MCLEAN, Va., Oct. 1, 2021 /PRNewswire-PRWeb/ --The Multiple System Atrophy ("MSA") Coalition announces a ground-breaking million-dollar multi-year collaborative project focused on exploring the genetics of up to 1,200 people with either a diagnosis of probable MSA, in the case of living patients, or postmortem pathological confirmation of multiple system atrophy, aimed at locating commonalities in their genes that might contribute to the development of multiple system atrophy. The aim of this collaborative study is to sequence and organize the genomes of existing genetic samples as well as to organize previously sequenced whole-genome data into a single database that is accessible to researchers worldwide. While many researchers have looked at the genetics of MSA, this will be the first time such a large number of genomes from ethnically diverse populations have been sequenced and organized in such a way as to facilitate thorough analysis and collaborative enterprise.
"MSA is not typically passed from parent to child, except in extremely rare cases. However, there are still important clues about the underlying cause of MSA that can be found by examining the genetic code of a large population of MSA patients and looking for commonalities. Because MSA is a such a rare disease, there is a need for multiple researchers to work together and pool their data. Until now there has not been a concerted effort among genetic labs to combine these rare genetic samples from MSA patients with diverse backgrounds into a large, shared database," said Pam Bower, chair of the MSA Coalition's research committee. "The MSA Coalition is proud to be the driver of this ground-breaking study."
University of Florida will perform genetic sequencing under the direction of Matt Farrer, PhD, while storage, analysis and visualization of data will occur at Harvard Medical School in the Clinical Genome Analysis Platform ("CGAP") under the direction of Dana Vuzman, PhD. Additional genomic information will be provided by University College of London, Queen Square Institute of Neurology under the direction of Henry Houlden, MBBS, MRCP, PhD; by Translational Genomics Research Institute (TGen) under the direction of Matt Huentelman, PhD (Funded in part by the Rex Griswold Foundation, a grant from the NIH NINDS (R21-NS093222, PI: Huentelman), and through institutional support of TGen.); and by Seoul National University, under the direction of Beomseok Jeon, MD, PhD and Han-Joon Kim, MD, PhD. The Core G team also plans to coordinate their work with that being done at NIH under the direction of Sonja Scholz, MD, PhD. The group, collectively known as "Core G" (Genetics), will work closely with Vik Khurana, MD, PhD, board member and Scientific Liaison of the Board of Directors of the MSA Coalition and Chief of the Movement Disorders Division at Brigham and Women's Hospital and Harvard Medical School. Dr. Khurana will endeavor to integrate Core G team-member efforts more broadly into the MSA Collaborative Cores Initiative sponsored by the Coalition that will seed fund additional projects over time.
"I am thrilled that after years of planning and deliberation that Core G is funded and ready to go," said Khurana. "This group of terrific researchers, together with their expertise, bring precious patient samples from three continents to establish a foundation upon which other collaborations and initiatives will be built. We are under no illusion that the genetics of MSA will prove challenging, no less than a moonshot. At the same time, genetic insights promise to unlock powerful hypothesis-driven science that can find cures. And so, this moonshot is worth the effort and has been structured to be collaborative, open and sustainable in the long-term."
"We are incredibly proud of assembling this group of world-renowned researchers to collaborate on this project. It has taken almost three years to organize this project and obtain consents from all the institutions involved. Great care has been taken by all contributing institutions to safeguard the privacy of the patients and anonymize the genetic materials, so that patient privacy is protected," said Cynthia Roemer, MSA Coalition board chair. "We are also grateful to our many donors, who have made this project possible, and to the patients we have lost to MSA who generously left bequests to the MSA Coalition to further critical research like this. We quite literally could not do it without them!"
Dana Vuzman, PhD is an Instructor of Medicine at Harvard Medical School and the Director of Genomic Platform Development at DBMI. Dr. Vuzman oversees the implementation of the Clinical Genome Analysis Platform (CGAP) and the Single Cell RNA Platform in the Department. Prior to joining DBMI, she served as Chief Informatics Officer at One Brave Idea, Sr. Director of Biomedical Informatics at KEW, Inc., and Co-Director at Brigham Genomic Medicine. Dr. Vuzman earned her PhD in Computational Biology from the Weizmann Institute of Science in Israel and completed her postdoctoral training in Computational Genetics at Brigham and Women's Hospital and Harvard Medical School.
