Category Archives: Genetic medicine

Led by T. Rowe Funds and Viking Global Investors, the funding allowed Color to accrue a number of new partners, which now comprise Apple, Verily, Northshore University HealthSystem,the Teamsters Health and Welfare Fund of Philadelphia and Vicinity, and Sanford Health.

Color has also announced that it is now working alongside not-for-profit healthcare system Sanford Health to build on its Imagenetics genomics programme, which will, in turn, allow Sanford Health to embed genetic medicine directly into primary care, as well as to implement Colors digital tools to engage patients and streamline clinical reporting within its facilities.

Caroline Savello, Vice-President of Commercial for Color,commented: "In the last 18 months, we saw a huge acceleration with institutions around the world and across every type of player in the health ecosystem whether its hospitals or health systems, large-scale research programmes, payers, care delivery or employers who want to change the care delivery model for their population by understanding genetics across the population.

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Color raises further $75-million funding - ITIJ

As we move into the next decade, we asked the editorial board of Neurology Today to reflect back on 2019 to highlight those advanceshowever large, small, or transformationalthat moved neurology and the field forward in the clinic, at the bench, in the therapeutic pipeline, and in areas of policy and practice. Here below they offer their expert picks on the neurology news that mattered in 2019. Look for more in-depth discussion of these picks and reports in NeurologyToday.com.

JAMES C. GROTTA, MD, FAAN

Director of Stroke Research at the Clinical Institute for Research and Innovation

Memorial Hermann-Texas Medical Center

Houston, TX

The Pick: Johnston KC, Bruno A, Pauls Q, et al. Intensive vs standard treatment of hyperglycemia and functional outcome in patients with acute ischemic stroke. The SHINE randomized clinical trial. JAMA 2019;322(4):326-335.

The Findings: This trial randomized 1,151 acute ischemic stroke patients with blood glucose>110 mg/dL (or >150 mg/dL if not diabetic) at admission to receive either aggressive blood glucose-lowering using an insulin drip, which achieved a mean glucose level of 118 mg/dL or a conventional insulin sliding scale, which achieved a mean glucose level of 179 mg/dL. Intensive management compared with standard management did not improve functional outcome, and intensive treatment was associated with more symptomatic hypoglycemia.

Why It's Important: Many patients with acute stroke are hyperglycemic on admission and hyperglycemia has been associated with increased brain swelling and bleeding. But it is not known if aggressively lowering elevated blood glucose will result in a better outcome. This study conclusively shows that aggressive reduction of blood glucose in the acute setting is not beneficial.

The Pick: Connolly SJ, Crowther M, Eikelboom JW, et al, for the ANNEXA-4 Investigators. Full study report of andexanet alfa for bleeding associated with factor Xa Inhibitors. N Engl J Med 2019;380(14):1326-1335.

The Findings: Andexanet alfa is a recombinant inactive form of factor Xa developed for reversal of factor Xa inhibitors. A total of 352 patients with acute major bleeding due to a factor Xa inhibitor (64 percent had intracranial hemorrhage) were given a bolus of andexanet followed by a two-hour infusion. Andexanet resulted in 92 percent reduction of factor Xa levels, and excellent or good hemostasis was achieved in 82 percent.

Why It's Important: Factor Xa inhibitors are safer and at least as effective as warfarin, so they are commonly used, including for prevention of stroke in patients with atrial fibrillation. Major bleeding complications including intracranial hemorrhage may occur. Andexanet is the first specific factor Xa inhibitor reversal agent designed to stop such bleeding. The major drawback of andexanet is its cost. Andexanet will likely become more commonly used in selected patients with life-threatening factor Xa-associated acute major bleeding and will provide further support for the use of Xa inhibitors over warfarin.

The Picks: Pan Y, Elm JJ, Easton JD, et al. Outcomes associated with clopidogrel-aspirin use in minor stroke or transient ischemic attack: A pooled analysis of CHANCE and POINT trials. JAMA Neurol 2019; Epub 2019 Aug 19.

Wang Y, Chen W, Lin Y, et al. Ticagrelor plus aspirin versus clopidogrel plus aspirin for platelet reactivity in patients with minor stroke or transient ischemic attack. BMJ 2019;365:12211.

Classens DMF, Vos GJA, Bergmeijer TO, et al. A genotype-guided strategy for oral P2Y12 Inhibitors in primary PCI. N Engl J Med 2019;381:1621-1631.

The Findings: The Pan, et al study pooled data on 10,051 patients from two large studies (CHANCE and POINT), which both showed that in patients with high-risk transient ischemic attack (TIA) or minor stroke, dual antiplatelet therapy (DAT) with clopidogrel plus aspirin resulted in fewer recurrent ischemic events than monotherapy with either aspirin or clopidogrel alone. However, the two studies had differing duration of DAT, and this pooled analysis showed that the benefit occurred with the first 21 days of treatment. After that, the risks of bleeding exceeded the benefit.

In CHANCE, Wang, et al had also shown that many patients on DAT continue to have heightened platelet reactivity, in particular those carrying the CYP2C19 loss-of-function allele. Ticagrelor is pharmacologically similar to clopidogrel but its metabolism does not involve the CYP2C19 pathway. Now the same investigators show that substituting ticagrelor for clopidogrel resulted in much more complete suppression of platelet reactivity without increased bleeding risk compared to those just left on clopidogrel plus aspirin.

Supporting this concept, Classens, et al randomized stroke patients with percutaneous coronary intervention (PCI) to receive either ticagrelor or prasugrel versus clopidogrel. Patients in the clopidogrel group who had CYP2C19 loss-of-function alleles were switched to ticagrelor or prasugrel. The genotype-guided group was non-inferior with regard to recurrent ischemic events and had less bleeding.

Why It's Important: Patients with minor stroke and some TIA patients are at high risk of recurrent ischemic events, and based on the CHANCE and POINT studies should be treated with DAT. The Pan, et al pooled analysis conclusively shows that such DAT should be stopped and patients reverted to monotherapy after 21 days. However, even if on DAT, many patients continue to have high platelet reactivity because they harbor the loss-of-function CYP2C19 allele that prevents the conversion of clopidogrel to its active form. Because ticagrelor and prasugrel metabolism do not involve the CYP2C19 pathway, and they are under evaluation to replace clopidogrel, these studies suggest that high-risk patients continued on clopidogrel should be checked for CYP2C19 activity, and ticagrelor substituted if loss-of-function is identified.

ANN TILTON, MD, FAAN

Professor of Neurology and Pediatrics

Louisiana State University Health Sciences Center

New Orleans, LA

The Pick: Kim J, Hu C, Moufawad EA, et al. Patient-customized oligonucleotide therapy for a rare genetic disease. N Engl J Med 2019;381(17):1644-1652.

The Findings: In this N of 1 study, investigators designed, tested, and manufactured milasen, a splice-modulating antisense oligonucleotide (ASO) drug tailored to a particular patient with a rare genetic form of Batten disease. There were no serious adverse events, and treatment was associated with a reduction in seizures (evidenced by EEG and parental reporting). This ability and the development of the ASO drug nusinersen for the treatment of infants and children with spinal muscular atrophy opened up the ability to utilize similar technology in the child in this study who was deteriorating.

Why It's Important: This study provides a proof-of-concept demonstrating an N of 1 studya patient-specific treatmentthat has thus far been safe and has some efficacy. The authors rapidly utilized genomic medicine to further open the door for individualized treatment in the rare disease space.

Read the Neurology Today story, In the Pipeline-An Antisense Oligonucleotide Therapy Looks Promising for a Rare Form of Batten Disease (June 20, 2019).

ERIC M. MCDADE, DO

Associate Professor of Neurology

Washington University at St. Louis

School of Medicine

St. Louis, MO

The Pick: Preische O, Schultz SA, Apel A, et al, for the Dominantly Inherited Alzheimer Network. Serum neurofilament dynamics predicts neurodegeneration and clinical progression in presymptomatic Alzheimer's disease. Nat Med 2019;25(2):277-283.

The Findings: In this study, researchers studying a group of participants with autosomal dominant Alzheimer's disease (AD), a highly predictable form of the disease, measured serum and CSF neurofilament light chain (NfL)a neurospecific marker that increases with neuronal damage, across the disease spectrum to determine if NfL could provide unique information on disease stage and risk. In doing so, they found that NfL begins to increase between five to 10 years before cognitive decline begins and that the rate of change of serum NfL was a good predictor of cortical atrophy and decline on the Mini-Mental State Exam. These findings suggest that this test may be a marker of the neurodegenerative aspect of the disease in those at a high risk of developing AD.

