Category Archives: Genetic Medicine

Researchers at Washington University School of Medicine in St. Louis have received a five-year $3.2 million grant to study the genetic basis of the musculoskeletal disorder scoliosis, and particularly how it affects African Americans and other underrepresented minorities.

The grant was awarded by the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of Health (NIH).

One of our main interests in studying genetics and scoliosis is to see if there is anything we could uncover to improve the way we treat such patients, said grant co-investigatorChristina A. Gurnett, MD, PhD, the A. Ernest and Jane G. Stein Professor of Developmental Neurology and director of the Division of Pediatric and Developmental Neurology. There is a lack of data regarding underrepresented minorities in particular, including African-Americans. By including individuals from diverse genetic backgrounds, we can improve understanding and treatment of this condition for all members of our community.

About 3 million new cases of scoliosis a disorder that causes the spine to curve in shapes that can look like a C or an S are diagnosed every year in the U.S. The condition generally causes mild problems. However, severe cases can cause joint damage, arthritis, breathing difficulties, and back or pelvic pain. Sometimes it may require a back brace or surgery.

In prior research, Gurnett and other researchers identified genetic risk factors for severe scoliosis. However, it is not yet known whether risk factors are generalizable to diverse patient populations, she said.

The researchers plan to examine 1,000 African American teenagers with idiopathic scoliosis via St. Louis Childrens Hospital, where Gurnett serves as neurologist-in-chief. Idiopathic means the patients have no known health risks that would contribute to scoliosis, which often begins during puberty and can run in families.

Unfortunately, economic and social factors hindering access to health care can cause scoliosis to worsen and become increasingly painful. Health disparities also can increase risk for rare complications of co-occurring conditions including aortic aneurysm and for syringomyelia, a neurological disorder that occurs when a cyst forms in the spinal cord. Both conditions can be serious and life-threatening. However, they may be prevented with early diagnosis and treatment.

In an era of precision medicine, there is an unmet need to change how we treat scoliosis, Gurnett said. However, our ability to interpret genetic data in understudied populations remains limited. The grant will help us to determine whether known risk factors are generalizable to African Americans, and to identify risk variants that can only be identified by studying individuals of African ancestry.

The grant also will support research examining genetic variants in zebrafish models of scoliosis and will assess scoliosis risks in older patients in collaboration with the Geisinger Commonwealth School of Medicine in Scranton, Pa.

Through our studies, we hope to move closer to the goal of precision medicine for scoliosis, Gurnett said.

The other two co-investigators includeSheng Chih (Peter) Jin, a Washington University assistant professor of genetics; and Matthew Dobbs, MD, formerly a Washington University professor of orthopedic surgery, now at the Paley Orthopedic & Spine Institute in West Palm Beach, Fla.

Originally published by the School of Medicine

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Severe scoliosis in African Americans focus of $3.2 million grant | The Source - Washington University in St. Louis Newsroom

-- Sarepta is honored to be recognized for offering a range of benefits and work-life resources to employees and supporting the local community --

-- Rankings based on confidential survey information submitted by employees to independent research company --

CAMBRIDGE, Mass., Nov. 20, 2020 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, announced today that it has been named one of TheBoston Globes Top Places to Work in 2020 in the large company category.

The Boston Globes 2020 list recognizes 150 companies and organizations in Massachusetts based on surveys completed by their employees about the workplace, including 40 in the large company category. The survey measured opinions about company direction, execution, connection, management, work, pay and benefits, and engagement. Companies also provided supplemental information about responses to the global pandemic and changes implemented in how teams work.

This recognition reflects the quality of the Sarepta employees, who together have built a positive culture, navigated a challenging environment this year and, both at facilities and from home, remained focused on our daily race to save lives stolen or impacted by rare disease, said Doug Ingram, president and CEO, Sarepta. It is a testament to the resilience, tenacity and commitment of those who work at Sarepta.

Sarepta is committed to engineering precision genetic medicine to reclaim futures otherwise impacted or cut short by ushering in a new era of drug development, with the goal of shortening the time from lab to patient. The Company is building among the worlds largest gene therapy manufacturing capacity, and rethinking access and reimbursement models for revolutionary new treatments. Sareptas purpose-driven culture, where patient-focus is central to the values that shape how work is done, was resoundingly echoed by its people as a key attribute that contributed to its top ranking. Additionally, Sarepta fosters an environment that encourages its people to bring their whole selves to work and share ideas that support the entire workforce and the patient community it serves.