Matt Farrer, PhD is critically acclaimed for his work in the genetics and neuroscience of Parkinson's disease. His inspiration to apply genetic analysis to complex neurologic disorders came from early work as a care assistant of patients and families with neurologic and psychiatric disorders. Dr. Farrer earned his first degree in Biochemistry with a Doctoral degree in Molecular and Statistical Genetics from St. Mary's Hospital Medical School, UK. He completed a fellowship in Medical Genetics at the Kennedy-Galton Centre, UK and in Neurogenetics at Mayo Clinic. Dr. Farrer became an Assistant Professor of Molecular Neuroscience in 2000 where he opened his first laboratory to predict and prevent Parkinson's disease. Dr. Farrer became a tenured professor in 2006, a Mayo Consultant, and subsequently, a Distinguished Mayo Investigator. In 2010, Dr. Farrer was awarded a Canada Excellence Research Chair to build the Centre for Applied Neurogenetics and Neuroscience at the University of British Columbia, Vancouver, Canada where he became a Professor of Medical Genetics. The Province of British Columbia subsequently awarded him the Don Rix Chair in Precision Medicine, and his team had many notable accomplishments including several new genes and mouse models for Parkinson's disease. The team also implemented high-throughput sequencing in pediatric seizure disorders and neonatology in clinical service. The former was funded through the Medical Services Plan of British Columbia and was a first for Canada.
In 2019, Dr. Farrer accepted an endowed chair at the Norman Fixel Institute for Neurological Diseases (thanks to a generous endowment from the Lauren and Lee Fixel Family Foundation). Dr. Matt Farrer also directs the UF Clinical Genomics Program. As such he currently has appointments and affiliations in the UF College of Medicine's Neurology and Pathology Departments, Clinical and Translational Science Institute, the Evelyn F. and William L. McKnight Brain Institute, the Center for Translational Research in Neurodegenerative Disease, and the Center for Neurogenetic in addition to the Norman Fixel Institute for Neurological Diseases.
Henry Houlden, MBBS, MRCP, PhD: Dr. Houlden is a professor of neurology and neurogenetics in the Department of Neuromuscular Disease, University College, London, Queen Square Institute of Neurology, and undertakes research laboratory works on neurogenetics and movement disorders with a particular interest in rare diseases that are adult or childhood-onset, such as multiple system atrophy (MSA), spinocerebellar ataxia and other movement disorders, inherited neuromuscular conditions, and difficult to diagnose disorders, particularly in diverse and underrepresented populations. He assists with the integration of new gene discovery with exome and genome sequencing identifying disease genes such as CANVAS, NARS1, NKX-6.2, SCA11, SCA15, GRIA2, and GAD1, with functional experimental validation in human tissue and other model systems. Dr. Houlden has clinical expertise in inherited neurological disorders and movement disorders such as multiple system atrophy, ataxia, leukodystrophy, epilepsy and paroxysmal conditions, spastic paraplegia and neuromuscular conditions.
Matt Huentelman, PhD: Dr. Huentelman's research interests center around the investigation of the "-omics" (genomics, transcriptomics, and proteomics) of neurological traits and disease. His laboratory's overarching goal is to leverage findings in these disciplines to better understand, diagnose, and treat human diseases of the nervous system.
Dr. Huentelman joined TGen in July of 2004 after completing his doctoral work at the University of Florida's Department of Physiology and Functional Genomics at the McKnight Brain Institute where he investigated the application of gene therapy in the study and prevention of hypertension. His undergraduate degree is in Biochemistry from Ohio University's Department of Chemistry and Biochemistry at Clippinger Laboratories. Dr. Huentelman's career includes visiting researcher stints in Moscow, Russia at the MV Lomonosov Moscow State University "Biology Faculty" and in the United Kingdom within the University of Bristol's Department of Physiology.
Beomseok Jeon, MD, PhD: Professor Jeon is the medical director of the Movement Disorder Center, Seoul National University Hospital and is interested in genetics of Parkinsonism and medical and surgical treatment of advanced Parkinson's Disease.
Dr. Jeon earned his undergraduate, MD and PhD degrees from Seoul National University. His clinical interests include Parkinson's disease and other movement disorders including tremor, ataxia, dystonia, and chorea. His research focuses on the role of genetics in movement disorders, especially in the Korean population. He has established a DNA bank of thousands of Korean patients with movement disorders and normal controls. He is also involved in treatment of advanced Parkinson disease, and works with neurosurgical colleagues for various surgical treatment.
Han-Joon Kim, MD, PhD: Dr. Kim is a Professor in the Department of Neurology and the Movement Disorder Center at Seoul National University Hospital, Seoul, Korea. After graduation from the Medical College of Seoul National University in 1997, Dr. Kim took an internship and residency in neurology at Seoul National University Hospital (SNUH) where he became a Movement Disorder Specialist.