Why It's Important: Although important advancements have been made in the development of diagnostic tests that are specific to AD and other associated dementias, the long time period from when amyloid-beta pathological changes begin to when cognitive decline starts introduces a large amount of uncertainty in predicting the likelihood of dementia on cognitively normal adults with abnormal AD biomarkers. Furthermore, the most accurate AD diagnostic biomarkers are either PET or cerebrospinal fluid (CSF)-based and therefore limit their use at this time.

As the ability to identify those at risk for AD improves it is important to determine reliable tests for determining those at the greatest risk of developing cognitive decline in the near future. Moreover, NfL has been shown to respond to disease-modifying therapies in multiple sclerosis, suggesting that it might also provide an important outcome measure of the neurodegenerative process in AD clinical trials.

Additionally, other studies have demonstrated that CSF and serum changes in NfL are highly correlated, indicating that a blood test is likely to be sufficient when using this as a diagnostic measure. Although there is plenty of work to be done, this study has been confirmed in non-familial forms of AD and NfL has become a measure of great focus in AD research and clinical trials.

The Pick: Largent EA, Terrasse M, Harkins K, et al. Attitudes toward physician-assisted death from individuals who learn they have an Alzheimer disease biomarker. JAMA Neurol 2019;76(7):864-866.

The Findings: In this small study of participants participating in the Anti-Amyloid Treatment in Asymptomatic Alzheimer's (A4) study, a secondary prevention trial testing whether solanezumab can slow cognitive decline in persons with amyloid accumulation, and a related study, participants who had abnormal or normal amyloid PET scans were followed over a 12-month period to assess how knowing whether they have an abnormal amyloid level affected their views on physician-assisted death (PAD). Twelve months after they received the results of their abnormal amyloid PET scans, approximately 20 percent reported that they would consider PAD if they began to develop dementia or consider themselves a burden to others. Importantly, these participants in the study nonetheless endorsed a greater likelihood of planning for the future.

Why It's Important: Given the increasing push for prevention studies in Alzheimer's disease and the development of increasingly accurate and accessible diagnostic tests for AD related biomarkers, it is imperative that we understand the potential benefits and hazards of cognitively-normal adults learning about whether they have abnormal AD pathologies that significantly increase their risk for developing dementia. We have truly entered into a stage in AD research where the neurobiological underpinnings of the disease can be identified prior to the development of clinical impairment. Although this offers the opportunity for greater chances of identifying disease-modifying therapies, until there are effective preventive therapies it is absolutely critical that we understand how this type of information affects our patients.

JACQUELINE A. FRENCH, MD, FAAN

Professor of Neurology

NYU School of Medicine

New York, NY

The Pick: Lagae L, Sullivan J, Knupp K, et al for the FAiRE DS Study Group. Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A randomised, double-blind, placebo-controlled trial. Lancet 2019; 394(10216):2243-2254.

The Findings: This is the first randomized, placebo-controlled trial of fenfluramine for Dravet syndrome. A total of 119 children with Dravet syndrome were randomized to high- or low-dose fenfluramine, compared with placebo, and treated for 14 weeks. Convulsive seizures were reduced substantially. The high-dose group (0.7 mg/kg) had 62.3 percent greater reduction in mean monthly convulsive seizure frequency compared with those taking placebo; the low-dose group (0.2 mg/kg per day) showed a 32.4 percent reduction compared with those taking placebo. Half the children in the high-dose group and almost a quarter in the low-dose group had a 75 percent or greater reduction in mean monthly convulsive seizures. The drug was tolerable for most. There were no dropouts in the low-dose group; six dropped out in the high-dose group compared with three in the placebo group.

Why It's Important: There has been a greater focus on treatment of orphan epilepsies over the last decade. Dravet syndrome has been the orphan poster child, with numerous trials underway for the condition. Pharmaceutical-grade cannabidiol (Epidiolex) was the first antiseizure medication approved for Dravet syndrome. Based on the trial above, the US FDA recently granted fenfluramine a priority review. Such reviews are given to drugs that are expected to have a substantial impact on a disease. Fenfluramine is currently undergoing trials in Lennox-Gastaut syndrome, another orphan epilepsy. Safety studies are also ongoing, to ensure that the valve thickening and pulmonary fibrosis seen with Fen-Phenwhich had fenfluramine as a componentdo not occur.

Read the Neurology Today article, In the Pipeline-Oral Fenfluramine Is Promising Therapy for Children with Dravet Syndrome (January 9, 2020).

The Pick: Kapur J, Elm J, Chamberlain JM, et al, for the NETT and PECARN Investigators. Randomized trial of three anticonvulsant medications for status epilepticus. N Engl J Med 2019;381(22):2103-2113.

The Findings: This randomized trial assessed levetiracetam, fosphenytoin, and valproate for the treatment of status epilepticus, which continued after benzodiazepines had failed. The trial was stopped for futility after 384 adults and children were randomized. The endpoint of cessation of clinically-apparent status and improving mental status, without the addition of another medication at 60 minutes, was achieved in 47 percent of patients assigned to levetiracetam, 45 percent assigned to fosphenytoin, and 46 percent assigned to valproate. Adverse effects were similar between the groups.

Why It's Important: Status epilepticus is a major cause of harm related to seizures and epilepsy. Levetiracetam has increasingly been used in place of the older antiseizure medications phenytoin and valproate due to the perception that it is safer and produces less drug interactions. To date, there has been no rigorous evidence to support its use. This study shows no substantial difference (either in safety or efficacy) when levetiracetam is used, compared with the older drugs. Unfortunately, in the absence of a difference, it is impossible to say if any of the drugs were effective, however there is a reasonable likelihood that the status epilepticus did not stop on its own, considering that median time to seizure cessation after infusion was less than 15 minutes for all three drugs. The study highlights a very significant treatment gap, with fully half of patients inadequately treated with any of the three studied antiseizure medications.

Read the Neurology Today article, For Your Patients-Three Anticonvulsants Are Equally Effective for Status Epilepticus (January 9, 2020).

The Pick: Dubey D, Britton J, McKeon A, et al. Randomized placebo-controlled trial of intravenous immunoglobulin in autoimmune LGI1/CASPR2 epilepsy. Ann Neurol 2019;Epub 2019 Nov 28.

The Findings: Fourteen patients with LGI1- and three with CASPR2-related epilepsy who had two seizures per week were randomized to placebo versus treatment with IVIG added to standard antiseizure medicine. At baseline more than half of the patients were having 10 or more seizures daily. Six of eight patients in the IVIG group were responders (with a 50 percent reduction in seizures from baseline to five weeks), compared with two of nine in the placebo group (p=0.044). Only two patients treated with IVIG were seizure-free by the end of the study. The authors concluded that IVIG combined with antiseizure medicine is more effective than antiseizure medicine alone.

Why It's Important: There has been a great deal of interest in autoimmune epilepsy. When patients present with cognitive disturbance and a high seizure burden, the diagnosis is made more readily, but there may be additional patients who present as more typical focal epilepsy. This study underscores that the diagnosis is important and has treatment implications. While this study provides evidence that IVIG is superior to antiseizure medicines, the role of other standard immunotherapies such as corticosteroids and plasma exchange, either alone or in combination with IVIG, remains to be determined.

SHAWNIQUA WILLIAMS ROBERSON, MD

Assistant Professor of Neurology

Vanderbilt University Medical Center

Nashville, TN

The Pick: Kini LG, Bernabei JM, Mikhail F, et al. Virtual resection predicts surgical outcome for drug-resistant epilepsy. Brain 2019;142(12):3892-3905.

The Findings: This study combined automated processing of neuroimaging and intracranial EEG (iEEG) recordings in 28 patients with drug-resistant epilepsy to determine which specific brain regions, if resected, were most likely to result in seizure freedom. The authors found that decreases in broadband synchronizability of the resection zone at seizure-onset predicted surgical outcome (AUC 0.89, 95% CI 0.76-1.00) and that this information correctly predicts outcomes even when visual inspection of ictal iEEG could not clearly identify the seizure-onset zone. Preictal perilesional synchronizability was higher in nonlesional patients with malformations of cortical development than in those with lesions evident on MRI (rank sum statistic -2.08, p=0.04).

