CAMBRIDGE, Mass. and ROSTOCK, Germany and BERLIN, June 22, 2021 (GLOBE NEWSWIRE) -- Centogene N.V. (Nasdaq: CNTG), a commercial-stage company focused on generating data-driven insights to diagnose, understand, and treat rare diseases, will hold its first Virtual Investor Event, presented by its newly formed executive team.

Andrin Oswald, M.D., Chief Executive Officer at CENTOGENE, stated, Over the past 15 years, CENTOGENE has built a unique expertise and has become the leading data-driven insights provider purely focused on rare genetic diseases. We are now embarking on our next growth phase enabling the cure of 100 rare diseases within the next 10 years. This represents the potential to significantly contribute to reducing the burden of rare diseases.

This next chapter is powered by our unparalleled genomics knowledge, the worlds largest rare disease-centric Bio/Databank, global footprint, and strong established network of physicians, partners, and patients. Together with our AI and multiomic tools, this puts us at the focal point of precision medicine for genetically linked rare diseases driven by the ability to unlock the complexities of patients biology to diagnose, understand, and treat these diseases effectively. As the rare disease market is vast and often overlooked, and as our capabilities will contribute significantly to the sector, we believe that this new focus will offer substantial possibilities for value creation.

Diagnose. Understand. Treat.

Founded in 2006, CENTOGENE has long been known for its expertise in the field of rare disease genetics helping over 600,000 patients and building a rare disease-centric Bio/Databank. Aspiring to reduce the heavy burden of rare diseases through data-driven insights, the Company has established itself as the leading partner of choice for patients, physicians, and pharma partners.

At the Virtual Investor Event, the Company will announce its strategic multi-pronged approach to diagnose, understand, and treat rare diseases by finding, connecting, and investigating patients and their biology from around the world.

Strategic Priorities to Accelerate the Discovery, Development, and Access to Orphan Drugs

While the Company continues to drive targeted innovation, its priorities remain the same: investing and building its Diagnostics and Pharma segments to transform the science of clinical and genetic data into medical solutions for rare disease patients.

In both of CENTOGENEs core business segments, the Company has established unique positioning and has laid the foundation for growth and impact expected in the near-, mid-, and long-term. Leveraging its rare disease expertise while expanding technology capabilities, CENTOGENE is confident about its path to enabling the cure of 100 rare diseases.

Register for the VirtualInvestorEvent

The Company will be hosting the Virtual Investor Event today, June 22, 2021, at 9:00 a.m. - 11:00 a.m. EDT / 3:00 p.m. - 5:00 p.m. CEST. To register visit: https://www.centogene.com/virtual-investor-event.html

Participants may also access the conference call by dialing U.S. toll free +1 855 979 6654 or U.K. +44 (0) 800 640 6441 up to 10 minutes prior to the start of the call and by providing the conference ID number 182810. Other participant dial-in numbers can be found on the events registration page.

About CENTOGENE

CENTOGENE engages in diagnosis and research around rare diseases transforming real-world clinical, genetic, and multiomic data to diagnose, understand, and treat rare diseases. Our goal is to bring rationality to treatment decisions and to accelerate the development of new orphan drugs by using our extensive rare disease knowledge and data. CENTOGENE has developed a global proprietary rare disease platform based on our real-world data repository with over 3.9 billion weighted data points from approximately 600,000 patients representing over 120 different countries as of December 31, 2020.

The Companys platform includes epidemiologic, phenotypic, and genetic data that reflects a global population, as well as a biobank of patients blood samples and cell cultures. CENTOGENE believes this represents the only platform focused on comprehensive analysis of multi-level data to improve the understanding of rare hereditary diseases. It allows for better identification and stratification of patients and their underlying diseases to enable and accelerate discovery, development, and access to orphan drugs. As of December 31, 2020, the Company collaborated with over 30 pharmaceutical partners.

Important Notice and Disclaimer

This press release contains statements that constitute forward-looking statements as that term is defined in the United States Private Securities Litigation Reform Act of 1995, including statements that express the Companys opinions, expectations, beliefs, plans, objectives, assumptions, or projections regarding future events or future results, in contrast with statements that reflect historical facts. Examples include discussion of our strategies, financing plans, growth opportunities, and market growth. In some cases, you can identify such forward-looking statements by terminology such as anticipate, intend, believe, estimate, plan, seek, project or expect, may, will, would, could, or should, the negative of these terms or similar expressions. Forward-looking statements are based on managements current beliefs and assumptions and on information currently available to the Company. However, these forward- looking statements are not a guarantee of our performance, and you should not place undue reliance on such statements. Forward-looking statements are subject to many risks, uncertainties, and other variable circumstances, such as negative worldwide economic conditions and ongoing instability and volatility in the worldwide financial markets, the effects of the COVID-19 pandemic on our business and results of operations, possible changes in current and proposed legislation, regulations and governmental policies, pressures from increasing competition and consolidation in our industry, the expense and uncertainty of regulatory approval, including from the U.S. Food and Drug Administration, our reliance on third parties and collaboration partners, including our ability to manage growth and enter into new client relationships, our dependency on the rare disease industry, our ability to manage international expansion, our reliance on key personnel, our reliance on intellectual property protection, fluctuations of our operating results due to the effect of exchange rates, or other factors. Such risks and uncertainties may cause the statements to be inaccurate and readers are cautioned not to place undue reliance on such statements. Many of these risks are outside of the Companys control and could cause its actual results to differ materially from those it thought would occur. The forward-looking statements included in this press release are made only as of the date hereof. The Company does not undertake, and specifically declines, any obligation to update any such statements or to publicly announce the results of any revisions to any such statements to reflect future events or developments, except as required by law.