As the Company adjusted during the pandemic, several initiatives and new benefits were implemented as a result of employee feedback:

At Sarepta, a vision for the possibilities of pioneering science to redefine the future of medicine, and advance treatment options for patients, is shared by all. Individuals who are inspired by the opportunity to toss aside convention and break down barriers to radically change the future of medicine are encouraged to explore employment opportunities at http://www.sarepta.com.

About Sarepta TherapeuticsAt Sarepta, we are leading a revolution in precision genetic medicine and every day is an opportunity to change the lives of people living with rare disease. The Company has built an impressive position in Duchenne muscular dystrophy (DMD) and in gene therapies for limb-girdle muscular dystrophies (LGMDs), mucopolysaccharidosis type IIIA, Charcot-Marie-Tooth (CMT), and other CNS-related disorders, with more than 40 programs in various stages of development. The Companys programs and research focus span several therapeutic modalities, including RNA, gene therapy and gene editing. For more information, please visitwww.sarepta.comor follow us onTwitter,LinkedIn,InstagramandFacebook.

Source:Sarepta Therapeutics, Inc.

Media and Investors:Sarepta Therapeutics, Inc. Investors: Ian Estepan, 617-274-4052, iestepan@sarepta.com Media: Tracy Sorrentino, 617-301-8566, tsorrentino@sarepta.com

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Sarepta Therapeutics Named One of The Boston Globe's Top Places to Work 2020 - GlobeNewswire

At least three coronavirus vaccines are on the horizon, but some Americans appear hesitant to be first in line to take them.

As the likely distribution of COVID-19 vaccines draws near, researchers say its time to begin educating Americans about medical research and the vaccine, with a focus on building trust particularly in communities that experience higher levels of distrust.

A September survey conducted by the Pew Research Center found that just 51% of U.S. adults said they would definitely or probably get a COVID-19 vaccine if it were available the day they took the survey.

What makes people hesitant? Theyre not sure it will work. Sometimes its about side effects. They want to know that it is indeed going to protect them, and thats a message that we need to make sure we get out there, said Kenzie Cameron, a research professor in general internal medicine and geriatrics at Northwestern Medicine. Cameron is a health services researcher with a background that includes health communication, and has studied racial and ethnic disparities in the flu vaccine.

Vaccine skepticism is highest among Black Americans a community that sees historic mistrust in the American medical system and its record of experimenting on Black people.

Dating back to the Tuskegee experiment that was supposed to be a six-month experiment and it lasted 40 years and with the Henrietta Lacks research study that happened in 1951. Because of these long-standing issues, African Americans, they do not trust, said Tonya Roberson, a community psychologist and the director of community engagement, program development and academic support at Governors State University in the college of health and human services.

They feel like the government leadership is not doing what they should do to help or to protect Americans, especially minorities, and current evidence of racial disparities in health care also cause mistrust, she said.

Among Black adults, 32% said they would definitely or probably get a COVID-19 vaccine, according to the Pew Research survey in September. That figure was higher for respondents who were White (52%), Hispanic (56%) and Asian (72%).

Because mistrust in the medical system and vaccines has built over time, Cameron says rebuilding it wont happen overnight, and it should start at the individual level between patients and their nurses and physicians.

There can be very significant distrust in institutions and systems, especially when we are seeing more and more this institutional and structural racism that was there all along, she said. The trust needs to happen between individuals.

Some vaccine trials paused research earlier this fall because they hadnt enrolled enough people of color. Roberson said the danger of not having diverse participants in a trial is that the vaccine may not work on everyone.

There are environmental and genetic reasons that the vaccine drug needs to be tested on these different races so they can be accurately represented African Americans are physically different from other nationalities. Our veins are smaller and our cancer masses are more dense, Roberson said. Her background includes public health and biomedical and social science research. She has a particular expertise in culturally tailoring research methods to address health and racial inequities.

The Black community has been among the communities most impacted by COVID-19. As of Monday, Black residents in Chicago made up 18% of total confirmed coronavirus cases and 41% of total deaths, city data show.