Why It's Important: Selection of surgical resection candidates and precise identification of the optimal extent of resection is the holy grail in the management of drug-resistant focal epilepsy. This study presents an important step forward, validating the previously published virtual resection method in a cohort of patients with and without identifiable MRI lesions and elucidating relationships between network synchronizability and certain clinical characteristics. Additionally, the authors provide a robust pipeline including rigorous clinical marking and validation of electrocorticographic recordings, MRI-based resection zone quantification, and online data-sharing. This open invitation to collaborate sets the stage for further advances to hone our prediction models and improve surgical resection planning for patients with intractable epilepsy.

The Pick: Ghassemi MM, Amorim E, Alhanai T, et al, for the Critical Care Electroencephalogram Monitoring Research Consortium. Quantitative electroencephalogram trends predict recovery in hypoxic-ischemic encephalopathy. Crit Care Med 2019;47(10):1416-1423.

The Findings: The authors compared several prediction models for prognostication of neurologic outcome (Cerebral Performance Category) at six months after cardiac arrest in a series of 438 patients across four institutions. They found that a model using time-varying quantitative EEG features collected over 72 hours outperformed a time-invariant model (p< 0.05) and other models, including a clinical prediction model and a random forest model.

Why It's Important: Accurate prognostication of outcomes after cardiac arrest remains an important and unsolved challenge for neurologists. This study introduces a novel methodologic approach to optimizing prognostication by capitalizing on the time-varying nature of quantitative EEG characteristics to optimize the weighting of each feature and timepoint in the model. This approach outperforms current state-of-the-art models, which use only static features, demonstrating that the statistical association between quantitative EEG features and neurologic outcome changes over time. This study paves the way for development of a risk score that further improves prognostication by incorporating both clinical and EEG features in a time-sensitive manner.

The Pick: Fultz NE, Bonmassar G, Setsompop K, et al. Coupled electrophysiological, hemodynamic, and cerebrospinal fluid oscillations in human sleep. Science 2019;366(6465):628-631.

The Findings: This study investigated EEG, BOLD hemodynamics and CSF oscillations in the fourth ventricle during sleep in a series of 13 participants. They found a large amplitude, pulsatile flow of CSF at 0.05 Hz during non-REM sleep (5.52dB increase, 95%CI 2.33-7.67dB) and observed a strong anticorrelation between this signal and gray matter BOLD oscillations (r= -0.48 at lag 2s, p<0.001). They also found that the CSF pulsations were entrained to fluctuations in amplitude of the slow-delta EEG waves of non-REM sleep (peak amplitude=21%, p<0.001, shuffling).

Why It's Important: The mechanisms by which sleep can be restorative are poorly understood. CSF flow is thought to play a role by facilitating clearance of waste products during sleep. This study demonstrates that CSF flow is entrained by slow waves during non-REM sleep and suggests that the electrophysiological signatures of sleep may drive its physiologically-restorative effects. The study opens the way to further assessment of whether impaired CSF flow dynamics linked to slow-wave sleep lead to neurodegeneration, and whether strategies to preserve slow-wave sleep can rescue brain function.

Read the Neurology Today article, Disease Mechanisms-Slow Waves of CSF During Sleep Clear Toxins Linked to Neurodegenerative Conditions (December 5, 2019).

MICHAEL A. RUBIN, MD, MA, FAAN

Associate Professor of Neurology and Neurotherapeutics

UT Southwestern Medical Center

Dallas, TX

The Pick: Russell JA, Epstein LG, Greer DM, et al. Brain death, the determination of brain death, and member guidance for brain death accommodation requests: AAN position statement. Neurology 2019; Epub 2019 Jan 2.

The Findings: Through this position statement, the AAN endorses the Uniform Determination of Death Act that brain death occurs when, among other factors, the irreversible loss of all functions of the entire brain, including the brainstem, has been demonstrated by complete loss of consciousness (coma), brainstem reflexes, and the independent capacity for ventilatory drive (apnea), in the absence of any factors that imply possible reversibility. The statement helps provide guidance to AAN members who encounter resistance to brain death, its determination, or requests for accommodation, including continued use of organ support technology despite neurologic determination of death.

Why It's Important: The frequency of controversial cases in determination of death by neurologic criteria has accelerated in the last few years. This paper is a first step in not only reiterating established criteria, but also offering Academy members advice in how to navigate the complex landscape that is developing nationally.

Read the Neurology Today story, Policy and Practice-Dead in California, Alive in New Jersey. Neurologists Seek Nationwide Consistency in Policies for Determining Brain Death (January 9, 2020).

The Pick: Vrselija Z, Daniele SG, Silbereis J, et al. Restoration of brain circulation and cellular functions hours post-mortem. Nature 2019; 568:336-343.

The Findings: The study described the restoration and maintenance of microcirculation and molecular and cellular functions of the intact pig brain under ex vivo normothermic conditions up to four hours post-mortem.

Why It's Important: This groundbreaking paper shows that interruption in blood flow and delivery of oxygen to an animal model brain for several hours may not lead to complete loss of cellular function of brain tissue, but likely still leads to loss of tissue and organ function. These data suggest that efforts for brain resuscitation ought to be continued in the acute setting of an injury before a definitive prognosis is determined.

Read the Neurology Today story, At the Bench-What the Post-Mortem Pig Brain Study Really Says About Brain Death (June 6, 2019).

JENNIFER BICKEL, MD, FAAN

Professor of Pediatrics

Children's Mercy Hospital

University of Missouri-Kansas City

Kansas City, MO

The Picks: Seng EK, Singer AB, Metts C, et al. Does mindfulness-based cognitive therapy for migraine reduce migraine-related disability in people with episodic and chronic migraine? A phase 2b pilot randomized clinical trial. Headache 2019; 59(9):1448-1467.

Dodick DW, Lipton RB, Ailani J, et al. Ubrogepant for the treatment of migraine. N Engl J Med 2019;381(23)2230-2241.

Lipton RB, Croop R, Stock EG, et al. Rimegepant, an oral calcitonin gene-related peptide receptor antagonist for migraine. N Engl J Med 2019;381(2):142-149.

Goadsby PJ, Wietecha LA, Dennehy EB, et al. Phase 3 randomized, placebo-controlled, double-blind study of lasmiditan for acute treatment of migraine. Brain 2019;142(7):1894-1904.

The Findings: In the Headache trial, 60 patients who had six to 30 headache days per month were randomized to either eight weekly individual mindfulness-based interventionsmindfulness mediation and cognitive-behavioral skillsor eight weeks of waitlist/treatment as usual. The mindfulness-based cognitive therapy effectively reduced headache-related disability and attack-level migraine related disability.

In the New England Journal of Medicine study on rimegepant, 1,672 participants were randomized to placebo and/or 50 mg of ubrogepant and 100 mg of ubrogepant. A higher percentage of participants who received ubrogepant had freedom from pain and absence of the most bothersome symptomnausea, somnolence, and dry mouthat two hours after the dose.

The New England Journal of Medicine study of lasmiditan randomized 1,186 patients to rimegepant or placebo; the percentage of patients who were free from their most bothersome symptom was 37.6 percent for the rimegepant group compared with 25.2 percent in the placebo group (p<0.001).

The Brain study reported that in a prospective, double-blind, phase 3 multicenter study, lasmiditan, a serotonin 5-HT1F receptor agonist, was effective for acute treatment of patients with migraine. A total of 3,005 patients with migraine were randomized to oral lasmiditan 200 mg, 100 mg, 50 mg, or placebo. Lasmiditan was associated with significantly more pain freedom at two hours200 mg (p<0.001); 100 mg (p<0.001); 50 mg (p=0.003) versus placebo.

Why It's Important: 2019 was another great year for advances in headache management. We have seen FDA approval for novel pharmaceutical options, including ubrogepant and lasmiditan, as well as for additional neurostimulator options. In addition, research continues to indicate that non-pharmaceutical treatments such as mindfulness-based cognitive therapy can significantly reduce migraine related disability. As a Headache Section Chief, I have overseen the care of tens of thousands of patients with refractory, disabling headaches. Never before have we headache specialists had so many options to offer our patients. It's truly exciting to see how far the field has come since I entered practice almost 15 years ago.

Read the Neurology Today article, In the Pipeline-Rimegepant Is Effective for Acute Migraine Pain at 2 Hours, Study Finds (August 8, 2019).