For further information, please refer to the Risk Factors section in our Annual Report for the year ended December 31, 2020, on Form 20-F filed with the SEC on April 15, 2021, and other reports and documents furnished to or filed with the U.S. Securities and Exchange Commission (SEC). You may get these documents by visiting EDGAR on the SEC website at http://www.sec.gov.

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CENTOGENE Sets Mission to Enable the Cure of 100 Rare Diseases Within the Next 10 Years Highlights strategic priorities to lead data-driven insights...

Vanderbilt University Medical Center will participate in a new federal initiative aimed at improving the use of polygenic risk scores (PRS) to predict complex diseases in diverse populations.

This week the National Institutes of Health (NIH) announced it will fund grants totaling $38 million over five years to establish and support a PRS Diversity Consortium. VUMC researchers will co-lead two of the consortiums six PRS centers.

Polygenic risk scores provide a genetic estimate of disease risk. Because most PRS were developed using data from European ancestry study samples, they perform poorly in predicting disease risk when applied to other racial and ethnic groups.

Nancy Cox, PhD, the Mary Phillips Edmonds Gray Professor of Genetics and director of the Vanderbilt Genetics Institute, will co-direct one of the centers with Yun Li, PhD, at the University of North Carolina at Chapel Hill, and Alexander Reiner, MD, at the University of Washington in Seattle.

Maggie Ng, PhD, associate professor of Medicine in the Division of Genetic Medicine at VUMC, will co-lead another center with Josep Mercader, PhD, and Alisa Manning, PhD, at the Broad Institute of MIT and Harvard in Cambridge, Massachusetts.

We focus largely on quantitative biomarkers of disease that are commonly measured for understanding disease risks and progression, mostly blood-based measures and those related to inflammatory biology, Cox said.

We also have a focus on developing and testing PRS in diverse populations, she added, because disproportionate numbers of people from minority populations in the United States fall outside the normal reference ranges.

The VUMC-Broad Institute collaboration will work on improving the PRS prediction of diabetes and its complications, which Ng called one of the greatest global health challenges of the 21st century.

The centers multi-disciplinary team will aggregate and analyze data from genome-wide association studies of more than 1.8 million individuals with type 1 and type 2 diabetes, gestational diabetes and glycemia-related complications, 35% of whom are non-European.

VUMCs biobank, called BioVU, will be an important resource because it contains a large number of genome-wide genotypes from diverse samples including African Americans and Hispanics.

VUMC also maintains for research purposes electronic health records of people who donated blood and other biological samples to BioVU, but from which all information that could identify them has been deleted.

These tools and data will help researchers improve the PRS prediction of diabetes and its progression in a setting where dramatic racial, ethnic and socioeconomic disparities exist, Ng said.

Improved prediction of diabetes, in turn, can inform more efficient and targeted preventive strategies within health care systems and across ethnically diverse populations and advance precision care, she said.

The National Human Genome Research Institute (NHGRI), part of NIH, will fund five awards for $33 million, while the National Cancer Institute will fund one award for $5 million.

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VUMC joins national effort to improve disease prediction in diverse populations - Johnson City Press (subscription)

Our results suggest that common genes and signaling pathways are involved in PTSD and migraine and this might explain why PTSD and migraine can cooccur frequently, said senior author on the study, Divya Mehta, PhD, of the Queensland University of Technology. This might further imply that common environmental risk factors for both PTSD and migraine might be acting on these genes.2

The study observed 6 pairs of monozygotic (MZ) twins discordant for PTSD and 15 pairs of MZ twins discordant for migraine. PTSD was measured through phone interviews conducted by an experienced interviewer using structured questions and DSM-IV criteria. All 6 pairs of twins were identified as having experienced a PTSD-qualifying potentially traumatic event as per the DSM-IV criteria. Migraine was assessed using the International Headache Society (IHS) diagnostic criteria, the International Classification of Headache Disorders, ICHD-3, together with a diagnosis of migraine with or without aura. Pairs of twins discordant for migraine with aura were chosen for the study.

Blood samples were taken from all participants. Association between DNA methylation and PTSD status was tested using linear mixed effects models with age, sex, and cell counts as covariates. Using the same study design as the PTSD sample of twins, the 15 pairs of MZ twins discordant for migraine were tested for association of methylation at genetic loci that overlap between PTSD and migraine using varied analyses.

