Category Archives: Genetic medicine

According to a recent study, increased levels of stress hormone cortisol in young children who are separated from their parents, especially mothers, could have a long-term genetic impact on future generations.

In an analysis published by the Journal of the Royal Society of Medicine, experts in the emotional needs of small children say that several studies show that small children cared for outside the home, especially in poor quality care and for 30 or more hours per week, have higher levels of cortisol than children at home.

Professor Sir Denis Pereira Gray, who wrote the paper with two colleagues, said: Cortisol release is a normal response to stress in mammals facing an emergency and is usually useful. However, sustained cortisol release over hours or days can be harmful.

The authors said that raised cortisol levels are a sign of stress and that the time children spend with their parents is biologically more important than is often realised.

Raised cortisol levels are associated with reduced antibody levels and changes in those parts of the brain which are associated with emotional stability.

Environmental factors interact with genes so that genes can be altered, and once altered by adverse childhood experiences, can pass to future generations. Such epigenetic effects need urgent study, said the authors.

Sir Denis added: Future research should explore the links between the care of small children in different settings, their cortisol levels, DNA, and behaviour.

(This story has been published from a wire agency feed without modifications to the text.)

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Stress in kids separated from parents may leave long-term genetic impact - Hindustan Times

The fountain of youth may be lurking in the DNA of a remarkable fish which manages to survive out of water for several lifetimes.

African turquoise killifish which are native to Zimbabwe and Mozambique, inhabit shallow puddles that are prone to drying out, leaving the fish stranded for large parts of the year.

But to beat the problem, killifish embryos enter a state of suspended animation called diapause where they essentially stop the clock until the rain returns and they resume life as if nothing has happened.

Now scientists at Stanford University and theStowers Institute for Medical Researchhave worked out how they do it and believe it could help humans prevent ageing, or even hibernate, which might be necessary on lengthy journeys into space.

A study of killifish DNA showed that during diapause, genes which trigger the rapid turnover of cells dial down, as do those involved in metabolism, while those involved in muscle maintenance become more active.

Scientists are now keen to find out if activating the same genes in humans could prevent ageing and disease in later life.

The killifish lives in transient ponds that are only present during the rainy season and entirely desiccate during the dry season, the authors wrote in the journal Science.

To survive the long drought and enable perpetuation of the species, African killifish embryos enter diapause.

Although features of diapause have been described in killifish species the mechanisms by which diapause protects organisms remain unknown.

The time spent in diapause does not come with observed tradeoffs for future life, and diapause confers protective mechanisms to complex organs against damage caused by the passage of time.

Killifish survive for around four to six months so can complete their lifecycle and spawn before their puddle drys out.

Commenting on the research, Marc Van Gilst, of the Department of Anesthesiology and Pain Medicine, University of Washington, Seattle, said: In the simplest sense, aging is considered the inevitable wear and tear brought on by the passage of time.

The basic idea is that the more time passes, the more an animal ages and the more it progresses toward its ultimate demise.

This simplistic perspective is somewhat fatalistic and defines time as the ultimate enemy of youth.

However, it has been established in many animals that aging is also heavily influenced by genetic and physiological programs, such that aging may not necessarily be an inevitable consequence.

Dr Alejandro Sanchez Alvarado, Scientific Director, Stowers Institute for Medical Research, added: "Our work provides us with an opportunity to make inroads into understanding this fascinating natural manifestation of suspended animation in the vertebrate killifish."

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How a fish out of water could help humans find the fountain of youth - Telegraph.co.uk

Advances in molecular biology and human genetics, coupled with the completion of the Human Genome Project and the increasing power of quantitative genetics to identify disease susceptibility genes, are contributing to a revolution in the practice of medicine. In the 21st century, practicing physicians will focus more on defining genetically determined disease susceptibility in individual patients. This strategy will be used to prevent, modify, and treat a wide array of common disorders that have unique heritable risk factors such as hypertension, obesity, diabetes, arthrosclerosis, and cancer.

The Division of Genetic Medicine provides an academic environment enabling researchers to explore new relationships between disease susceptibility and human genetics. The Division of Genetic Medicine was established to host both research and clinical research programs focused on the genetic basis of health and disease. Equipped with state-of-the-art research tools and facilities, our faculty members are advancing knowledge of the common genetic determinants of cancer, congenital neuropathies, and heart disease. The Division faculty work jointly with the Vanderbilt-Ingram Cancer Center to support the Hereditary Cancer Clinic for treating patients and families who have an inherited predisposition to various malignancies.

Genetic differences in humans at the molecular level not only contribute to the disease process but also significantly impact an individuals ability to respond optimally to drug therapy. Vanderbilt is a pioneer in precisely identifying genetic differences between patients and making rational treatment decisions at the bedside.