The Pick:The National Academy of Medicine Action Collaborative on Clinician Well-Being and Resilience

The Finding: The NAM Collaborative on Clinician Well-Being and Resilience has brought together a network of 60 organizations to raise the visibility of clinician anxiety, burnout, depression, stress and suicide; improve baseline understanding of challenges to clinician well-being; and advance evidence-based, multidisciplinary solutions to improve patient care by caring for the caregiver. Neil A. Busis, MD, FAAN, a member of the Neurology Today editorial board, represents neurology in this ambitious initiative. The collaborative has sponsored initiatives around wellness, including several that have been featured in Neurology Today this year.

Why It's Important: New FDA approvals like those featured above for migraine are not enough to help our patients and our field. We need major changes in our field to return to the core values of humanism and professionalism in medicine. The National Academy of Medicine Action Collaborative on Clinician Well-being is playing a major role in supporting that goal.

Read the Neurology Today article, Wellness: A National Initiative to Build a Hub for Wellness Resources (March 7, 2019).

MELISSA J. NIRENBERG, MD, PHD, FAAN

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The News That Mattered: Neurology Today Editorial Board Top... : Neurology Today - LWW Journals

Diagnosed with a genetic disease that slowly eats away vital organs, and brushed aside by health bureaucrats, a family in Nizhny Novgorod have fought to obtain a crucial but expensive drug a battle they are now winning.

As millions of children across Russia prepared to open their Christmas presents, 12-year-old Ivan Lobanov, a resident of a small hamlet near Nizhny Novgorod, turned the camera on and began to speak, his voice calm and lips stiff.

I have a serious disease, the Fabry disease. I inherited it, the pale, intelligent-looking boy is heard to say in the video. My mother is sick, my cousins are sick, [as are] my uncle and grandmother, the boy said, bending his fingers.

I know that the medicine is expensive and we will never buy it on our own. But everyone has the right to life. Without medicine, we will die, he added in despair.

Intended for Vladimir Putin and shared on social media, Ivans cry for help has become a turning point for him and his family, who spent three years fighting for a life-saving medication refused to them by their clinic. But for some of the family, it came all too late.

Like many people who test positive for deadly diseases, the seven blood relatives whom Ivan had asked to help learned of their diagnosis by accident.

A blood test and subsequent DNA sample taken from one of the seven back in 2016 showed initial symptoms of Fabry. Later that year, the deadly diagnosis was confirmed in all of them by leading Moscow and St. Petersburg hospitals, Natalia Fedina, Ivans 32-year-old mother, told RT Russian.

Once back at home, the woman had the diagnosis confirmed by the nearest clinic. She and her loved ones had every reason to sound the alarm.

Discovered in 1898 by a German dermatologist, Fabry slowly consumes the kidneys, heart, blood system and skin, often causing unbearable body pain. It was almost a century before the first specific treatment for Fabry disease was invented and approved but decades of clinical research didnt make the drugs any more affordable.

READ MORE: Unique surgery: Russian hospital performs first successful lungs and liver transplant

The annual cost of fabrazyme and replagal two Western-made medicines developed to stop the disease from progressing is around US$100,000 per patient. And this is where the life of Ivan and his immediate family hung in the balance.

Natalia recalls how she asked local authorities to cover expenses for the costly medicine under a healthcare scheme technically available to every Russian free of charge.

All of a sudden, the appeal was rejected by the local health ministry officials, who claimed the diagnosis was wrong because... the clinic didnt have a geneticist among their staff.

But Natalia believes the authorities simply denied the treatment for seven relatives because the total costs would be overwhelming, given that the drug needs to be injected twice a month and is prescribed for life.

The clinics management and their superiors tried to prove the patients were healthy. They would say: Theres no such disease, what have you come up with? Natalia shared.

Fabry starts taking a heavy toll in early childhood, and this is what Ivan must cope with every day. Vanya, he has his kidney damaged, his arms and legs suffer from severe pain, his mother says.

You know, he comes back from school and says: I cant take it anymore, Ill be in the wheelchair soon or die.

Once symptoms recede, the 12-year-old may live a fairly normal life, playing computer games and dreaming of seeing the world.

I want to travel abroad and go to the sea, maybe Egypt or Tunisia, Ivan wistfully told the RT crew and smiled, but then broke off and got serious: My arms and legs ache in the heat. You dont sit still when travelling abroad, you walk or go sightseeing but I cant do so, it doesnt work that way.

As health officials played bureaucratic ping-pong, Natalia, Ivan and the relatives managed to receive the medication through a charitable organization for half a year. But since the treatment must not be interrupted, their symptoms deteriorated.

Eventually, the mother had to quit her job, and her uncle sadly died. 51 isnt the right age to die, he wasnt going to die, Natalia said, standing near his grave. He went to the treatment on his own and came back in a casket.

But after his death and, probably, Ivans footage something began to change. Natalia was contacted by local health authorities who assured her that the medicine is on its way to the local clinic and the treatment is due to start soon. She was also promised that an inquiry will be launched into their case.

After his death, things started to move. The health ministry and hospitals, and everyone drew attention to us, the woman says of her uncle. He sacrificed his life to save us all.

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Without it we will die: Denied expensive medication for 3yrs, Russian family fights (and wins) against rare genetic disease - RT

Fulbright Postgraduate Scholarships

Five University of Sydney alumni and current students have been awarded Fulbright Postgraduate Scholarships to conduct research or undertake a postgraduate program at an institution in the United States.

Nicholas Hindley (Lecturer in Statistics and Data Science at the University of Sydney and PhD candidate at ACRF Image X Institute) hopes to initiate a research program with a global and multi-disciplinary approach to study the safe and effective implementation of machine learning in a clinical setting.

Alice Yan (environmental lawyer, graduate of Bachelor of Commerce and Law) will explore the world-leading environmental policies pioneered in the United States. She will specialise in the ground-breaking science that has driven these policies. Alice hopes to apply this learning to help shape the future of Australian environmental policy.

Ruebena Dawes (graduate of Bachelor of Science - Advanced Mathematics (Honours) and PhD candidate) will study in the laboratory of one of the worlds foremost experts in genomic informatics at Yale School of Medicine, to find genetic answers for an undiagnosed cohort of 82 families with rare disorders. Obtaining a precise genetic diagnosis is of utmost importance for families with genetic conditions, guiding clinical care and enabling precision and preventative medicine.

Gemma Tierney (graduate of Bachelor of Applied Science - Physiotherapy) is an Indigenous physiotherapist of Kamilaroi descent. She will undertake a master of public health, specialising in maternal and paediatric health. She will pursue a career that provides more equitable healthcare to Indigenous women and children.

Ultimately, I aspire to work for National Aboriginal Community Controlled Health Organisations (NACCHO) in which Indigenous communities work with non-government organisations to deliver appropriate and high-quality healthcare to often remote and rural Indigenous maternal and paediatric communities, Gemma said.

Dr Sarmad Akkach (graduate of Master of Medicine - Ophthalmic Science) is a surgical trainee and researcher with expertise in Aboriginal and Torres Strait Islander eye health and rural eye care delivery. He will undertake a master of public health, where he will conduct research into novel methods of eye care delivery in rural and low-resource settings.

Guy Coleman (Weed Control Scientist at the University of Sydney) is passionate about the use of machine learning and robotics in weed management. His research will focus on developing efficient machine learning data pipelines and testing how growth stage of wheat, cotton and relevant weeds influences detection accuracy.

It is very exciting to think I will be conducting research on Australian crops and weeds at a US institution as part of the Fulbright Future Scholarship. Improving agriculture in Australia and around the world through collaborative research is incredibly important if we are to feed the growing world population sustainably, Guy said.

My specific research focuses on annual ryegrass (Lolium rigidum) in wheat, although I also incorporate other grass weeds, such as wild oats (Avena fatua), and broadleaf species, including wild radish (Raphanus raphanistrum), for comparison. In the US I will also look at palmer amaranth in cotton, which is a significant problem species for American cotton farmers.

Since the scholarships were established in 1949, 5,000 scholarships have been awarded in Australia, including 274 students, researchers and alumni from the University of Sydney. The scholars will be officially announced at a gala dinner in Canberra at Parliament House on 27 February 2020.