At the epigenome-wide level, researchers assessed how many of the 1036 genes associated with PTSD overlapped with those significantly associated with migraine in the discordant migraine MZ twins.

We identified DAPK2 and TM6SF2 as two of the top overlapping genes between the two disorders. DAPK2 is a calmodulin-regulated protein kinase, it has been implicated in the intracellular degradation process essential for adaptation to metabolic stress (autophagy). TM6SF2 is associated with cardiovascular disease and plays a role in oxidative stress. These findings suggest that epigenetic changes in response to different types of stress may mediate stress phenotypes, said the studys authors.1

The findings could form the basis for new treatments. Epigenetic changes offer an excellent drug target, as they can often be reversed.

These results may have implications for treatments, as one medicine or therapy might only be effective for a single disorder, said Mehta. For co-occurring disorders such as PTSD and migraine, once we know which common genes are implicated in both disorders, we can develop new therapeutics to target these, thereby reducing symptoms and curing both.

References

1. Bainomugisa CK, Sutherland H, Parker R, et al. Using monozygotic twins to dissect common genes in posttraumatic stress disorder and migraine. Frontiers in Neuroscience. June 22, 2021. https://doi.org/10.3389/fnins.2021.678350

2. Frontiers. Twin study is first to reveal common genetic risk factors for PTSD and migraine.News release. June 22, 2021. https://blog.frontiersin.org/2021/06/22/neuroscience-twins-genes-risk-ptsd-migraine/

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Are Migraines and PTSD Linked? - Psychiatric Times

June is Migraine and Headache Awareness Month. Nearly one in four U.S. households has someone living with migraine. It is the number two cause of disability in the world, according to a study in the Journal of Headache and Pain, yet some people still dont recognize how debilitating migraine can be.

Abby Metzler, MD, an assistant professor of neurology at the University of Minnesota Medical School and a neurologist with M Health Fairview, explains migraine diagnosis, living with migraine and current treatment and prevention options.

Q: What are the symptoms of a migraine?Dr. Metzler: A migraine attack is a headache and other debilitating symptoms that lasts at least four hours and can go up to 72 hours, if untreated. The headache is usually pulsing or throbbing. People typically think of the headache as being on one side of the head, which is common, but it is also common to have a migraine attack that affects both sides. In addition to headache, migraine attacks also cause nausea or vomiting, or sensitivity to light and sound. A migraine attack affects someones ability to think and function and worsens with routine physical activity, like going up and down stairs.

It is not a one-time event, and it stereotypically happens the same way each time. By criteria, it has to happen at least five times before you can officially be diagnosed with the disorder, migraine.

About one-third of people with migraine have migraine with aura. Aura is a neurological disturbance that leads to headache and other symptoms. This can include seeing zig-zag lines, flashing lights, blind spots, numbness/tingling or more.

Q: How can someone differentiate between a headache caused by migraine or something like a stroke or brain tumor?Dr. Metzler: There are several features I look for when evaluating someone for secondary causes of headache or headaches that are not caused by a headache disorder itself. I like the acronym SNOOP4 to review signs that might require more investigation. SNOOP4 stands for:

Systemic signs fever, weight loss, history of cancer

Neurological exam abnormalities facial drooping, weakness, numbness or other neurological sign that isnt typical for the person

Older than 50 developing new headaches after age 50

Onset is acute pain level goes from zero to 10 in less than a minute. Someone experiencing a headache that comes all of a sudden and is very severe should go to the emergency department.

Pattern change change in frequency, intensity or symptoms usually associated with someones headaches

Progressive getting worse despite treating it how they normally do

Positional headache only when standing up or laying down

Precipitated by valsalva only happens with bearing down, coughing or sneezing

Q: How can someone alter the way they live to help reduce migraine attacks?Dr. Metzler: I use another acronym, SEEDS, for a lifestyle management strategy for people with migraine. It is important to note that people with migraine do not cause their migraine attacks, which are instead caused by the genetic neurologic disorder of migraine. These are some actions to help reduce the number of triggers, which can help to reduce the number of attacks, sometimes in combination with medications.

Sleep routine Go to bed and wake up at the same time.

Exercise Be active more days than not. People with headaches who exercise do better than people who dont.

Eating Eat healthy. There is not a specific recommended diet, but making healthier choices in general and not skipping meals will produce better results.

Diary of symptoms Keep track of when you have headaches and when they affect your functioning. This will help you and your doctor determine the best treatment plan.

Stress management Stress is the most commonly reported trigger for migraine. It is important to find ways to step back and prioritize yourself.

Q: Are there things people can do to prevent getting migraine?Dr. Metzler: Not really. Migraine is a genetic, neurologic disorder that is passed down in families. Research studies have identified dozens of genes in different families that cause the propensity for migraine attacks. There is about a 50/50 chance that the child of someone with migraine will also have migraine. However, the parent and child may be affected differently. For instance, the parent may have severe migraine disease and their child may have rare attacks. It is likely a combination of genetics and environment.

Q: What are some current treatment options for migraine?Dr. Metzler: For migraine treatment, there are many different acute and preventative options. The FDA has also approved a number of newer treatments for migraine. Your doctor can determine whether you are a candidate for a newer treatment.