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Genetic Medicine | Department of Medicine

Governor Andrew M. Cuomo today announced a 30-day amendment to the FY 2021 Executive Budget which will include legislation to establish the SUNY Curing Alzheimer's Health Consortium within the State University of New York. The Consortium will work to identify genes that predict an increased risk for developing Alzheimer's and collaborate with public and private research institutions on projects and studies to identify opportunities to develop new therapeutic treatment and cures for Alzheimer's. The goal of the Consortium will be to map the genetics of 1 million people, suffering from or at-risk of developing Alzheimer's Disease, over 5 years. This new wealth of data will support researchers as they work towards developing newtreatments and cures for the disease.

"Alzheimer's Disease affects hundreds of thousands of New Yorkers each year and takes a devastating toll on both patients and caregivers who lack access to sufficient treatment options due to an insufficient body of research"Governor Cuomo said."Genomics have made significant progress in the diagnosis and treatment of diseases ranging from cancer to cardiovascular disease, and could present major breakthroughs in the fight against Alzheimer's Disease. The Curing Alzheimer's Health Consortium will collect genomic data on a statewide scale and support genetic researchers as they work to slow the deadly progress of this disease."

SUNY will issue a request for proposals in partnership with Empire State Development's Life Sciences Initiative for private providers to partner with the SUNY system and other not-for-profit and private hospitals, and non-profit higher education research institutions to map the genomes of individuals suffering from or at risk of Alzheimer's.The ESD Life Science Initiative will provide $20M in existing funding to the Consortium to identify and recruit 200,000 people for genetic testing as part of phase one of the initiative.

Entities awarded the RFP will partner with SUNY's systems, including SUNYUpstate Medical, SUNY Downstate Medical, Renaissance School of Medicine at Stony Brook University,Jacobs School of Medicine and Biomedical Sciences at University at Buffalo, as well asother medical centers and hospitals,to launch an initial phase of their partnership that will map 1 million people suffering from, or at risk of, Alzheimer's over 5 years.Upon completion of the mapping, the resulting database will be made freely available to advance research on Alzheimer's Disease.

Alzheimer's in New York

According to the Department of Health, in 2017 an estimated 390,000 individuals in New York State suffered from Alzheimer's Disease, a figure that is expected to increase to 460,000 by 2025. Despite its prevalence, there remains a concerning lack of research and available treatment options to address Alzheimer's, which contributes to staggering disability and disease burden for patients, their families and society, and billions in economic costs annually to the State

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Governor Cuomo Announces 30-Day Amendment to FY 2021 Executive Budget to Establish SUNY Curing Alzheimer's Health Consortium - ny.gov

PMC President: Report reminds us that personalized medicine offers new hope to patients, opportunities to avoid unsafe or ineffective treatment plans

WASHINGTON, Feb. 21, 2020 /PRNewswire/ --In a report released this morning, the Personalized Medicine Coalition (PMC) explains how 12 personalized treatments and seven diagnostics the U.S. Food and Drug Administration (FDA) approved or cleared in 2019 will improve patient care and make the health system more efficient by addressing root causes of rare diseases, expanding treatment options for cancer patients, and targeting therapies to responder populations. The approvals and clearance decisions expand the frontiers of the rapidly evolving field of personalized medicine for the benefit of patients and health systems.

Personalized Medicine at FDA: The Scope & Significance of Progress in 2019defines personalized medicine as a field "in which physicians use diagnostic tests to determine which medical treatments will work best for each patient or use medical interventions to alter molecular mechanisms, often genetic, that cause disease or influence a patient's response to certain treatments." The report classifies 11 new therapeutic molecular entities and one gene therapy as personalized treatments. Five of those treatments are the first to address root causes of devastating rare diseases. Four others provide new options for cancer patients, and two include FDA labeling that will help patients avoid debilitating and costly adverse side effects. The report also explains how seven newly cleared or approved diagnostics will help make the health care system more efficient by targeting treatments to only those patients who will benefit from them, sparing expenses and side effects for those who will not.

"Personalized Medicine at FDA: The Scope & Significance of Progress in 2019 reminds us that personalized medicine offers new hope to patients with devastating diseases as well as opportunities to avoid prescribing therapies that will be unsafe or ineffective for certain populations of patients," said Edward Abrahams, President, PMC.

In classifying 11 of the 44 (25 percent) new therapeutic molecular entities FDA approved last year as personalized medicines, this year's report marks the sixth straight year that personalized medicines have accounted for more than 20 percent of the agency's new drug approvals. These approvals have increased sharply since 2005, when personalized medicines accounted for just 5 percent of newly approved therapies.