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Fulbright Scholarship success - News - The University of Sydney

The Medal for Scientific Distinguishment aims at encouraging scientific competencies in the UAE. Photo for illustrative purpose only. Image Credit: COURTESY EIAST

Dubai: The Mohammed bin Rashid Academy of Scientists (MBRAS) has announced the list of finalists for the third round of the Mohammed bin Rashid Medal for Scientific Distinguishment. The five finalists include scientists and scholars who have made a significant scientific contribution.

Celebrating and encouraging scientific competencies in the UAE, the medal allows scientists to showcase their capabilities by leveraging the wide array of opportunities offered by cutting-edge technologies. This will enable them to develop vital sectors and support advanced sciences in order to come up with innovative solutions to current and future challenges and harness such solutions to serve humanity and build a better world for future generations.

The winners of the third round of the Mohammed bin Rashid Medal for Scientific Distinguishment will be announced in February 2020, and will be granted the UAE Gold Visa along with their family members.

Ultimate goal

Sarah bint Yousif Al Amiri, UAE Minister of State for Advanced Sciences, said the UAE Government seeks to provide a nurturing environment for scholars of great scientific acheivements as reflected in the vision of His Highness Sheikh Mohammed bin Rashid Al Maktoum, UAE Vice President, Prime Minister and Ruler of Dubai. She noted that the ultimate goal is to engage talents and competencies to further develop sciences and scientific research, which will also achieve the objectives of the UAE Vision 2021, the National Advanced Sciences Agenda 2031 and the UAE Centennial Plan 2071.

- Sarah bint Yousif Al Amiri, UAE Minister of State for Advanced Sciences

The Mohammed bin Rashid Medal for Scientific Distinguishment reflects the keenness of the UAE Government to create a supporting environment for advanced sciences in the UAE, and to leverage innovative ideas and capabilities in its attempt to build the future and support the countrys evolution towards a sustainable and knowledge-based economy. This can be attained by extending support to the scientific and research movement and nurturing a generation of scientists and researchers who can utilize the latest innovations in science and technology to serve society and enhance the UAEs status as a global lab for future technologies, she said.

Granting the golden visa to winners of the Mohammed bin Rashid Medal for Scientific Distinguishment paves the way towards creating a stimulating environment conducive to advancement in various scientific research and knowledge fields. The move also underpins the UAEs approach to support development efforts, attract accomplished talents, competencies and researchers and encourage them to contribute to the UAEs overall economic growth and promote its leading position as a hub for scientists, innovators and researchers, she added.

Rigorous process

The Mohammed bin Rashid Medal for Scientific Distinguishment finalists were chosen from a long list of nominees from Khalifa University, UAE University, New York Abu Dhabi University, University of Sharjah, American University of Sharjah, Gulf Medical University in Ajman and Dubai Police. The finalists were evaluated by a specialised committee that included a group of top scientists and experts from different scientific fields from the National Academies of Sciences, Engineering, and Medicine in the United States.

A panel from the Emirates Scientists Council also interviewed each of the nominees. The panel included: Sarah bint Yousif Al Amiri, UAE Minister of State for Advanced Sciences and Chairperson of the Emirates Scientists Council; Dr Arif Sultan Al Hammadi, Director and the Executive Vice President of Khalifa University of Science Technology; and Professor Dr Ghaleb Ali Al Hadrami Al Breiki, Acting Vice Chancellor for Academic Affairs & Provost of UAE University.

Strict criteria

Nomination for the Mohammed bin Rashid Medal for Scientific Distinguishment is based on a set of strict criteria. Eligible candidates must be renowned scientists whose research has had a positive impact on the UAE and is aligned with the countrys vision. They must be active members in the UAE scientific community and have showcased a recognizable commitment to the development of young scientists and researchers through knowledge transfer. They must also be experts and a reference in their scientific field, both locally and internationally.

The Mohammed bin Rashid Medal for Scientific Distinguishment covers advanced research in several scientific disciplines, like Aerospace Engineering, Agricultural Biotechnology, Biology, Chemical Engineering, Civil Engineering, Clinical Medicine, Computer and Information Sciences, Earth and Environmental Sciences, Electrical Engineering, Food Sciences, Health Sciences, Material Engineering, Mechanical Engineering, Nanotechnology, Petroleum Engineering, and Physics.

Khalifa University accounted for 35 per cent of the finalists, UAE University 26 per cent and New York Abu Dhabi University 22 per cent.

Evaluation stages

The evaluation process for the Mohammed bin Rashid Medal for Scientific Distinguishment consisted of three stages. In the first stage, registration for the submission of applications from nominees was opened, allowing UAE-based scientists to participate, as well as receiving nominations from universities and research institutions. Nominees were evaluated based on the Medals initial criteria, notably specialisation, years of experience, application of scientific output and global impact of research.

In the second stage, nominees were evaluated by an international panel consisting of leading experts by looking at the nominees global impact on their respective fields.

The third stage consisted of final interviews conducted by the Emirates Scientists Council to assess the role of the nominated scientists/researchers and their contributions to scientific research in the UAE, as well as the extent to which their contributions are aligned with the National Advanced Sciences Agenda.

The finalists

Ehab El-Saadany

Director of Advanced Power and Energy Research Centre and a professor in the Electrical Engineering and Computer Science Department at Khalifa University of Science and Technology and Adjunct Professor at the ECE Department, University of Waterloo, Canada, he is the author of more than 420 top tier international journals and conferences publications with three US patents.

Professor El-Saadany helped 26 PhD and 20 Masters students graduate and supervised over 20 Postdoctoral fellows and visiting professors. He raised over $13 million in research funds from different federal, provincial and industrial entities internationally and nationally.

Rashid K. Abu Al-Rub

He is the Chair of Aerospace Engineering Department and the Director of Digital and Additive Manufacturing Centre at Khalifa University of Science and Technology. His primary research field is the development of macro-mechanics-based constitutive models and computational tools, as well as digital design, additive manufacturing and 3D printing.

He has published one book and over 300 publications in archival journals, book chapters and conference proceedings. He is responsible for a budget of more than $30 million and was selected in 2007 among nine leading scientists in the US by National Science Foundation and Department of Energy. He is one of the members of the US National Science Foundation - International Institute for Multifunctional Materials for Energy Conversion.

Lourdes Vega

He is the Director of the Research and Innovation Centre on CO2 and Hydrogen (RICH Centre) at Khalifa University and a Professor in Chemical Engineering with academic positions in the USA (University of Southern California, Cornell University); Spain (University of Sevilla, Universitat Rovira I Virgili, National Research Council of Spain); and the UAE.

Her work has been directed towards the combination of fundamental and applied research focused on sustainable processes and products. These include recent works on new refrigerants, water treatment, removal of contaminants and CO2 capture and utilisation. She is the author of more than 200 scientific papers and five patents, and she has raised more than $50 million as principal researcher grants. She serves as an editorial board member in five scientific journals and five international conference committees.

Bassam Ali

He is the Leader of the Molecular and Genomics Laboratory and Professor of Molecular and Genetic Medicine at UAE University. His research is focused on the identification of disease genes and mutations responsible for rare recessive disorders in Arab populations, and suggesting diagnostic and treatment means. He is the author of more than 80 articles in international prestigious journals and conferences.

He is on the editorial board of several international scientific journals and an expert reviewer in several biomedical journals. He also supervises 11 PhD and seven Masters students.

Mohammed ElMoursi

A Professor in the Electrical Engineering and Computer Science Department (EECS) at Khalifa University of Science and Technology, he specialises in renewable energy integration and smart grid development. He also leads Renewable Energy Integration at the Advanced Power and Energy Centre (APEC) research theme. He has two US patents and is the author of more than 140 papers published in international journals and conferences.

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Gold visa for Scientific Medal winners in the UAE - Gulf News

The Medium recently had the chance to sit down with Dr. EstebanParra, a molecular anthropologist and anthropology professor at the Universityof Toronto Mississauga (UTM).

Parra has hada long and far-reaching journey in science which began in one of the oldestuniversities in Spain, the University of Santiago de Compostela. He began hisstudies in biology and like many students everywhere [he] discovered what [hewas] really passionate about while completing his undergraduate degree.

For Parra, thediscovered passion was anthropology and genetics. After completing his Ph.D.degree, he completed a postdoctoral fellowship at a molecular anthropology labin Spain. He was also a post-doctoral fellow in Rome, Italy, and Pittsburgh,USA, before joining UTM in 2002. Parra advises those interested in graduatestudies to be willing to follow the opportunities that arise. For him, it hasbeen incredibly exciting to see how the UTM campus has changed and grown inthe past seventeen years. We have been attracting incredible new faculty, notonly to anthropology but to many other programs, which has been nice to see,he says.