A survey released Monday found that among Black and Latino Americans, safety and effectiveness were key in deciding to get vaccinated. The survey, which was conducted at the beginning of September, found that just 14% of Black respondents said they trust that a vaccine will be safe, and 18% said they trusted a vaccine would be effective. For Latino Americans, those figures were 34% and 40%, respectively.

The survey authors said the responses show the building trust on vaccine safety and effectiveness will be vital.

Roberson is working to educate community members in South Chicago and the south suburbs about medical research and vaccines, where concerns range from not wanting to be part of a medical experiment to not trusting government leadership the same issues of mistrust surrounding the flu vaccine, Roberson said.

Rebuilding trust requires listening to patient concerns and questions, Cameron said.

A lot of times what happens in public health and in messaging is we assume we know what you want to hear, and Im going to tell you that, Cameron said. But thats not enough. I need to find out from you what your specific concern is.

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With Coronavirus Vaccines on The Way, Researchers Say It's Time to Build Trust - WTTW News

BEDFORD, Mass.--(BUSINESS WIRE)--Stoke Therapeutics, Inc. (Nasdaq: STOK), a biotechnology company pioneering a new way to treat the underlying cause of genetic diseases by precisely upregulating protein expression, today announced that four abstracts related to the Companys work in Dravet syndrome have been selected for presentation at the upcoming American Epilepsy Society (AES) 2020 Virtual Annual Meeting, taking place December 4 8, 2020. Dravet syndrome is a severe and progressive genetic epilepsy characterized by frequent, prolonged and refractory seizures that usually begin within the first year of life. The disease is classified as a developmental and epileptic encephalopathy due to the developmental delays and cognitive impairment associated with the disease.

Highlights from the Companys presentations include:

Our understanding of the diagnosis, progression and effects of Dravet syndrome continues to expand and everything we are learning reinforces the urgent need for a medicine that treats the underlying cause of the disease, said Barry Ticho, M.D., Ph.D., Chief Medical Officer of Stoke Therapeutics. The data from our BUTTERFLY study give us a strong foundational understanding of the course of the disease and validate the applicability of several measures of cognition and other non-seizure comorbidities that will be helpful in evaluating potential disease-modifying medicines like STK-001.

Details for the AES presentations are as follows:

Title: Observational Study to Investigate Cognition and Other Non-seizure Comorbidities in Children and Adolescents with Dravet Syndrome: Patient Analysis of the BUTTERFLY StudySession Date & Time: Available on-demand December 4Presenter: Joseph Sullivan, M.D., Professor of Neurology at the University of California San Francisco and Director of the Benioff Childrens Hospital Pediatric Epilepsy Center of ExcellenceAbstract Number: 81

Title: Reducing the Time to Diagnosis and Increasing the Detection of Individuals with SCN1A-Related Disease Through a No-cost, Sponsored Epilepsy Genetic Testing ProgramSession Date & Time: Available on-demand December 4Presenter: Dianalee McKnight,Ph.D., Director, Medical Affairs, InvitaeAbstract Number: 392

Title: Safety and Pharmacokinetics of Antisense Oligonucleotide STK-001 in Children and Adolescents with Dravet Syndrome: Single Ascending Dose Design for the Open-Label Phase 1/2a MONARCH StudySession Date & Time: Available on-demand December 4Presenter: Linda Laux, M.D, Associate Professor of Pediatrics (Neurology and Epilepsy) at Northwestern University Feinberg School of Medicine and Attending Physician, Neurology and Epilepsy Center, Ann & Robert H. Lurie Children's Hospital of ChicagoAbstract Number: 344

Title: Targeted Augmentation of Nuclear Gene Output (TANGO) of SCN1A Reduces Seizures and Rescues Parvalbumin Positive Interneuron Firing Frequency in a Mouse Model of Dravet SyndromeSession Date & Time: Available on-demand December 4Presenter: Eric Wengert, Researcher, Department of Anesthesiology, University of VirginiaAbstract Number: 236

About STK-001

STK-001 is an investigational new medicine for the treatment of Dravet syndrome currently being evaluated in a Phase 1/2a clinical trial. Stoke believes that STK-001, a proprietary antisense oligonucleotide (ASO), has the potential to be the first disease-modifying therapy to address the genetic cause of Dravet syndrome. STK-001 is designed to upregulate NaV1.1 protein expression by leveraging the non-mutant (wild-type) copy of the SCN1A gene to restore physiological NaV1.1 levels, thereby reducing both occurrence of seizures and significant non-seizure comorbidities. Stoke has generated preclinical data demonstrating proof-of-mechanism and proof-of-concept for STK-001. STK-001 has been granted orphan drug designation by the FDA as a potential new treatment for Dravet syndrome.