About the Personalized Medicine Coalition:The Personalized Medicine Coalition (PMC), representing innovators, scientists, patients, providers and payers, promotes the understanding and adoption of personalized medicine concepts, services and products to benefit patients and the health system. For more information about PMC, visit http://www.personalizedmedicinecoalition.org.

PRESS CONTACT

Christopher J. Wells Vice President, Public Affairs Personalized Medicine Coalition cwells@personalizedmedicinecoalition.org (202) 589-1755

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Personalized Medicine Products Advanced by FDA in 2019 Address Root Causes of Rare Diseases, Offer Expanded Options for Cancer Patients, and Help...

DUBLIN, Feb. 21, 2020 /PRNewswire/ -- The "Global Precision Medicine Market Analysis 2019" report has been added to ResearchAndMarkets.com's offering.

The Global Precision Medicine market is expected to reach $144.4 billion by 2026, growing at a CAGR of 14.5% from 2018 to 2026.

Some of the factors such as increasing the acceptance rate of gene therapies in developed economies and growing advancements in cancer biology are fuelling market growth. However, high cost of the development and increasing price of genetic testing, is restraining the market growth.

Based on the technology, companion diagnostics segment has witnessed significant growth. Companion diagnostics help healthcare experts to assess the advantages and side-effects or risk of therapeutic products on a patient.

The key vendors mentioned are Teva Pharmaceutical Industries, Tepnel Pharma Services, Quest Diagnostics Incorporated, Qiagen, Pfizer, Novartis, Nanostring Technologies, Medtronic, Laboratory Corporation of America Holdings, Intomics, Hoffmann-La Roche, Ferrer inCode, Eagle Genomics, and Biocrates Life Sciences.

Key Questions Answered in the Report

Key Topics Covered

1 Market Synopsis

2 Research Outline

3 Market Dynamics3.1 Drivers3.2 Restraints

4 Market Environment

5 Global Precision Medicine Market, By Product5.1 Introduction5.2 Services5.3 Instruments5.4 Consumables

6 Global Precision Medicine Market, By Technology6.1 Introduction6.2 Targeted Therapeutics6.3 Molecular Diagnostics6.4 Gene Sequencing6.5 Drug Discovery6.6 Companion Diagnostics6.7 Bioinformatics6.8 Big Data Analytics6.9 Pharmacogenomics (PGX)6.10 Other Technologies

7 Global Precision Medicine Market, By Therapeutics7.1 Introduction7.2 Genetic Tests7.3 Direct to Consumer Tests7.4 Immunology7.5 Gastroenterology7.6 Neurology/Physiatry7.7 Infectious Diseases7.8 Central Nervous System (CNS)7.9 Cardiovascular Disease (CVD)7.10 Cancer/Oncology7.11 Skin Diseases7.12 Respiratory Diseases7.13 Renal Disease7.14 Pulmonary Disease7.15 Ophthalmology7.16 Metabolic Disease7.17 Hematology

8 Global Precision Medicine Market, By End-user8.1 Introduction8.2 Pharmaceutical Companies8.3 Medical Devices8.4 Hospitals8.5 Home Care8.6 Diagnostic Companies8.7 Biotechnology Companies8.8 Healthcare-IT/Big Data firms8.9 Clinical Laboratories

9 Global Precision Medicine Market, By Geography9.1 Introduction9.2 North America9.3 Europe9.4 Asia-Pacific9.5 South America9.6 Middle East & Africa

10 Strategic Benchmarking

11 Vendors Landscape11.1 Teva Pharmaceutical Industries Ltd.11.2 Tepnel Pharma Services11.3 Quest Diagnostics Incorporated11.4 Qiagen N.V.11.5 Pfizer Inc.11.6 Novartis AG11.7 Nanostring Technologies11.8 Medtronic11.9 Laboratory Corporation of America Holdings11.10 Intomics11.11 Hoffmann-La Roche11.12 Ferrer inCode11.13 Eagle Genomics Ltd.11.14 Biocrates Life Sciences AG

For more information about this report visit https://www.researchandmarkets.com/r/i41sk8

Research and Markets also offers Custom Research services providing focused, comprehensive and tailored research.