Clinically, Dr. Kim has experience with patients with various movement disorders including Parkinson's Disease (PD), Multiple System Atrophy (MSA), other atypical Parkinsonisms, and ataxias. Notably, Dr. Kim has set up a large registry of Korean MSA patients, which will serve as a basis for both observational and interventional studies in this rare disease.
Sonja W. Scholz, MD, PhD: Dr. Scholz is a Neurologist and Neurogeneticist specialized in movement and cognitive disorders. She received her medical degree from the Medical University Innsbruck, Austria. Following graduation, she was a post-doctoral fellow at the Laboratory of Neurogenetics at the NIH's National Institute on Aging (NIA) under the supervision of Drs. Andrew Singleton and John Hardy. She obtained a Ph.D. in Neurogenomics from the University College London, UK in 2010. She then moved to Baltimore to complete her neurology residency training at Johns Hopkins. In 2015, Dr. Scholz received the McFarland Transition to Independence Award for Neurologist-Scientists. She is a Lasker Clinical Research Tenure Track Investigator within the Neurogenetics Branch at the NIH's National Institute of Neurological Disorders and Stroke (NINDS). Her laboratory focuses on identifying genetic causes of neurodegenerative diseases, such as dementia with Lewy bodies, multiple system atrophy, and frontotemporal dementia.
Media Contact
Moriah Meeks, MSA Coalition, +1 (312) 270-0171, mmeeks@staff.msacoalition.org
SOURCE MSA Coalition
- Mating Study Unlocks the Genetic Code of Attraction - Neuroscience News - March 18th, 2024
- Mindfulness in your DNA? Capacity to be present is partly a function of genetics, study finds - PsyPost - March 18th, 2024
- Genetic testing scam targets Medicare recipients, including those in Spokane - KXLY Spokane - March 18th, 2024
- Some people are genetically predisposed to gain weight. These 5 tips can help - CNN - March 18th, 2024
- SOPHiA GENETICS and The French Kidney Cancer Research Network (UroCCR) Publish Results from Multiyear ... - PR Newswire - March 18th, 2024
- Tissue samples show the deep genetic and cellular impacts of smoking - Medical Xpress - March 18th, 2024
- The regulatory landscape of chromatin accessibility - Nature.com - March 18th, 2024
- Genome assemblies of 11 bamboo species highlight diversification induced by dynamic subgenome dominance - Nature.com - March 18th, 2024
- Research reveals the genetic code behind non-identical twins - Medical Xpress - March 18th, 2024
- How genetic therapies transformed the lives of sickle cell patients - KPVI News 6 - March 18th, 2024
- The Next Wave of Privacy Litigation: The Illinois Genetic Information Privacy Act - Perkins Coie - March 18th, 2024
- State initiates study on genetic cancers, Lynch Syndrome - The Times of India - March 18th, 2024
- How genetic therapies transformed the lives of sickle cell patients - Citizentribune - March 18th, 2024
- Dr Plichta on Areas of Interest for Genetic Testing Research in Breast Cancer - OncLive - March 18th, 2024
- The Genetic History of the Jews Mosaic - Mosaic - March 18th, 2024
- New insights into genetic mechanisms could improve treatment of liver fibrosis - Medical Xpress - March 18th, 2024
- 5 Questions To Ask About The Ethics Of Genetic Data - Forbes - March 18th, 2024
- Couple raising money to fix sons club feet caused by rare genetic condition - 21 Alive News - February 18th, 2024
- What can bulls tell us about men? Genetic discovery could translate to human fertility research - Medical Xpress - February 18th, 2024
- Legislation seeks to bar life insurance companies from purchasing recreational genetic testing data - Delaware First Media - February 18th, 2024
- Family-based study identifies potential new genetic factors linked to Alzheimer's risk in people with African ancestry - National Institute on Aging - February 18th, 2024
- Genetic determinants of micronucleus formation in vivo - Nature.com - February 18th, 2024
- Near-gapless and haplotype-resolved apple genomes provide insights into the genetic basis of rootstock-induced ... - Nature.com - February 18th, 2024
- Accurate and sensitive mutational signature analysis with MuSiCal - Nature.com - February 18th, 2024
- CRISPR, the Genetic Revolution of the 21st Century | OpenMind - BBVA OpenMind - February 18th, 2024
- Genetic control of thermomorphogenesis in tomato inflorescences - Nature.com - February 18th, 2024
- Natural selection and genetic diversity maintenance in a parasitic wasp during continuous biological control application - Nature.com - February 18th, 2024
- Understanding how natural genetic variation contributes to adaptive responses to low oxygen - News-Medical.Net - February 18th, 2024
- Division of Epidemiology and Genetics - Epidemiology and Genetics - University of Southern California - February 18th, 2024