About Phase 1/2a Clinical Study (MONARCH)

The MONARCH study is a Phase 1/2a open-label study of children and adolescents ages 2 to 18 who have an established diagnosis of Dravet syndrome and have evidence of a pathogenic genetic mutation in the SCN1A gene. The primary objectives for the study will be to assess the safety and tolerability of STK-001, as well as to characterize human pharmacokinetics. A secondary objective will be to assess the efficacy as an adjunctive antiepileptic treatment with respect to the percentage change from baseline in convulsive seizure frequency over a 12-week treatment period. Stoke also intends to measure non-seizure aspects of the disease, such as quality of life, as secondary endpoints. Enrollment and dosing are ongoing in MONARCH and Stoke plans to enroll approximately 48 patients in the study across 20 sites in the United States.

Additional information about the MONARCH study can be found at https://www.monarchstudy.com/.

About Dravet Syndrome

Dravet syndrome is a severe and progressive genetic epilepsy characterized by frequent, prolonged and refractory seizures, beginning within the first year of life. Dravet syndrome is difficult to treat and has a poor long-term prognosis. Complications of the disease often contribute to a poor quality of life for patients and their caregivers. The effects of the disease go beyond seizures and often include severe intellectual disabilities, severe developmental disabilities, motor impairment, speech impairment, autism, behavioral difficulties and sleep abnormalities. Compared with the general epilepsy population, people living with Dravet syndrome have a higher risk of sudden unexpected death in epilepsy, or SUDEP. Dravet syndrome affects approximately 35,000 people in the United States, Canada, Japan, Germany, France and the United Kingdom, and it is not concentrated in a particular geographic area or ethnic group.

About Stoke Therapeutics

Stoke Therapeutics (Nasdaq: STOK) is a clinical-stage biotechnology company pioneering a new way to treat the underlying causes of severe genetic diseases by precisely upregulating protein expression to restore target proteins to near normal levels. Stoke aims to develop the first precision medicine platform to target the underlying cause of a broad spectrum of genetic diseases in which the patient has one healthy copy of a gene and one mutated copy that fails to produce a protein essential to health. These diseases, in which loss of approximately 50% of normal protein expression causes disease, are called autosomal dominant haploinsufficiencies. Stoke is headquartered in Bedford, Massachusetts with offices in Cambridge, Massachusetts. For more information, visit https://www.stoketherapeutics.com/ or follow the company on Twitter at @StokeTx.