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Research and Markets Laura Wood, Senior Manager press@researchandmarkets.com

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Global Precision Medicine Market Review 2016-2019 and Forecast to 2026, Featuring Financials of Key Players - PRNewswire

Recipients of INF awards, from left, areSumeet Banker, Jennifer Woo-Baidal, Andrew Geneslaw, Julia Wynn, and Rebecca Hough. Not pictured: Michael DiLorenzo. (Photo: Charles Manley)

Six Columbia pediatrics researchers were awarded start-up funding from the Department of Pediatrics through a new Innovation Nucleation Fund. The recipients, announced during a department faculty meeting on Feb. 13, areSumeet Banker, MD, MPH,Michael DiLorenzo, MD, Julia Wynn, MS,Rebecca Hough, MD, PhD,Jennifer Woo-Baidal, MD, MPH, andAndrew Geneslaw, MD.

The fund wasestablished this year with contributions to the Department of Pediatrics from private donorsand is designed to bring a venture capital approach to supporting new research in childrens health.

The Innovation Nucleation Fund will allow our talented faculty the freedom to pursue innovative, bold ideas in research that could lead to the next major breakthrough in childrens health, saysJordan S. Orange, MD, PhD, the Reuben S. Carpentier Professor and Chair of the Department of Pediatrics at Columbia University Vagelos College of Physicians and Surgeons.

Awards of $10,000 to $50,000 were given to faculty whose projects demonstrated an ability to advance the departments mission of engaging in advocacy, clinical work, education, and basic or clinical translational research.

Advocacy

Sumeet Banker, MD, MPH,assistant professor of pediatrics in child and adolescent health, will study how to improve disparities in care and communication for children and families with limited proficiency in English.

Clinical Program

Michael DiLorenzo, MD,assistant professor of pediatrics in pediatric cardiology, will investigate the use of transcatheter-based imaging to treat lung problems caused by the accumulation of lymphatic fluid in children with congenital heart defects.

Education

Julia Wynn, MS, associate professor of genetic counseling in molecular genetics, will develop an interactive video educational tool to increase participation in pediatric genomics studies. Co-investigators on the project are Priyanka Ahimaz, MS, assistant professor of genetic counseling; Ilana Chilton, MS, lecturer in genetic counseling; Emily Griffin, MS, lecturer in genetic counseling; and Rebecca Hernan, MS, genetic counselor.

Basic/Translational Research

Rebecca Hough, MD, PhD,assistant professor of pediatrics in pediatric critical care medicine, will use imaging of live mouse lungs to better understand cell-to-cell communication underlying pediatric acute respiratory distress syndrome, with the goal of developing targeted therapies for the condition.

Clinical/Translational Research

Jennifer Woo-Baidal, MD, MPH, assistant professor of pediatrics in pediatric gastroenterology, hepatology, and nutrition, with co-investigator Dodi Meyer, MD, professor of pediatrics, will evaluate the implementation of Food FARMacia, a novel, clinically based food assistance program to prevent childhood obesity by tackling food insecurity in families with children under age 5.

Faculty INF Award

Andy Geneslaw, MD,instructor in pediatrics in pediatric critical care medicine, will use mobile technology to understand the neurodevelopment effect of severe respiratory failure in infants and toddlers.

A total of 25 proposals were submittedfor consideration by five senior faculty from the Department of Pediatrics.The application process was extremely competitive, and we received many superb proposals, says Orange. We look forward to seeing the impact of these brilliant researchers and their efforts in the near future.

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Columbia Pediatrics Researchers Receive Seed Funding for Innovative Research - Columbia University Irving Medical Center

Do I know Im at risk for developing dementia? You bet.

My father died of Alzheimers disease at age 72; my sister was felled by frontotemporal dementia at 58.

And thats not all: Two maternal uncles had Alzheimers, and my maternal grandfather may have had vascular dementia. (In his generation, it was called senility.)

So what happens when I misplace a pair of eyeglasses or cant remember the name of a movie I saw a week ago? Now comes my turn with dementia, I think.

Then I talk myself down from that emotional cliff.

Am I alone in this? Hardly. Many people, like me, whove watched this cruel illness destroy a family member, dread the prospect that they, too, might become demented.

The lack of a cure or effective treatments only adds to the anxiety. Just this week, news emerged that another study trying to stop Alzheimers in people at extremely high genetic risk had failed.

How do we cope as we face our fears and peer into our future?

Andrea Kline, whose mother, as well as her mothers sister and uncle, had Alzheimers disease, just turned 71 and lives in Boynton Beach, Florida. Shes a retired registered nurse who teaches yoga to seniors at community centers and assisted-living facilities.

I worry about dementia incessantly. Every little thing that goes wrong, Im convinced its the beginning, she told me.

Because Kline has had multiple family members with Alzheimers, shes more likely to have a genetic vulnerability than someone with a single occurrence in their family. But that doesnt mean this condition lies in her future. A risk is just that: Its not a guarantee.

The age of onset is also important. People with close relatives struck by dementia early before age 65 are more likely to be susceptible genetically.