CGRP (calcitonin gene-related peptide) inhibitors are approved for migraine prevention. They include erenumab, fremanezumab, galcanezumab and eptinezumab. They are monoclonal antibodies and are administered via monthly injections, except eptinezumab which is administered via an infusion every three months.

Botulinum Toxin (Botox) injections are also used as a preventative treatment for chronic migraine. People who use this method receive a set of injections over the head, neck, and shoulders every 12 weeks.

Rimegepant and ubrogepant are CGRP inhibitor pills that treat migraine. As soon as someone realizes they have a migraine attack, they take a pill for acute treatment, or they may take a pill every other day for prevention.

Lasmiditan is a serotonin agonist pill that treats migraine when it occurs. It may be a good option for patients who cannot take triptan medications.

None of these medications are available or should be taken without the consultation of a doctor.

Abby Metzler, MD, is an assistant professor of neurology at the University of Minnesota Medical School and a neurologist with M Health Fairview. She treats patients living with headaches at M Health Fairview Clinics and Surgery Center Minneapolis in the Neurology Clinic. She is board-certified by the American Board of Psychiatry & Neurology.

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About Talking...with U of MTalking...with U of M is a resource whereby University of Minnesota faculty answer questions on current and other topics of general interest. Feel free to republish this content. If you would like to schedule an interview with the faculty member or have topics youd like the University of Minnesota to explore for future Talking...with U of M, please contact University Public Relations at unews@umn.edu.

About the University of Minnesota Medical SchoolThe University of Minnesota Medical School is at the forefront of learning and discovery, transforming medical care and educating the next generation of physicians. Our graduates and faculty produce high-impact biomedical research and advance the practice of medicine. We acknowledge that the U of M Medical School, both the Twin Cities campus and Duluth campus, is located on traditional, ancestral and contemporary lands of the Dakota and the Ojibwe, and scores of other Indigenous people, and we affirm our commitment to tribal communities and their sovereignty as we seek to improve and strengthen our relations with tribal nations. For more information about the U of M Medical School, please visit med.umn.edu.

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Talking Migraine with the U of M - UMN News

Rheumatoid arthritis (RA) is a chronic, progressive autoimmune disease that can affect the hip joint. It can cause pain, stiffness, and restricted movement in one or both hips.

A person may experience hip pain on both sides of the body.

In this article, we look at how RA affects the hip. We also discuss its causes and symptoms and outline treatment options for managing the condition.

RA is a type of inflammatory arthritis, which occurs when an overactive immune system attacks healthy tissue in the body.

The hip joint consists of a ball and socket. The acetabulum, which is part of the pelvis bone, forms the socket. The femoral head, which is the top part of the thighbone, forms the ball.

A tissue called articular cartilage covers the surfaces of the ball and socket. This cartilage provides a smooth, slippery surface to allow the bones to move easily.

The hip joint also has a thin, protective covering called synovium. The synovium releases a lubricating fluid that allows better movement.

In people with RA, the synovium does not function properly. It becomes thicker and swollen and produces substances that attack the articular cartilage surrounding the hip joint.

RA usually affects smaller joints in the body to start with, such as in the hands and feet. As the condition progresses, it can spread to one or both hips.

According to the American Academy of Orthopaedic Surgeons (AAOS), people may experience RA symptoms in both hips. This is because RA typically affects the same joint on both sides of the body.

Symptoms of RA in the hip include:

Symptoms of RA may come and go. The Arthritis Foundation (AF) notes that joint pain or stiffness that lasts for 6 weeks or more and joint stiffness in the morning that lasts for 30 minutes or more may be a sign of RA.

RA can also affect other areas of the body. People may experience dull, aching pain in the:

People can also experience more general symptoms, including:

Osteoarthritis (OA) is another type of arthritis that can develop in the hip.

OA is the most common type of arthritis and occurs when the cartilage around the hip wears down. This causes the bones to rub together, creating uncomfortable symptoms and restricted movement.

OA leads to pain and stiffness in the hip and can cause difficulty walking. Other symptoms of OA that differ from those of RA include:

Experts are currently still unsure why the body attacks healthy tissue and causes RA.

Researchers believe genetic factors could play a role in the development of RA. People with the condition may have genes that respond to environmental triggers, such as viruses, bacteria, or stress.

The AF notes that a person is more likely to develop RA if they have a family member with the condition. It also seems to affect females more often. However, there is no known reason for this.

People can discuss a treatment plan with a healthcare professional. A combination of treatments may be the most effective at managing RA symptoms.

Medication may help manage pain and reduce inflammation in the body.

A doctor may recommend:

If RA does not respond to other treatments, people may require surgery. There are two main types of surgery for treating RA of the hip:

During total hip replacement, a surgeon will remove the damaged cartilage and bone of the hip joint. They will then use a metal or plastic joint to replace the ball-and-socket joint.

Total hip replacement surgery can help alleviate pain and increase the range of motion of the hip joint.