Parra hascontinued his research at UTM. One of the focuses of his research is toidentify some of the genetic risk markers of traits and diseases such asobesity, type 2 diabetes, cardiovascular diseases, and cancer. This is doneusing a genome wide association study to identify variants that are associatedwith these traits. Parra uses a consortiaa large group of samplesto haveaccess to as much data as possible. The more samples there are, the higherchance there is of finding a common link between the genetics of an individualand the ailments they suffer from.

Parra doesmention that genetics are often not the only cause. For diseases such as cysticfibrosis, ones genes are the primary factor in causing the condition. Thesediseases are termed Mendelian disorders. However, for complex conditions likeobesity and diabetes, ones environment and lifestyle play a huge role.Modifications in your lifestyle, your diet, and physical activity, are thebest way to combat conditions such as obesity and diabetes, said Parra.

An excitingdevelopment Parra is looking forward to is the advancement of precisionmedicine. Precision medicineor personalized medicine as it is sometimesreferred tois when an individuals genetic profile can be used to develop atailor-made treatment program for the individual. Precision medicine is a newfield because it has only recently been made possible by technologicaladvancements, which have also lowered the cost of genetic studies dramatically,and, in turn, opened many doors in the field of genetics.

Parraemphasizes the importance of collecting as much data as possible. The best wayto approach this is to collaborate with other scientists [] there are somestudies that are done with many participating research groups, and they havebeen able to use samples of up to a million individuals.

One of theadvantages of collecting a large number of samples is balanced representationof diverse ethnic groups, which for Parra is very important. He explains thatgenetic studies in the past have primarily been conducted in European countrieswhich is problematic for the future of precision medicine. When you primarilywork in just one population group, it may not be as helpful for the rest of theworld, he says.

In fact, foralmost all non-European groups, underrepresentation is a significant issuewhich is only improving slowly. Underrepresentation can be attributed to avariety of factors such as biasness and the location of the research groups whogenerally choose to perform their research in their own areas. Parra encouragesthose conducting research to overcome these factors since it is absolutelycritical to do more studies and represent these groups.

Parra hascontributed in his own right to the growth of the sample pool. One of thestudies he participated in was part of a large collaboration with researchersfrom around the world. Together, the researchers collected samples from overeighteen thousand individuals of various ethnicities. Since very few studieshad been previously conducted on non-European populations, they focused onlooking for genetic markers of obesity in children. Ultimately, they discovereda new locusa fixed position on a chromosome where a genetic marker is located.The locus they had discovered had not been found in significant numbers inpurely European groups, but appeared consistently in the diverse sample pool,exemplifying the need for more diverse sources.

Despite theshortcomings, Parra is hopeful about the future of the field and its growth. Heencourages greater awareness of the disparity of samples and urges efforts torectify the misrepresentation. He is immensely passionate about anthropologyand genetics and finishes off by stating, DNA is an open bookyou just need toknow how to read it.

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Genetic risk markers and misrepresentation - The Medium

December 12, 2019 -Payers are using coordinated care and precision medicine to make diagnoses more quickly and ensure a strong treatment plan for severe and chronic disease management.

Early detection of chronic and severe diseases can mean the difference between life and death. It can also mean the difference between affordable therapies and crippling medical bills.

A March 2018 study found that early cancer diagnosis could result in significant cost savings nationally. Researchers looked at 17 types of cancer and estimated that early detection could save, conservatively, $26 billion nationally.

Recognizing what is at stake, payers take different approaches to catching severe or chronic illnesses in their formative stages.

Coordinated care is a simple, well-tested method for both chronic disease prevention and chronic disease management.

READ MORE: Chronic Disease Coordinated Care May Not Impact Pediatric Spending

Humana recently announced that it would pursue a traditional approach to ensure that patients in danger of chronic kidney and end of life renal disease find out early and get the support they need.

Humana will task skilled provider teams with catching these diseases earlier and implementing personalized treatments.

This coordinated care strategy builds a team of nephrologists, nurses, dietitians, and social workers from one of Humanas two partnerseither Monogram Health or Somatus, depending on geographic location.

The providers will work with the patients primary care physician to determine the best treatments and provide home healthcare options, patient education, and mental healthcare support through counseling.

This multidisciplinary approach will focus on detecting kidney disease earlier, slowing disease progression, and utilizing therapies that enable members to receive care in the convenience of their own home, said William Shrank, MD, MPHS, Humanas chief medical and corporate affairs officer.

READ MORE: Cigna and MSK Start Value-Based, Coordinated Cancer Care Program

Through this collaboration, we will strengthen care coordination for Humana members with kidney disease. Our partnerships will offer customized care options, and will empower patients with education and engagement tools to better manage their condition.

In February, Humana took a similar approach with its oncology program, enhancing its coordinated care strategy and using analytics to ensure quality care.

With new advancements every day in genetic therapies, precision medicine is another method payers use to ensure that patients receive a quick diagnosis and the best treatment plan.

CVS Health launched an oncology care program called Transform Oncology Care, which uses precision medicine to identify and treat cancer patients. The program is rolling out to Aetna members in 12 states but is also available for use by other payers.

Due to CVS Healths geographic and data footprint, it can assess the likelihood that a patient will get cancer. With that information, the patients provider can intervene early on to pursue preventive care, screenings, or therapies.

READ MORE: Precision Medicine Challenges Persist, Aetna Leads Response

When it comes to identifying the appropriate therapies, the program allows providers to use genetics to identify the best course of treatment for a patient recently diagnosed with cancer.

Timing in cancer care is everything and when a patient does not get started on the right treatment it can result in progression and higher costs, said Alan Lotvin, MD, executive vice president and chief transformation officer at CVS Health.

We are the first company working to make the latest in precision medicine accessible to more patients and further empower informed treatment decision-making based on a patient's genetic profile to give them the best chance for successful treatment and improved quality-of-life.

Working in coordination with its third-party vendor, Tempus, CVS Healths new program will enable patients to undergo a broad-panel gene sequencing test once diagnosed to determine the best treatment. This is ideal not only for patients in early stages of cancer, but especially for patients in more advanced stages who need to start treatment as soon as possible.

Because genomic sequencing has certain eligibility requirements, providers are not always aware that gene sequencing is an option open to their patient.

In order to ensure that oncologists prescribe gene sequencing to eligible patients, CVS Health introduced a web-based provider portal into its e-prescribing software which allows oncologists to see the patients eligibility for the broad-panel gene sequencing tests among other functions.

For those who qualify, the program identifies the best treatment options based on genetic makeup. It also alerts providers to potential clinical trials that patients can enroll in and makes the enrollment process easier and faster.

The program integrates National Comprehensive Cancer Network guidelines which are constantly updated for the most recent suggested prescribing and treatment options.

Critically, this service can be employed at the point of detection, so treatments can be identified immediately, and a therapeutic strategy quickly determined.

CVS Health combines this digital solution with a nurse-led coordinated care team to continue quality of care after the diagnosis.

This service is available for only fully insured commercial members.

Among its other chronic disease management developments, earlier this year, CVS Health used preventive care to improve diabetes treatment.

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Care Coordination and Precision Medicine Improve Early Diagnoses - HealthPayerIntelligence.com

ByGreg Rienzi

STOCKHOLMDuring his distinguished career, Gregg Semenza has given hundreds of lectures. In fact, for general scientific audiences, the Johns Hopkins University School of Medicine professor often gives a longer version of the very talk he presented on Sundaydetailing his discovery of the HIF-1 protein's role in human cell oxygen level regulationduring his Nobel Prize lecture at the Karolinska Institutet's Aula Medica auditorium.

But he's never presented to such a large crowd, let alone for such a crowning career achievement.

At the end of his Nobel Prize lecture, where in 30 minutes he effortlessly synthesized three decades of research on how the human body adapts to changes in oxygen availability, Semenza took ample time to thank the many people responsible for bringing him to this moment.

He dedicated his lecture to his high school biology teacher, Rose Nelson, pictured prominently in a slide of the many scientists whom he learned from.