Kline was the primary caregiver for her mother, Charlotte Kline, who received an Alzheimers diagnosis in 1999 and passed away in 2007 at age 80. I try to eat very healthy. I exercise. I have an advance directive, and Ive discussed what I want [in the way of care] with my son, she said.

Lately, Ive been thinking I should probably get a test for APOE4 [a gene variant that can raise the risk of developing Alzheimers], although Im not really sure if it would help, Kline added. Maybe it would add some intensity to my planning for the future.

I spoke to half a dozen experts for this column. None was in favor of genetic testing, except in unusual circumstances.

Having the APOE4 allele [gene variant] does not mean youll get Alzheimers disease. Plenty of people with Alzheimers dont have the allele, said Mark Mapstone, a professor of neurology at the University of California-Irvine. And conversely, plenty of people with the allele never develop Alzheimers.

Tamar Gefen, an assistant professor of psychiatry and behavioral sciences at Northwestern Universitys Feinberg School of Medicine, strongly suggests having an in-depth discussion with a genetic counselor if youre considering a test.

Before you say I have to know, really understand what youre dealing with, how your life might be affected, and what these tests can and cannot tell you, she advised.

Karen Larsen, 55, is a social worker in the Boston area. Her father, George Larsen, was diagnosed with vascular dementia and Alzheimers at age 84 and died within a year in 2014.

Larsen is firm: She doesnt want to investigate her risk of having memory or thinking problems.

Ive already planned for the future. I have a health care proxy and a living will and long-term care insurance. Ive assigned powers of attorney, and Ive saved my money, she said. Eating a healthy diet, getting exercise, remaining socially engaged I already do all that, and I plan to as long as I can.

What would I do if I learned some negative from a test sit around and worry? Larsen said.

Currently, the gold standard in cognitive testing consists of a comprehensive neuropsychological exam. Among the domains examined over three to four hours: memory, attention, language, intellectual functioning, problem-solving, visual-spatial orientation, perception and more.

Brain scans are another diagnostic tool. CT and MRI scans can show whether parts of the brain have structural abnormalities or arent functioning optimally. PET scans (not covered by Medicare) can demonstrate the buildup of amyloid proteins a marker of Alzheimers. Also, spinal taps can show whether amyloid and tau proteins are present in cerebrospinal fluid.

A note of caution: While amyloid and tau proteins in the brain are a signature characteristic of Alzheimers, not all people with these proteins develop cognitive impairment.

Several experts recommend that people concerned about their Alzheimers risk get a baseline set of neuropsychological tests, followed by repeat tests if and when they start experiencing worrisome symptoms.

When it comes to thinking and memory, everyone is different, said Frederick Schmitt, a neurology professor at the University of Kentucky. Having baseline results is very helpful and allows us to more carefully measure whether, in fact, significant changes have occurred over time, he said.

Nora Super, senior director of the Milken Institute Center for the Future of Aging, watched her father, Bill Super, and all three of his siblings succumb to Alzheimers disease over the course of several years falling, she said, like a row of dominoes.

One of her sisters was tested for the APOE4 genetic variant; results were negative. This is no guarantee of a dementia-free future, however, since hundreds of genes are implicated in Alzheimers, Lewy body dementia, frontotemporal dementia and vascular dementia.

Rather than get genetic or neuropsychological tests, Super has focused on learning as much as she can about how to protect her brain. At the top of the list: managing her depression as well as stress. Both have been linked to dementia.

Also, Super exercises routinely and eats a MIND-style diet, rich in vegetables, berries, whole grains, nuts, fish and beans. She is learning French (a form of cognitive stimulation), meditates regularly and is socially and intellectually active.

According to a growing body of research, physical inactivity, hearing loss, depression, obesity, hypertension, smoking, social isolation, diabetes and low education levels raise the risk of dementia. All of these factors are modifiable.

What if Super started having memory problems? I fear I would get really depressed, she admitted. Alzheimers is such a horrible disease: To see what people you love go through, especially in the early stages, when theyre aware of whats happening but cant do anything about it, is excruciating. Im not sure I want to go through that.

Gefen of Northwestern said she tells patients that if [cognitive testing] is something thats going to stress you out, then dont do it.

Nigel Smith, 49, had a change of heart after caring for his mother, Nancy Smith, 81, whos in hospice care in the Boston area with Alzheimers. When he brought his mother in for a neuropsychological exam in early 2017 and she received a diagnosis of moderate Alzheimers, she was furious. At that point, Nancy was still living in the familys large home in Brookline, Massachusetts, which she refused to leave.