Synovectomy involves removing all or part of the synovium. The procedure may be suitable for people with RA that has only damaged the joint lining, rather than progressed to the cartilage and bone.

Physical therapy may help increase freedom of movement and the range of motion in the hips.

Specific exercises may also help strengthen the muscles surrounding the hip, which in turn supports the hip joint.

Learn more about exercises for RA pain here.

Alternative treatment options include:

People may want to try acupuncture or acupressure to address their RA symptoms.

Acupuncture involves inserting small needles into specific points of the body to relieve pain.

Acupressure is a similar technique, but it uses firm pressure rather than needles to target specific points in the body.

People may find that massage helps relax muscles and reduce pain, stress, and anxiety.

Relaxation techniques, such as deep breathing and meditation, may help relax the body and lower stress.

People can also take time to do activities they enjoy to relieve stress and support emotional well-being.

Certain supplements such as omega-3 and curcumin, which is a compound present in turmeric may help relieve pain and morning stiffness.

People should consult a healthcare professional to check whether it is safe for them to take a supplement.

Some traditional Chinese medicine (TCM) herbal remedies may help slow the progression of RA:

It is important to note that research into herbal medicine is limited. Moreover, the National Center for Complementary and Integrative Health states that high quality studies on TCM herbal products are lacking.

It also states that a person should consult a healthcare professional before using any TCM remedy, especially if they:

The following home remedies may help people manage RA symptoms and relieve pain:

Doctors may use the following to diagnose RA:

Symptoms of RA may affect areas of the body other than the hips and legs.

Other symptoms in the body can include:

RA can also cause inflammation of the heart and blood vessels, which can damage the heart muscle, nerves, and organs. People with RA may also have a low red blood cell count.

People can speak with a doctor if they have unexplained hip pain or any other symptoms of RA. An early and accurate diagnosis can help in providing effective treatment for the condition.

A doctor may refer people to a rheumatologist, who is a doctor specializing in inflammatory conditions developing in the joints, tendons, ligaments, bones, and muscles.

RA causes inflammation of the hip joint. It can result in pain, stiffness, and difficulty with movement.

A combination of treatment options, including medication, home remedies, and alternative treatments, may help manage symptoms and relieve pain.

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Rheumatoid arthritis in the hip: Symptoms and management - Medical News Today

A study from the Roslin institute published in BMC Genomics has identified genes in chickens that could offer resistance to harmful bacteria commonly found in poultry and could inform ways to limit the risk of associated food poisoning in people.

The research identified a large number of genes in chicken guts that may determine whether the birds are resistant to Campylobacter, according to the Roslin Institute.

Campylobacter causes an estimated 1.5 million illnesses each year in the United States. People can get Campylobacter infection by eating raw or undercooked poultry or eating something that touched it. They can also get it from eating other foods, including seafood, meat and produce, by contact with animals and by drinking untreated water. Although people with Campylobacter infection usually recover on their own, some need antibiotic treatment.

Specifically, Campylobacter jejuni is the leading cause of bacterial gastroenteritis in humans and the handling or consumption of contaminated poultry meat is a key source of infection. Selective breeding of poultry that exhibit elevated resistance to Campylobacter is a possible control strategy, scientists say.

Researchers studied the global transcriptional response of inbred chicken lines that differ in resistance to C. jejuni colonization at a key site of bacterial persistence. The insights from this study could inform research toward breeding chickens that are less likely to carry Campylobacter bacteria, and so limit the risk to poultry consumers.

Campylobacter is present in more than half of chicken sold, representing a significant risk to consumers, and breeding poultry resistant to the bacteria is one potential way to tackle this, said Mark Stevens, Ph. D and Personal Chair of Microbial Pathogenesis at the Roslin Institute. Our research is shedding light on how the genetic makeup of chickens influences their response to the bacteria, which could inform ways to breed poultry resistant to Campylobacter and thereby improve food safety.

Researchers tested the effects of Campylobacter infection on chickens that were bred to be resistant or susceptible to the bacteria. Analysis of gut tissue showed differences in activity of a large number of genes, including some involved in immunity, such as Major Histocompatibility Complex and antimicrobial peptides. The variation between these genes in susceptible and resistant chickens may partly explain their response to Campylobacter.

For more information about Campylobacter, please go here: about-campylobacter.com.

The Roslin Institute is a world-leading institute for animal science research and is part of the College of Medicine and Veterinary Medicine, University of Edinburgh.

(To sign up for a free subscription to Food Safety News,click here.)

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Roslin institute identifies genes in chickens that could offer resistance to harmful bacteria - Food Safety News

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International clinical trial yields mixed results with unclear cognitive effects but promising biomarker results

Randall Bateman, MD, director of the Dominantly Inherited Alzheimer Network-Trials Unit (DIAN-TU), an ongoing international clinical trial to evaluate experimental Alzheimers drugs, speaks with DIAN-TU participant Taylor Hutton. One of the drugs tested in the DIAN-TU, gantenerumab, improved biomarkers of disease despite unclear cognitive effects, prompting study leaders to offer participants the option of continuing to receive the drug and participate in follow-up examinations as part of a so-called open label extension.