Video credit: Len Turner and Dave Schmelick

"Dr. Nelson was my inspiration in science. I'm here because of her," Semenza told the crowd. He also thanked his early mentors at Johns Hopkins, chiefly professors of genetic medicine Haig Kazazian and Stylianos Antonarakis, both in the audience, and the late Victor McKusick, hailed as the "father of medical genetics." Indeed, the list of acknowledgments was long and detailed, naming nearly 150 faculty colleagues as well as students and postdocs who have collaborated with him over the years.

But before he was done, Semenza flashed a slide of his familyof him with his wife and three childrentaken on the beach during a vacation to Maine this past summer. "And last but not least, I'd like to thank " he began before pausing, tears welling in his eyes, voice cracking. He bowed his head briefly. In an instant, the emotion of the moment overtook him. Sensing the heartfelt struggle, the packed house of more than 800 attendees came to his aid with a roar of applause.

"Thank you," Semenza said, before pausing to take in a deep breath. "OK. I've got it together. I'd like to thank my wife, Laura; my sons, Evan and Gabe; my daughter, Allie, for always being there for me. Giving me unconditional love and support."

The moment was out of character for the usually reserved physician-scientist, but it gave a hint of the many emotions bubbling just beneath the surface during perhaps the most momentous week of his life.

"At that moment, I was feeling the power of my feelings for those people, particularly for my family, and it just became really kind of overwhelming," Semenza said the next morning. "That's never happened to me before. ... It caught me by surprise."

Video credit: Nobel Prize

On many occasions, Semenza has said sharing this Nobel Prize experience with family and friends is the pinnacle of the trip. A group of 30 family members and close friends have traveled to Stockholm to celebrate the week with him, including his four siblings, his mother, and her twin sister.

Beth Murphy, Semenza's sister, said it was both touching and surprising to see her older brother break down on stage, if only for a moment.

"It's not like him, for him to tear up like that," she said. "But obviously he went someplace deep inside of him."

She added that it's already been an emotional few days for their family as they share this unique experience with him, touring Stockholm and taking part in Nobel Week activities.

"I really, really love seeing how happy Gregg is," she said. "This is his life's work. To see him smiling from ear to ear the whole time is just fabulous."

Image credit: Will Kirk / Johns Hopkins University

Semenza's siblings have said the fame and attention of receiving science's highest honor have certainly not gotten to their brother, who has been celebrated at nearly every turn since he received news of the award in early October.

"He's the same humble, hardworking, and quiet guy he's always been," said brother Matt Semenza. "For us, it's been very exciting. I got to see him win the Gairdner Award [for Biomedical Research] in Toronto and the 2016 Albert Lasker Basic Medical Research Award in New York. So this is like the apogee of the award road trip we've been on with him."

Laurene Graig, Semenza's sister, added that while the emotional moment on stage might have been out of character, her brother's unselfishness and humility are not.

"I really appreciate that [Gregg] has recognized all the people who have helped and supported him along the way," she said. "I think it takes a certain amount of grace to do that. I'm very proud of him. We all are. There's been a lot of 'we' when he talks, not 'I' or "my.'"

Image caption: Semenza (center) with his family

Image credit: Will Kirk / Johns Hopkins University

When asked about his accomplishments and research, Semenza frequently credits others, and considers himself fortunate to happen upon the discoveries that brought him to this point. He traces it all back to his days growing up in New York.

Born in New York City in 1956, Semenza spent his formative years in Tarrytown, New York, a village located in Westchester County along the Hudson River. Semenza called it a "great place to grow up," a small-town atmosphere only a few train stops away from New York City where he would often go on the weekends to tour museums. His mother, Kathryn, taught at an elementary school, so learning and education were always priorities for the young Semenza.

At Sleepy Hollow High School, he learned to love science from Nelson, who during his junior year alerted him to an opportunity to take part in a National Science Foundation summer program at the Boyce Thompson Institute for Plant Research, an independent research institute then located in Yonkers, New York, and now located on the campus of Cornell University in Ithaca.

There he would do simple experiments like exposing plants to viruses and detailing the signs of infection.

"I was all thumbs back then because this was the first time I'd done it," Semenza said. "But I still enjoyed it. And this experience was really important for me because it showed me this was something I'd like to do for a career. It was just one more link in the chain of events that led me on the path that ended up here."

This exposure to science at such a young age, and the mentoring he received from Nelson, is largely why Semenza now champions STEM education and the teaching profession. That was what compelled him to not only dedicate his Nobel Prize lecture to Nelson, he said, but also to share the long list of undergraduate students, graduate students, and postdocs who have worked with him over the past three decades at Johns Hopkins.

"I stopped doing experiments in my lab back in 1996," he said. "Since then, all the data has been generated by students and trainees. I can have all the greatest ideas in the world, but science is about generating data. If I didn't have all these people doing that, all these ideas wouldn't matter. We're not philosophers. We're scientists. If we have an idea, if we have a hypothesis, we have to prove it."

Complete coverage

As Johns Hopkins physician-scientist Gregg Semenza travels to Stockholm to accept his Nobel Prize, the Hub takes readers along for the journey, from his arrival in Sweden to his Nobel lecture to the grand Nobel Award ceremony and banquet

Mentoring students, he says, has been vitally important to him, as he feels the need to repay the debt of what his mentors did for him and pay it forward to the next generation.

That next generation was notably present at his Nobel Prize lecture, a celebration of science that many consider the most exciting part of the week as people get to hear directly from the Nobel laureates about their significant contributions to their fields. A long line of mostly students and young researchers snaked around the Aula Medica building that day, down steps and around the block, students such as Stephanie Chanda, a first-year biomedicine master's student at the Karolinska Institutet who had been in line with friends for hours to ensure she got in and got a good seat. "Of course, we are very interested in the Nobel lecture because we want to be researchers ourselves one day," Chanda said.

Also in the crowd were Semenza's family and friends and colleagues, including several of those he thanked in his talk.

"Having family and friends here is really the most important part of this experience, sharing this with them," Semenza said. "It's been great to have [my mom] here. Nobody has been more excited than she has. She's become something of a local celebrity back in Tarrytown, appearing in all the media, newspaper and television. ... She's very into it. And she deserves the attention.

"It's been an exciting week," he added, "from the time we stepped out of the car at the Grand Hotel to the throng of autograph seekers standing out in the cold waiting for us to come, to the thrill of giving the Nobel lecture yesterday. And having so many friends and family here to enjoy it with. That's really what has made it most special for me."

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A Nobel journey a lifetime in the making - The Hub at Johns Hopkins

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Here are five things you ought to understand about science, according to professor of genetic medicine Gregg Semenza.

This week, Semenzaalong with William Kaelin Jr. and Peter Ratcliffewill accept the 2019 Nobel Prize in Physiology or Medicine in Stockholm, Sweden, for discovering the gene that controls how cells respond to low oxygen levels.

In the two months since the award was announced, Semenza, director of the vascular program at the Institute for Cell Engineering at Johns Hopkins University, has spoken with audiences around the world about the implications of this work in understanding and eventually treating blood disorders, blinding eye diseases, cancer, diabetes, and other conditions. But hes also spoken about the value of basic science.

Here are five things Semenza says he wishes more people knew about science:

The Nobel Prizes usually go to older scientists for discoveries they made when younger, and because of this, Semenza says people may think that good science is solely the domain of older people.

We often make these findings early in our careers, but it is only much later that the significance of those discoveries becomes apparent, he says.

A lot of science is about taking small steps forward. Big leaps are often the result of collaboration, Semenza says.

For example, when he and his lab identified the HIF-1 gene, which controls cells under low oxygen conditions, they initially ran into problems trying to clone the genes DNApart of the process of learning more about a genes function and other characteristics. He got help from fellow Johns Hopkins scientist Thomas Kelly, who had expertise in a workaround approach: purifying the protein made by HIF-1, which is another way to learn more about the gene and its function in the cell.

There are places with very smart people, and there are places where everybody is friendly, Semenza says. But there are few places with smart people who are almost always willing to help you.

When we wrote the manuscript reporting the discovery of HIF-1, we submitted it to top-tier journals, and they did not find it to be of sufficient interest to warrant publication.

But that didnt stop him: Semenza got help from scientist Victor McKusick, and the Proceedings of the National Academy of Sciences published the paper. It has been cited in more than 6,000 scientific publications.

In high school, I had a biology teacher who inspired me and others to pursue careers in scientific research by teaching us about the scientists and the scientific process that led to discoveries, Semenza says.