Eventually, after his mother ended up in the hospital, Smith was given legal authority over her affairs and he moved her to a memory care unit.

Now, shes deteriorated to the point where she has about 5% of her previous verbal skills, Nigel said. She smiles but she doesnt recognize me.

Does he want to know if something like this might lie in his future?

A couple of years ago, Smith said he was too afraid of Alzheimers to contemplate this question. Now hes determined to know as much as possible, not so much because Im curious but so I can help prepare myself and my family. I see the burden of what Im doing for my mother, and I want to do everything I can to ease that burden for them.

Kim Hall, 54, of Plymouth, Minnesota, feels a similar need for a plan. Her mother, Kathleen Peterson, 89, a registered nurse for over 50 years, was diagnosed with vascular dementia five years ago. Today, she resides in assisted living and doesnt recognize most of her large family, including dozens of nieces and nephews who grew up with Hall.

Hall knows her mother had medical issues that may have harmed her brain: a traumatic brain injury as a young adult, uncontrolled high blood pressure for many years, several operations with general anesthesia and an addiction to prescription painkillers. I dont share these, and that may work in my favor, she said.

Still, Hall is concerned. I guess I want to know if Im at risk for dementia and if there is anything I can do to slow it down, she said. I dont want what happened to my mother to happen to me. Probably, Hall speculated, shell arrange to take a neuropsychological exam at some point.

Several years ago, when I was grieving my sisters death from frontotemporal dementia, my doctor suggested that a baseline exam of this sort might be a good idea.

I knew then I wouldnt take him up on the offer. If and when my time with dementia comes, Ill have to deal with it. Until then, Id rather not know.

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Stalked by The Fear That Dementia Is Stalking You - Kaiser Health News

All healthy families are alike, a DNA-conscious Leo Tolstoy might have written, and thereby entirely distinct from all thoseeach miserable in its own waywhose bodies or minds are threatened by their very bloodlines. But the Russian author would have been just as mistaken as he was in the famous opening lines of Anna Karenina, where he divided happy families from unhappy ones. As two remarkable books show, there is as much to link as there is to separate the cancer-stricken Gross family in Ami McKays recent memoir Daughter of Family G and the Galvins with their six schizophrenic sons, the subjects of Robert Kolkers forthcoming Hidden Valley Road. Over the course of decades, including times when medical orthodoxy was often intensely hostile to the idea of heritability in the diseases that devastated their families, the two American clans became significant factors in advancing genetic research into cancer and schizophrenia.

Together, their family stories touch on most of the burning issues in contemporary medicine, including the role of genes and their complex interplay with environmental factors in our fates, and the related issues of privacy, family ties and agencyespecially when it comes to the question of having children. There is something more, too, running through both books: the terror of choice. How many of us really want to know our likely futures or, even more forebodingly, those of our offspring?

READ:I am mine: This is what Alzheimers is like at 41

For Indiana-born McKay, now a well-known Nova Scotia-based novelist (The Birth House, The Virgin Cure), learning whether she carried the genetic mutation that had shortened her ancestors lives for more than a century was not an easy call. In 2000, after researchers finally detected the specific mutation that applied to our family through my moms DNA, I was one of the earliest to be asked if I wanted to be tested, she says in an interview. McKay, then 32, was slow to take up the offer because to know would be to have this thing that sits in the back of your head and doesnt go awayyou could never go back to being the way you were. Two factors finally sent her to the hospital lab in mid-September 2001, when she was acutely aware of headlines proclaiming Americas new normal in the aftermath of 9/11. One reason to accept her own new normal was my mom saying, Look, you know weve gone down this path for generationsthink about the benefits when doctors can no longer tell you that maybe you only have the flu or that you dont really need a colonoscopy at such a young age. That, and the fact McKay already had two sons. The mutation was known to never reappear once the genetic line of transmission was broken. If McKay was clear, so were her boys. If she was not, I had to know for their sake as well as mine.

What McKay went to find out was whether she had any of the five genetic mutations associated with Lynch syndrome, specifically the one on the MSH2 gene that had ravaged her most direct ancestors and closest relatives. The mutation predisposes a person, early in life, to at least 13 kinds of cancer, from colon to ovarian to brainit brings an 85 per cent chance of colon cancer with an average onset at the age of 49. McKays uncle was diagnosed with cancer at 26, her grandmother at 50, her mother at 58. The syndrome is named after physician Henry Lynch, known as the father of cancer genetics, who picked up the barely flickering torch of cancer syndrome studies from a pioneering pathologist of the early 20th century, Aldred Warthin. But Warthins concept and supporting data came from his seamstress, Pauline GrossMcKays great-great auntwho mentioned to him in 1895 that she expected to die young, like so many in her family. (She did, at 46, from cancer.) Thanks to the detailed family chart Pauline Gross provided to Warthin, the list of known Gross victims dates back to 1856. We are, McKay writes, the longest and most detailed cancer genealogy in the world. For many years, that genealogy was possibly the greatest single factor in keeping alive the notion of heredity in cancer research.