Cautionary Note Regarding Forward-Looking Statements

This press release contains forward-looking statements within the meaning of the safe harbor provisions of the Private Securities Litigation Reform Act of 1995, including, but not limited to: preclinical data and study results regarding OPA1, future operating results, financial position and liquidity, the direct and indirect impact of COVID-19 on our business, financial condition and operations, including on our expenses, supply chain, strategic partners, research and development costs, clinical trials and employees; our expectation about timing and execution of anticipated milestones, responses to regulatory authorities, expected nomination of future product candidates and timing thereof, our ability to complete lead optimization of ASOs for ADOA, the timing and results of ADOA preclinical studies, our ability to develop ASOs treat the underlying causes of ADOA, our ability to advance OPA1 as our next preclinical target, and our ability to use study data to advance the development of STK-001; the ability of STK-001 to treat the underlying causes of Dravet syndrome; and the ability of TANGO to design medicines to increase protein production and the expected benefits thereof. These forward-looking statements may be accompanied by such words as aim, anticipate, believe, could, estimate, expect, forecast, goal, intend, may, might, plan, potential, possible, will, would, and other words and terms of similar meaning. These forward-looking statements involve risks and uncertainties, as well as assumptions, which, if they do not fully materialize or prove incorrect, could cause our results to differ materially from those expressed or implied by such forward-looking statements. These statements involve risks and uncertainties that could cause actual results to differ materially from those reflected in such statements, including: our ability to develop, obtain regulatory approval for and commercialize STK-001, OPA1 and future product candidates; the timing and results of preclinical studies and clinical trials; the risk that positive results in a clinical trial may not be replicated in subsequent trials or success in early stage clinical trials may not be predictive of results in later stage clinical trials; risks associated with clinical trials, including our ability to adequately manage clinical activities, unexpected concerns that may arise from additional data or analysis obtained during clinical trials, regulatory authorities may require additional information or further studies, or may fail to approve or may delay approval of our drug candidates; the occurrence of adverse safety events; failure to protect and enforce our intellectual property, and other proprietary rights; failure to successfully execute or realize the anticipated benefits of our strategic and growth initiatives; risks relating to technology failures or breaches; our dependence on collaborators and other third parties for the development, regulatory approval, and commercialization of products and other aspects of our business, which are outside of our full control; risks associated with current and potential delays, work stoppages, or supply chain disruptions caused by the coronavirus pandemic; risks associated with current and potential future healthcare reforms; risks relating to attracting and retaining key personnel; failure to comply with legal and regulatory requirements; risks relating to access to capital and credit markets; environmental risks; risks relating to the use of social media for our business; and the other risks and uncertainties that are described in the Risk Factors section of our most recent annual or quarterly report and in other reports we have filed with the U.S. Securities and Exchange Commission. These statements are based on our current beliefs and expectations and speak only as of the date of this press release. We do not undertake any obligation to publicly update any forward-looking statements.

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Stoke Therapeutics Announces Presentations Related to the Company's Work in Dravet Syndrome at the American Epilepsy Society 2020 Virtual Annual...

Newswise (New York, NY November 24, 2020) -- Researchers from Mount Sinai and the National Center for Geriatrics and Gerontology in Japan have identified new molecular mechanisms driving late-onset Alzheimers Disease (LOAD), as well as a promising therapeutic candidate for treatment, according to a study in the journal Neuron. LOAD is the most prevalent form of dementia among people over age 65, a progressive and irreversible brain disorder affecting more than 5.5 million people in the U.S., and the sixth leading cause of death.

Our study advances the understanding of LOAD pathogenesis by revealing not only its global structures, but detailed circuits of complex molecular interactions and regulations in key brain regions affected by LOAD, said the lead author Bin Zhang, PhD, Professor of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai and Director of the Center for Transformative Disease Modeling. The network models we created serve as a blueprint for identifying novel therapeutic targets that respond directly to the urgent need for new ways to prevent, treat, and delay the onset of LOAD.

Previous genetic and genome-wide association studies (GWAS) have identified some genetic mutations associated with LOAD, but the causal variants of the disease have remained uncharacterized. To explore the molecular mechanisms driving the pathogenesis of LOAD, the Mount Sinai-led team performed an integrative network biology analysis of a whole genome and RNA sequencing dataset from multiple cortical brain regions of hundreds of donors, both healthy and with LOAD. This work revealed thousands of molecular changes and uncovered numerous neuron-specific gene subnetworks dysregulated in LOAD.

From that investigation researchers predicted that ATP6V1A, a protein-coding gene, plays a major role in a critical signaling pathway in the brain, and that its deficit could be traced to LOAD. That linkage was evaluated using two methods: a CRISPR-based technique to manipulate ATP6V1A levels in donor-matched brain cells in vitro, and in RNAi-based knockdown in transgenic Drosophila models, meaning that genetic material is artificially introduced into fly models and specific genes are effectively silenced to study the effects. Indeed, the knockdown of ATP6V1A worsened LOAD-related neurodegeneration in both models.

Just as significantly, researchers predicted that a drug compound, NCH-51, could normalize the dysregulated genes in LOAD, including ATP6V1A, and demonstrated that NCH-51 dramatically improved the neuronal and neurodegenerative effects of the ATP6V1A deficit in both model systems. Specifically, the CRISPR-based experiment using human induced pluripotent stem cells (hiPSC) demonstrated that repression of ATP6V1A, particularly in combination with -amyloid -- a key neuropathological hallmark of AD -- dramatically impacted neuronal function. The human-based system we created proved to be a promising way to model the mechanisms underlying risk and progression in diseases like LOAD where living tissues are not available, observed Kristen Brennand, PhD, Associate Professor, Genetics and Genomic Sciences, Mount Sinai, and co-author of the study.