An investigational Alzheimers drug reduced molecular markers of disease and curbed neurodegeneration in the brain, without demonstrating evidence of cognitive benefit, in a phase 2/3 clinical trial led by researchers at Washington University School of Medicine in St. Louis through its Dominantly Inherited Alzheimer Network-Trials Unit (DIAN-TU). These results led the trial leaders to offer the drug, known as gantenerumab, to participants as part of an exploratory open-label extension. The researchers continue to monitor changes in measures of Alzheimers disease in those participants who are receiving the drug.

The DIAN-TU study (ClinicalTrials.gov Identifier: NCT01760005), published June 21 in Nature Medicine, evaluated the effects of two investigational drugs gantenerumab, made by Roche and its U.S. affiliate, Genentech, and solanezumab, made by Eli Lilly and Co. in people with a rare, inherited, early-onset form of Alzheimers known as dominantly inherited Alzheimers disease or autosomal dominant Alzheimers disease. Such people are born with a mutation that causes Alzheimers, and experience declines in memory and thinking skills starting as early as their 30s or 40s.

Gantenerumab had a major impact on Alzheimers biomarkers, said principal investigator Randall J. Bateman, MD, director of DIAN-TU and the Charles F. and Joanne Knight Distinguished Professor of Neurology at Washington University. The drugs ability to shift multiple Alzheimers biomarkers toward normal indicates that it is positively affecting the disease process. The effect was strong enough that we launched an open-label extension of the trial so participants have the opportunity to stay on the drug as we continue to study it.

Over the past few decades, scientists have pieced together the changes that occur as Alzheimers develops, a process that takes 20 years or more. First, the protein amyloid beta starts forming plaques in the brain. Later, levels of tau and neurofilament light chain rise in the cerebrospinal fluid that surrounds the brain and spinal cord, and the brain begins to shrink. Then, tangles of tau protein form in the brain. Only then do people with the disease start exhibiting signs of memory loss and confusion.

In this study, 52 patients were randomized to gantenerumab, which led to a reduction in the amount of amyloid plaques in the brain, and lowered soluble tau and phospho-tau, and slowed the rise of neurofilament light chain levels in the cerebrospinal fluid. Neurofilament light chain is a marker that reflects neurodegeneration. Overall, gantenerumabs safety profile in this trial was consistent with that from other clinical trials of the investigational medicine, and no new safety issues were identified.

The primary endpoint of the DIAN-TU study was the prevention or slowing of cognitive decline in people who are nearly certain to develop Alzheimers due to genetic mutations. Neither drug met the primary endpoint, although the study wasnt able to determine effects on thinking and memory in participants who entered the study without symptoms, because they exhibited little to no decline in cognitive function. The study also was unable to assess the effects of higher doses of the drugs, which were escalated to the desired levels late in the trial after a protocol amendment. Participants who received gantenerumab started on a low dose and only started ramping up to a fivefold higher target dose about halfway through the trial, prompted by observations from other studies of gantenerumab.

However, as a secondary endpoint, the study also evaluated the effect of the drugs on molecular and cellular signs of Alzheimers disease. On these measures, gantenerumab showed potential benefit.

These biomarker results suggest that gantenerumab had a favorable impact on the target and downstream markers of Dominantly Inherited Alzheimers Disease, said Rachelle Doody, MD, PhD, global head of neurodegeneration at Roche and Genentech. We support the continued scientific investigation of gantenerumab in Washington Universitys exploratory, open-label extension study to build on learnings from DIAN-TU-001, and are grateful to be a part of this close collaboration between industry, academia and patients as we continue to tackle the complex challenge of Alzheimers disease. We are encouraged by the advancements being made and look forward to continued progress for people with Alzheimers disease.

This trial followed 144 participants for up to seven years; the average follow-up was about five years. All participants carry a genetic mutation that causes a form of Alzheimers dementia at early ages. The researchers recruited participants who were expected to develop symptoms within 15 years or who already had very mild symptoms of memory loss and cognitive decline at the trials outset. In most cases, their brains already showed early signs of disease. Participants were randomly assigned to receive solanezumab, gantenerumab or a placebo.

Although the trial focuses on people with rare mutations, drugs that are successful in this population would be promising candidates for preventing or treating the forms of Alzheimers that occur more commonly in older adults. The destructive molecular and cellular processes in the brain are similar in both types of the disease, Bateman said.

Salloway S, Farlow M, et al. A Trial of Gantenerumab or Solanezumab in Dominantly Inherited Alzheimers Disease. Nature Medicine. June 21, 2021. DOI: 10.1038/s41591-021-01369-8

Data analyzed in this paper was obtained with the support of the National Institute on Aging of the National Institutes of Health (NIH), grant numbers U01AG042791, U01AG042791-S1, R01AG046179, R01AG053267-S1 and U19AG032438; the Alzheimers Association; Eli Lilly and Co.; Roche and Genentech, a member of the Roche group; Avid Radiopharmaceuticals; GHR Foundation; an anonymous organization; Cogstate; Signant; the German Center for Neurodegenerative Diseases; the Raul Carrea Institute for Neurological Research; the Japan Agency for Medical Research and Development; and the Korea Health Industry Development Institute.