The health records of the Galvins do not stretch as far back as the Grosses, but their family genetics played an even more pivotal research role in an era when mental health professionals were leaning hard into an understanding of schizophrenia as a psychological and not physical disease. The Galvin family, which eventually settled in Colorado Springs, Colo., began expanding in 1945, when U.S. Air Force officer Don Sr. and Mimi had their first child, Don Jr. It didnt stop until 1965, a year after the baby boom itself: 10 boys, followed by two girls.

READ:Why understanding the biology of our minds could cure autism and schizophrenia

Don Jr., a good athlete and average student, who was no trouble at all to his parentsthey ignored the severe beatings he imposed on his younger brothers while growing uphad his first psychotic break before his last sibling was born. His illness became worse at college, and he was soon back in the parental home, separated from his wife. Meanwhile, brother No. 2, James, who also married very young, began hearing voices and attacking his wife. After he had seemingly recovered, the youngest children were often sent to stay with him when Don Jr. made their lives too chaotic or frightening. James began to sexually abuse his sisters, who, as they later revealed, had been somewhat deadened to abuse because brother No. 4, Brian, had already molested them. In 1973, Brian, 22, prescribed antipsychotic drugs, killed his girlfriend and himself. Two years later, 15-year-old Peter, brother No. 10, had a psychotic break shortly after watching his father have a stroke before his eyes; in 1976, it was the turn of Matt, 17, brother No. 9. By late 1978, there were three Galvin boys in different wards of the same state mental hospital.

The last son to be diagnosed, Joe, brother No. 7, had troubled Peters doctors years before while visiting his hospitalized siblings, but he seemedif only relativelyfine to his family. But, after a series of personal losses, he too began being overwhelmed by hallucinations in 1982 at age 25. Joe later told his mother that a family friend, a Catholic priest to whom Don Sr. and Mimi had often entrusted their boys, had molested them, while Mimi revealed to her adult daughtersafter they had confronted her about sending them to Jamesthat she too had been sexually abused as a child, by her stepfather.

In short, the Galvin household offered a horrifically rich mine of potential evidence for any theory of schizophrenias causes. And it did so at a time when psychiatrys nature vs. nurture battle raged on, with many experts still holding to the schizophrenogenic mother explanation. That thesis, articulated by the influential German-American psychiatrist Frieda Fromm-Reichmann in 1948, tormented mid-century parents by blaming the disease on severe early warp and rejection in infancy and childhood, as a rule, mainly from a schizophrenogenic mother. It didnt help that Mimia perfectionist averse to praising her children and secretly troubled by her own traumafit the (false) mother-as-bogeyman profile to a T. But if Mimi herself and the vast set of triggers that might have influenced her sons individual psychoses interested some psychiatrists, the basic Galvin arithmeticsix boys in one familycaptured the attention of researchers seeking a physical cause. By the mid-1980s they had collected blood samples from the Galvins, which soonunbeknownst to the familybecame part of numerous studies.

It was 2016 before the right test offered a breakthrough. Researchers worked with the DNA of only nine families, all of which had to have at least three individuals with schizophrenia and three without. The goal was to find a common genetic mutation, even if it was common only to a particular family, because that abnormality could indicate an overall biochemical pathway to schizophrenia. The study found it in all seven Galvin brothers who had provided blood (two had refused), in the SHANK2 gene, which encodes the proteins that help brain synapses transmit signals. Its not a smoking-gun cause-of-schizophrenia gene, but it does offer the potential pathway the researchers sought, even as it raises this question: why, when its likely all the siblings have that mutation, did some develop serious mental illness and others did not?

READ:What do you do when your wife starts talking to the devil?

In November 2016, after researchers had told the Galvin daughterstheir main points of contact with the familyabout what they had been doing with the family blood for decades and the SHANK2 findings, Margaret Galvin organized what she called a blood-drawing party for non-afflicted family members. These would provide control samples for further research. Shouldve been on Halloween, she joked to author Kolker. Some invitees came, those ready to acknowledge their genetic heritage, and some did not.

The family gatherings, the absent relatives and the fortifying humour are all ties that link the Grosses and the Galvins. These are familiar notes to McKay, who describes her family reunions in terms of everyday organizing: I bring the potato salad, you bring the pecan pie, we talk about cancer. As for those who fear advance knowledge of the future, McKays empathy can be interspersed with anger if children are involved. Likewise, the Galvin daughters investigated the chances of passing their brothers health onto their own children before they became pregnant, and watched those kids like hawks for any indication that early intervention was needed.