The Drosophila experiments were also revealing, demonstrating that ATP6V1A deficit exacerbated both -amyloid-mediated toxicity and tau-mediated axon degeneration. This finding suggests that ATP6V1A may have broad neuroprotective effects and serve as a potential therapeutic target for other tau-related neurodegenerative diseases, says Dr. Koichi M. Iijima, Head of the Department of Alzheimers Disease Research at the National Center for Geriatrics and Gerontology in Japan, and senior author of the study.

As Dr. Zhang points out, the groundbreaking research by Mount Sinai and its Japanese partner could have significance beyond just LOAD. Weve created a framework for advanced modeling of complex human diseases in general, he explains, and that could well lead to the discovery of molecular mechanisms and the identification of novel targets that are able to deliver transformative new therapeutics.

The LOAD study is supported by the NIH National Institute on Aging (NIA) and is part of the NIA-led Accelerating Medicines Partnership - Alzheimer's Disease (AMP-AD) Target Discovery and Preclinical Validation program. This public private partnership aims to shorten the time between the discovery of potential drug targets and the development of new drugs for Alzheimers disease treatment and prevention.

About the Mount Sinai Health System

The Mount Sinai Health System is New York City's largest academic medical system, encompassing eight hospitals, a leading medical school, and a vast network of ambulatory practices throughout the greater New York region. Mount Sinai is a national and international source of unrivaled education, translational research and discovery, and collaborative clinical leadership ensuring that we deliver the highest quality carefrom prevention to treatment of the most serious and complex human diseases. The Health System includes more than 7,200 physicians and features a robust and continually expanding network of multispecialty services, including more than 400 ambulatory practice locations throughout the five boroughs of New York City, Westchester, and Long Island. The Mount Sinai Hospital is ranked No. 14 onU.S. News & World Report's"Honor Roll" of the Top 20 Best Hospitals in the country and the Icahn School of Medicine as one of the Top 20 Best Medical Schools in country. Mount Sinai Health System hospitals are consistently ranked regionally by specialty and our physicians in the top 1% of all physicians nationally byU.S. News & World Report.

For more information, visithttps://www.mountsinai.orgor find Mount Sinai onFacebook,TwitterandYouTube.

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Potential New Therapies for Alzheimers Disease are Revealed through Network Modeling of Its Complex Molecular Interactions - Newswise

The Twins Study gave us a first sketch of the human bodys molecular responses to spaceflight, but these outlines needed to be filled in, says Christopher Mason, an associate professor of physiology and biophysics at Weill Cornell Medicine. The changes we saw needed more context and replication. We needed additional studies to map out the frequency of the changes we observed in other astronauts, and other organisms, that go into space, and also to see if the degree of change was similar for shorter missions.

That brings us to a new package of research that builds on the Twins Study, reanalyzing some of the original data with new techniques and providing comparisons with other astronauts. In a set of 19 studies published today in a slew of different journals (along with 10 preprints still under peer review), researchers like Mason (a senior author on 14 of the papers) studied the physiological, biochemical, and genetic changes that occurred in 56 astronauts (including Kelly) who have spent time in spacethe largest study of its kind ever conducted.

The new papers, which incorporate results from cell-profiling and gene-sequencing techniques that have become easier to run only recently, reveal that there are some features of spaceflight that consistently appear in humans, mice, and other animals when they go to space, says Mason. There appears to be a core mammalian set of adaptations and responses to the rigors of spaceflight.

The researchers highlightsix biological changesthat occur in all astronauts during spaceflight: oxidative stress (an excessive accumulation of free radicals in the bodys cells), DNA damage, dysfunction of the mitochondria, changes in gene regulation, alterations in the length of telomeres (the ends of chromosomes, which shorten with age), and changes in the gut microbiome.