Washington University School of Medicines 1,500 faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Childrens hospitals. The School of Medicine is a leader in medical research, teaching and patient care, consistently ranking among the top medical schools in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Childrens hospitals, the School of Medicine is linked to BJC HealthCare.

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Investigational Alzheimer's drug improves biomarkers of the disease Washington University School of Medicine in St. Louis - Washington University...

Over this trying and sometimes surreal year, we have all been reminded that scientific breakthroughs are the result of committed action and, very often, enduring effort. For example, apparent rapid developments, like the COVID-19 vaccines, are built on years of careful progress and investment in understanding our immune systems.

Our mindset at Womens Health Research at Yale for the past 23 years has been committed action to uncover and use new findings to advance health, while also continuing to set the stage for the next major breakthroughs.

Right now, we are setting that stage by building a new classification strategy to better recognize heart attacks in women. We are exploring how CBD, a non-intoxicating component of cannabis largely used by women, affects the brains of women; seeking non-addictive alternatives for pain relief; determining how genetic mutations lead to breast cancer; identifying biological markers to allow the early diagnosis and treatment of colon cancer; figuring out the relationship of stress to psychological resilience in health care providers; and so much more.

Over the years, WHRY has discovered that a product of the bodys immune system associated with the disease lupus can penetrate cancer cells, offering a new path for treating cancers that develop from certain gene mutations. We were the first to test a behavioral therapy for girls with autism spectrum disorder that is now in clinical use. We demonstrated how beneficial bacteria in the body can lead to autoimmune disease, providing a promising target to advance treatment options.

We do this because todays investigations lead to both findings we can use now and to tomorrows discoveries.

It is why we build collaborations across medical disciplines, share our findings with the public and medical communities, train the next generation of researchers and medical practitioners, and establish support for data-based policies to improve the health of everyone.

All this is possible because of your generous support and commitment to better science and better lives. Thank you!

At WHRY, we often say, We dont know what we dont study. If the challenges of the past year have taught us anything, it is that we must continue working to understand all that we can about health and disease. And when it comes to sex and gender, we should not wait for the next crisis before addressing these critical components of our health.

With the greatest appreciation for your generous support,

Barbara Riley

Philanthropy Chair

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How Your Help Can Fund the Next Discovery in Women's Health Research - Yale School of Medicine

Using a multi-stranded, computer-based approach encompassing genetic and chemical information, clinical data, and the medical literature can help improve outcomes for individuals with inherited cardiomyopathy, according to an international group of researchers.

Many cardiovascular conditions have a genetic basis and inherited cardiomyopathy, where abnormal changes in the heart muscle can cause arrythmia and sudden cardiac death, is one such example. Around 1 in 500 people, have inherited cardiomyopathies, making it the most common form of genetic heart disease.

The recent collapse of Danish soccer star Christian Eriksen, likely due to such a cardiac condition, highlights the importance of early diagnosis and preventative measures for these individuals. However, while a lot is now known about the genetics of inherited arrythmias and cardiomyopathies, it is a complex area and good communication between medical geneticists, cardiologists and primary care doctors can be key to good patient outcomes.

Collating available information without help can also be difficult for clinicians. A major hurdle in adequate clinical and genetic care is that information is so dispersed across the literature. This increases the risk of misinterpretation, and leads to suboptimal care, Job Verdonschot, a researcher at the Maastricht University Medical Center who has a focus on this area, but was not involved in the current study, told Clinical OMICs.

Rameen Shakur is currently based at Massachusetts Institute of Technology and was previously a Wellcome fellow at the University of Cambridge and Wellcome Sanger Institute. He led the current study, which is published in the journal npj Genomic Medicine, which was a collaboration between researchers from the Wellcome Sanger Institute, University of Cambridge, Massachusetts Institute of Technology and Lund University.

To better assimilate genomic data into real world clinical options for the millions of patients with inherited cardiovascular diseases and their families, we require a more integrated appreciation of genetic, physical, bio-chemical and clinical data, Shakur explained in a press statement.

There is a lot of variation between individuals with cardiomyopathy in terms of disease prognosis and suitability of treatments, which can make accurate diagnosis and outcome prediction difficult for clinicians who often employ a wait and see approach.

To try and improve outcomes for patients, Shakur and colleagues created a computer-based model to better define the cardiomyopathy prognosis associated with different genetic variants impacting the function of cardiac troponin T, a protein that forms part of a complex of similar proteins that regulate and control cardiac muscle contraction. The model included genomic data and biological and chemical information about troponin function and impact on cardiomyopathy outcome.

Shakur and team also analyzed data from almost 1000 individuals included in around 100 earlier studies to help improve the accuracy of clinical outcome prediction for individuals with these mutations and to look for possible drug targets for treating these patients.