She would often preface her description of a scientific discovery by saying, When you win your Nobel Prize, I dont want you to forget that you learned that here. We need to give more emphasis to teachers and reward them for the work that they do, which makes such a difference in the lives of so many.

The inventions and discoveries that come out of basic research are critical for the economy, public health, and treating disease earlier, Semenza says.

It is better, both for patients and for the economy, to treat diseases early rather than later, and we need more research to learn how to more effectively treat many cancers.

Source: Johns Hopkins University

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5 things a Nobel Prize winner wants you to know about science - Futurity: Research News

ByGreg Rienzi

STOCKHOLMA small group of men clutching notebooks and folders gathered Thursday afternoon outside Stockholm's Grand Hotel, a 145-year-old luxe waterfront accommodation in the historic city's Old Town. They were autograph hunters, and many had been there for hours in the December cold waiting for the signatures of the hotel's guests of honor. Since 1901, the Grand Hotel has hosted Nobel laureates and their families, and Thursday was arrival day in Sweden's capital for most of this year's 14 award winners.

As the skies darkened and the biting Baltic Sea winds whipped across the Vartan Strait, the crowd of autograph hounds only grew. One such gentleman, a 70-year-old freelance photographer named Hans, has stood outside the hotel on arrival day every year since 1976, when he collected the signature of Saul Bellow, that year's winner of the Nobel Prize for literature. In a well-worn red notebook, he held signatures of dozensperhaps hundredsof laureates including author Alice Munro and British biochemist Gregory Winter. The next one he sought would go on a photo he kept in a folder. "I hope he will sign," Hans said, pointing to the name he'd written in black marker, Gregg L. Semenza.

Minutes later, the Johns Hopkins School of Medicine professor and winner of the 2019 Nobel Prize for physiology or medicine gladly obliged, signing a dozen autographs or more just moments after he was whisked out of a Volvo XC40 SUV, the official car of Nobel Week, and onto the red carpet accompanied by his wife, Laura Margaret Kasch-Semenza. Other bystanders whipped out their phones and cameras to capture the moment. Semenza had been in Stockholm less than an hour, and he was already getting the rock star treatment.

Video credit: Len Turner and Dave Schmelick

In this city, the home and birthplace of the Nobel Prize, laureates are treated as celebrities, and the associated ceremonies are as much a part of popular culture in Sweden as the Academy Awards are in the U.S. After laureates arrive in Stockholm, they face a gauntlet of a schedule that includes press conferences, champagne receptions, lectures, a concert, school visits, and a trip to the Swedish Riksdag (parliament), all leading up to the grand white-tie affair award ceremony held on Dec. 10 at the Stockholm Concert Hall. Laureates will also participate in Nobel Minds, a roundtable TV discussion that is celebrating its 60th anniversary this year.

Annika Pontikis, director of communications for the Nobel Foundation, said the week is a whirlwind for each award recipient, most of whom are certainly not used to this level of attention and pageantry.

"There is a lot of expectation in the air when they arrive in Stockholm," Pontikis said. "We do our best to prepare them before and after they arrive for what is about to happen. The people of Sweden have been looking forward to this."

Image credit: Will Kirk / Johns Hopkins University

To keep them on schedule and handle all the small details, each laureate is assigned a personal attach, a young diplomat from the Swedish foreign ministry who meets them the moment they step off the plane and stays with them for the entirety of their stay.

So began the Nobel Week journey for Semenza, 63, who earned the prize for the groundbreaking discovery of the gene that controls how cells respond to low oxygen levels. Semenza shares the award, and the $913,000 cash prize, with William G. Kaelin Jr. and Sir Peter J. Ratcliffe.

Considered among the most prestigious awards in the world, Nobel Prizes have been awarded for achievements in physics, chemistry, physiology or medicine, literature, and peace since 1901 by the Nobel Foundation in Stockholm. A total of 916 individuals and 24 organizations have received the prize named in memory of Sweden's own Alfred Nobel, a businessman, chemist, engineer, and inventor known for the discovery of dynamite.

The week officially kicked off Thursday with a morning press event held at the Nobel Prize Museum in the Old Town. On hand were representatives of the Nobel Foundation and some of the week's key participants, including Sebastian Gibrand, chef for the Nobel Banquet who won the silver medal earlier this year at the Bocuse d'Or, the world's most prestigious international culinary competition. For this year's banquet menu, Gibrand and a team of 40 chefs will focus on locally sourced ingredients from Swedish producers to feed the 1,300-plus guests, including the Swedish Royal Family.

"We will use everything from root to top, and nose to tail, to make sure we use all of the product and nothing goes to waste," said Gibrand, adding what a great honor it was to be hosting the prestigious dinner he views as a symbol of peace.

On Friday morning, the Nobel laureates visited the Nobel Prize Museum, where they each autographed a chair in the museum's restaurant and donated a specially selected artifact to the museum's collection. Semenza donated a 27-year-old autoradiogram, an image on an X-ray film produced by the pattern of decay emissions from a distribution of radioactive phosphorus. This particular image, he said, was a critical step in the discovery of hypoxia-inducible factor 1, or HIF-1, which has far-reaching implications in understanding the impact of decreased oxygen levels in blood disorders, cancer, diabetes, coronary artery disease, and other conditions.

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As Johns Hopkins physician-scientist Gregg Semenza travels to Stockholm to accept his Nobel Prize, the Hub takes readers along for the journey, from his arrival in Sweden to his Nobel lecture to the grand Nobel Award ceremony and banquet

Erika Lanner, CEO and director of the Nobel Prize Museum, said the artifacts give the museum's visitors an opportunity to learn more about the discoveries and works that the laureates are rewarded for.

"We are mainly a museum of stories and ideas," Lanner said. "These objects that we humbly ask the Nobel laureates to donate to us bring life, meaning, and body to these stories, which we hope will serve as inspiration for a young audience. They also help us understand and get closer to the person, which is important in itself."

The Nobel Prize is so unique and special, Lanner said, because it underscores the impact one individual can have.

"The Nobel Prize is about the possibilities for ideas to change the world," she said.

Image caption: A crowd gathers outside the Nobel Museum to catch a glimpse of the laureates as they attend a private welcoming ceremony Friday

Image credit: Will Kirk / Johns Hopkins University

Weeks before he left for Stockholm, Semenza said that he was looking forward to the gamut of events leading up to the award celebration. In many ways, life had already changed for the modest researcher, who has gotten used to posing for pictures and selfies everywhere he goes.

"In a way, it will be more hectic than it's already been for me, but I feel we've had so much preparation for that week and a half. It will be good just to be on autopilot and have an attach to tell me what to do every step of the way. And I'm very good at taking orders," Semenza said with a laugh.

He said he was most excited about taking in the once-in-a-lifetime experience with family, friends, and mentors who helped make his discovery possible, and who he hoped would enjoy the memorable experience as much as he would. Johns Hopkins will be well represented among Semenza's guests in Stockholm, who include JHU President Ronald J. Daniels; Paul B. Rothman, dean of the medical faculty and CEO of Johns Hopkins Medicine; Charles Wiener, professor of medicine and president of Johns Hopkins Medicine International; Haig Kazazian, professor of genetic medicine; Landon King, professor of medicine and executive vice dean for the School of Medicine; Ted Dawson, professor of neurology and director of the Institute for Cell Engineering; and David Valle, professor of genetic medicine and director of the Institute of Genetic Medicine.

Image caption: The Nobel Prize award ceremony is a highly formal affair. Semenza is fitted for a white tie tuxedo with tails.

Image credit: Will Kirk / Johns Hopkins University

Shortly after his Thursday arrival, Semenza was driven to Hans Allde tailor shop in the city's business district to be fitted for the tuxedo that he will wear on the day of the award ceremony and banquet. He was fitted personally by owner Lars Allde, the son of the store's founder, who has worked with the majority of Nobel laureates since 1982.

Semenza looked relaxed and beaming as he entered the store, greeted as a VIP and introduced to the official photographer of 2019 Nobel Prize winners, who told him: "Get used to me. I will be with you every step of the way."

The visit was a brief onehis only big decision was what type of bow tie he would wear. Semenza left the store eager to return to his hotel, get some sleep, and prepare for what lies ahead.

"Tomorrow we get going for sure," he said. "I'm really looking forward to it."

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For Nobel laureates, a whirlwind welcome - The Hub at Johns Hopkins