Of these six changes, the biggest and most surprising one for scientists wasmitochondrial dysfunction. Mitochondria play a critical role in producing the chemical energy necessary to keep cellsand by extension, tissue and organsfunctional. Researchers found irregular mitochondrial performance in dozens of astronauts and were able to broadly characterize these changes thanks to new genomics and proteomics techniques. Afshin Beheshti, a bioinformatician at NASA and senior author of one study, says mitochondrial suppression helps explain how many of the problems astronauts experienced (like immune system deficiencies, disrupted circadian rhythm, and organ complications) are actually holistically related to each other, since they all rely on the same metabolic pathways.

When youre in space, its not just one are or organ thats affected, its the whole body thats affected, says Beheshti. "We started connecting the dots."

Other research homed in on problems observed at the genetic level. The Twins Study showed that Kellys telomeres got longer in space before shrinking back to normal or even shorter lengths soon after he returned to Earth. Telomeres are supposed to shorten with age, so lengthening makes little sense, and the Twins Study didnt provide enough data to prompt any real conclusions as to why it happened and what the effects were.

Susan Bailey, a Colorado State University expert on telomere research and a senior author for several of the papers, says the new research found that 10 other astronautsexperienced the same telomere lengthening Kelly did irrespective of mission durationas well as the same telomere shrinking once they came back to Earth.

Notably, one of the papers in the new package found that longer telomeres were also associated with climbers of Mount Everest. For Bailey and her colleagues, this suggests that telomere lengthening isaffected by oxidative stresssomething that climbers and astronauts both experience, and that disrupts proper telomere maintenance.

NASA

They are still trying to pinpoint how these pathways work and exactly what the consequences could be (its probably not a secret to longevity), but we now have a foundation to build onwe know what to look for and be aware of in future astronauts on long-duration [and deep space] exploration missions, she says.

Though some of the changes are unexpected, many are no cause for concern. What is amazing to me is how well we adapt to space, says Jeffrey Sutton, director of the Baylor College of Medicines Center for Space Medicine, who was not involved with the new research.Blood cell mutations decreased in Kelly while he was in space(a total surprise for Mason). Astronauts also exhibiteddecreased levels of biomarkers associated with agingandincreased levels of microRNAsthat regulate the vascular systems response to radiation damage and microgravity. One of the strangest findings was that astronauts gut microbiomes managed to bring space microbes found on the ISS back to Earth.

The studies individually and collectively are truly impressive, says Sutton. We have entered a new era of space biomedical research, where the approaches and tools of precision and translational medicine are being applied to advance our understanding of human adaptation to space.

Ultimately, however, the data highlights just how much havoc and stress even the healthiest bodies face during space missionswhich should have an impact on planning for longer missions. I dont think were close to sending untrained people into space for really long periods of time, says Scott Kelly.

Physiologically, he thinks its probably safe to send people to Mars and back. In the distant future, however, instead of going to Mars, were going to be going to the moons of Jupiter or Saturn, he says. Youre going to be in space for years. And at that point, well have to take a closer look at artificial gravity as a mitigation. I wouldnt want to be arriving on the surface of another planetary body and not be able to function. A year or so is workable. Several years probably isnt.

NASA

Were still far away from having to evaluate those kinds of risks. Mason and his colleagues suggest that there should be pharmacological strategies for reducing the impact of gravity on the bodies of returning astronauts.

Sutton believesprecision medicinecould play a huge role in tailoring those drugs to protect astronauts against the effects of microgravity and radiation. And the shared biological responses between astronauts and Mount Everest climbers suggest that some interventions used to protect extreme sports athletes from oxidative stress could be applied to astronauts too.

What we need is more dataand more populations to use for comparison. Mason, Bailey, and their colleagues are starting to collect cell and gene profiles of more astronauts, especially those going on future year-long missions. They also want to study people whove experienced other conditions similar in some way to spaceflight, such as radiotherapy patients, pilots, and flight attendants.

The more we know about the health effects of long-duration spaceflight, the better able we will be to help maintain the health and performance of astronauts during and after spaceflight, says Bailey. Such knowledge benefits those of us on Earth as wellwe are all concerned about getting older, and being in poor health.

This post has been updated with comments from Afshin Beheshti.

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Spaceflight does some weird things to astronauts bodies - MIT Technology Review