They found that there were hotspots of variation in the troponin T gene TNNT2 associated with higher or lower risk for carriers. For example, variation at regions 90130 was linked to increased risk for sudden cardiac death and variation located at regions 131179 with heart failure death and transplantation. In contrast, variation at locations 189 and 200288, was linked to lower risk outcomes.

The researchers now want to assess if new drugs to target these hotspots could be developed. The patient process in inherited cardiovascular disease, unlike oncology, has sort of lagged behind in actually getting to grips with developing personalized therapeutics, Shakur told Clinical OMICs. He explained that he and his colleagues are currently working on translating their findings into developing new more personalized therapeutics for individuals with these genetic variants.

In areas such as cardiology and oncology, where large amounts of clinical and genetic data need to be analyzed, adopting a computer-based approach, often using artificial intelligence approaches such as machine learning, can make diagnosis, outcome prediction and treatment more effective and efficient.

Verdonschot agrees that a multi-stranded and collaborative approach is key to improving patient outcomes. What is desperately needed is that working groups from professional societies, or project teams get together and produce a synthesis of all that is known to guide choices about the best personal strategies for patients. These can then be evaluated in the context of clinical trials, or observational studies.

Shakur thinks one way to improve collaboration and communication is to provide cardiologists with better training in genetics and genomics-based approaches and to continue to provide funding to academic projects with a focus on cardiovascular genetics.

He also thinks improved patient knowledge will help drive precision cardiology forward. Theres a whole new generation of patients now who understand their condition. And I think it will be an interesting few years moving forward, because now patients are more in tune with whats going on.

This study is the next step in integrating precision cardiology into clinical care, and working more closely with clinical genetics colleagues and patients with their families, bridging the gap between research and day to day treatment decisions. This research has allowed us to also open the door to potential new therapies, which we hope to introduce soon.

Read the rest here:
Multi-Stranded Approach Needed to Improve Outcomes for Inherited Heart Disease - Clinical OMICs News

WASHINGTON, June 22, 2021 /PRNewswire/ -- We are in a new era of medicine where groundbreaking biopharmaceutical research and development is transforming medicine, but these innovations are meaningless if they don't reach patients, including those in underserved communities. Health disparities are not new, but the COVID-19 pandemic put a spotlight on long-standing health inequities that affect diverse racial and ethnic communities in America. Data shows these populations have been disproportionately impacted by COVID-19. In fact, American Indian/Alaskan Native, Hispanic, and Black populations are approximately twice as likely to die from COVID-19, as compared to non-Hispanic whites.

Researchers have found that people with certain health conditions, including chronic conditions such as Alzheimer's disease, certain cancers, chronic kidney disease, chronic lung diseases, type 2 diabetes, heart conditions, HIV infection, liver disease, obesity, sickle cell disease and stroke, are at higher risk of severe illness or death from COVID-19. Many of these conditions are tied to health disparities that disproportionality affect racial and ethnic communities for genetic and environmental reasons, or due to inequities in social and economic conditions.

Today, PhRMA released a new report exploring the 829 medicines in development that aim to address the diseases and conditions that affect racial and ethnic communities at a higher rate and are also associated with worse COVID-19 outcomes.

Among the medicines in development to improve management of these diseases are:

It is critical that all patients, including historically underserved racial and ethnic communities, have access to medicines. One way to reduce barriers to health care access and enable everyone to benefit from new medicines is to ensure that clinical trials are diverse and inclusive and include participants representative of the population the medicine intends (or aims) to treat. The biopharmaceutical industry has been working with patients, communities, regulatory authorities, health care practitioners, academics and policymakers to enhance diversity in clinical trials, so the clinical trial population testing medicines better reflect the patients that will use the new therapies and medicines should they are approved by the U.S. Food and Drug Administration.

To this end, PhRMA and its member companies have voluntarily adopted first-ever industry-wide principles on clinical trials diversity, adding a new chapter to the already existing Principles on Conduct Clinical Trials & Communication of Clinical Trial Results.The new clinical trial diversity principles are designed to build trust, reduce barriers to clinical trial access, enhance an understanding of drug effects in diverse patient populations, and promote the sharing of information on policies and practices to increase clinical trial diversity.

Equity is critical to the health and well-being of diverse racial and ethnic communities, and it remains essential to a robust ecosystem of innovation. America's biopharmaceutical companies are pushing for necessary systemic and long-term change to better meet the needs of underserved communities in America.

To learn more about the PhRMA Equity Initiative and PhRMA's commitment to inclusion, visit https://phrma.org/Equity and tune in to The Atlantic's Health Equity Summit where PhRMA's Chief Operating Officer, Lori Reilly, and Genentech's Chief Diversity Officer, Quita Highsmith, will have a conversation about building trust in clinical trials.

Learn more about the medicines in development to address health equity here.

This post originally appeared on the Catalyst blog.

CONTACT:Andrew Powaleny,[emailprotected], 202-835-3460

SOURCE Pharmaceutical Research and Manufacturers of America (PhRMA)

https://phrma.org/

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More than 800 medicines are in development for diseases that disproportionately affect racial and ethnic communities - PRNewswire