McKay still feels the same about knowing the truth for the sake of her children even though her own news did not turn out well: she has the mutation, and so too do both her sons. What matters now, she says, is to draw the key lesson: Do things now, dont waitand dont let this thing define your life.

This article appears in print in the March 2020 issue of Macleans magazine with the headline, Betrayed by their genes. Subscribe to the monthly print magazine here.

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Families betrayed by their own genes - Maclean's

SAN FRANCISCO The three-martini lunch may be on the decline, but many big companies still reward their C-suite with that traditional corporate perk: getting poked and prodded as part of an executive physical that can carry a five-digit price tag.

Now, a Silicon Valley startup wants to reimagine these medical workups by offering a version for a broader audience, one that would run 75 minutes and have patients undergo an MRI scan and genetic analysis, among other testing.

You can pay $20,000 and go to Mayo and spend a weekend there. But thats not ever really going to be scalable, said Jeffrey Kaditz, co-founder and CEO of Q Bio, which announced on Thursday that it raised $40 million from leading Silicon Valley venture capital investors.

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Q Bio is interested in a different question, Kaditz said: What is the most valuable information we can collect about your body, in as short a period of time as possible, as efficiently as possible, and non-invasively as possible?

It will still not be cheap. The price for a yearlong membership to Q Bios service starts at $3,500 out of pocket, with more comprehensive options available for $6,500 and $15,000.

By comparison, major U.S. hospitals offer executive physical packages ranging from $1,700 to $10,000, according to a research letter published in JAMA last year. The most famous of the bunch is the Mayo Clinics executive health program, founded more than four decades ago; its price tag varies based on factors including age and family history. Then theres Human Longevity Inc., the company formerly led by the genomics pioneer Craig Venter, which in 2015 launched an extraordinarily in-depth $25,000 physical.

When people sign up for Q Bios service, the startup asks them to list their health care providers as well as clinics and hospitals where theyve been seen; the company then aggregates and digitizes those records. Two weeks after the exam, the company generates a report based on the results of the MRI as well as testing of blood, urine, and saliva samples.

The report, which can be used by the customers health care providers, surfaces the most important and potentially concerning findings up top. Q Bio wants people to undergo follow-up exams so that changes in their baseline can be tracked over time.

That approach may draw criticism.

Experts say there is not strong evidence that such testing and monitoring offer widespread health benefits, or that it can save the health care system money over time. Theres also the risk of false positives, if something turned up in a medical workup leads to unnecessary and potentially harmful follow-up testing or medical interventions.

Q Bios service stands in contrast to the approach more commonly seen in medicine, in which patients are compared to population distributions and population norms, said Vijay Pande, the general partner at the VC firm Andreessen Horowitz who led Q Bios new Series B funding. That makes sense when you dont have a baseline for yourself, Pande said.

Q Bios approach, on the other hand, recognizes that you can actually be within tolerance of a population norm, but be way out of scope for your personal norm, Pande said. He said hes optimistic that that approach, along with the wide range of measurements the company is collecting, has potential to dramatically minimize false positives.

Kaditz said the company tried to be conservative in deciding which things in the body to monitor, opting to capture only that which could be measured in a reproducible way and would be useful for doctors. For example, Q Bio steered clear of measuring the microbiome. And in contrast to competing medical workups that pitch whole genome sequencing, Q Bio decided to analyze a panel of just 147 genes.

One of Q Bios co-founders is Michael Snyder, a Stanford geneticist who has been an evangelist and a human guinea pig for an approach to precision medicine involving intensive health tracking over time. Last year, Synder and his team reported results from a longitudinal study of 109 people who underwent an initial intensive physical and genetic analysis and then provided blood and other samples every quarter for a number of years. The researchers identified more than 67 clinically actionable health discoveries.

Q Bio, founded in late 2015, came out of stealth mode on Thursday. Kaditz wouldnt say how many people have paid to get exams since the Q Center opened in Silicon Valley late last year, but he said demand from locals and people who have flown in has been so high the company had to create a waiting list.

Kaditz said there have been instances in which executives who have paid for a membership for themselves have proceeded to decide to cover it as a benefit for their C-suite or other employees. He wouldnt say how often thats happened.

With the new funds announced on Thursday, the company plans to open additional Q Centers in other U.S. cities and to invest in trying to line up deals with employers to cover memberships for their employees.

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Silicon Valley startup tries to move executive physicals beyond the C-suite - STAT