- Genetic study clarifies the link between birth weight and adult morbidity - Medical Xpress - February 18th, 2024
- AI and genetics underpin project to speed up CVD diagnosis and personalise treatment - Hospital Healthcare - February 18th, 2024
- Study Reveals Complex Interaction Between Genetics and Environment in Brain Functioning - Medriva - February 18th, 2024
- Unraveling the Impact of Genetics and Socioeconomic Status on Behavioral and Psychiatric Traits - Medriva - February 18th, 2024
- Genetic Investigation Reveals CETP Gene Variants Linked to Cardiovascular Resilience in Genome-Wide Association ... - Physician's Weekly - December 30th, 2023
- Raha Kapoor's blue eyes remind fans of her great-grandfather, Raj Kapoor; here's what genetics says - IndiaTimes - December 30th, 2023
- Genetic clue to pericarditis inflammation points to promising new treatments - News-Medical.Net - December 30th, 2023
- Certain genetic predispositions may increase risk of atrial fibrillation among those with high alcohol consumption - 2 Minute Medicine - December 30th, 2023
- Understanding the genetic basis of hereditary diffuse gastric cancer - News-Medical.Net - December 30th, 2023
- Genetic engineering was meant to save chestnut trees. Then there was a mistake. - The Washington Post - December 30th, 2023
- Unraveling the mystery of hereditary diffuse gastric cancer - EurekAlert - December 30th, 2023
- What is Genetics? | AMNH - American Museum of Natural History - December 22nd, 2023
- Who killed Shelley Connolly? Genetic genealogy leads authorities to a suspect and a conviction - Alaska's News Source - December 22nd, 2023
- C.S. Lewis, Atheism, and the Genetic Fallacy - Word on Fire - December 22nd, 2023
- FDA approves first genetic test to assess opioid addiction risk using DNA sample - Fox News - December 22nd, 2023
- Genetic blueprint of wild grapes could help breed better grapes - University of California, Davis - December 22nd, 2023
- Unlocking the genetic secrets of grape seedlessness - Phys.org - December 22nd, 2023
- Unlocking the genetic secrets of drought resilience in Persian walnuts - Phys.org - December 22nd, 2023
- FDA approves genetic test to assess patients risk of developing an opioid addiction - KXAN.com - December 22nd, 2023
- How researchers are CReATiNG synthetic chromosomes faster and cheaper - EurekAlert - December 22nd, 2023
- The promise of genetic therapies in sickle cell disease - The Lancet - December 22nd, 2023
- Assessment of genetic diversity, population structure and wolf-dog hybridisation in the Eastern Romanian Carpathian ... - Nature.com - December 22nd, 2023
- Genetics and Heart Disease: What you need to know - IndiaTimes - December 22nd, 2023
- How to become a geneticist - University of Sydney - December 22nd, 2023
- Study sheds light on the ancestry and genetics of Coast Salish woolly dogs | News | Vancouver Island University ... - Vancouver Island University News - December 22nd, 2023
- Human genetics | Description, Chromosomes, & Inheritance - December 13th, 2023
- BASIC GENETICS INFORMATION - Understanding Genetics - NCBI Bookshelf - December 13th, 2023
- Introduction to Genetics - Open Textbook Library - December 13th, 2023
- Clues to preventing Alzheimer's come from patient who, despite genetics, evaded disease Washington University ... - Washington University School of... - December 13th, 2023
- Environmental stress rather than genetics influenced height differences in early Neolithic people: Study - Phys.org - December 13th, 2023
- What is trisomy 18? Why the fatal genetic disorder is in the news and what it's like to get the diagnosis. - Yahoo Life - December 13th, 2023
- Spanish scientists identify the molecular mechanisms controlling the genes involved in proper formation of the heart ... - EurekAlert - December 13th, 2023
- GENEFIT, the First-Ever Fitness Technology to Integrate Personal Genetics with Wearable Tracker Data, Launches to ... - Fitt Insider - December 13th, 2023
- Genetic 'protection' against depression was no match for pandemic stress, finds study of first-year college students - Medical Xpress - December 13th, 2023
- Origin and evolution of the triploid cultivated banana genome - Nature.com - December 13th, 2023
- CellCharter reveals spatial cell niches associated with tissue remodeling and cell plasticity - Nature.com - December 13th, 2023
- How do we get our eye color? A genetics expert reveals the fascinating truth - Fox News - December 13th, 2023
- WVU Today | WVU scientists spice up genetic research through habanero peppers and AI - WVU Today - December 13th, 2023
- Genetic mutations that promote reproduction tend to shorten human lifespan, study shows - Phys.org - December 13th, 2023
- Stanford Scientists Discover Common Genetic Factor That Fends Off Alzheimer's and Parkinson's - SciTechDaily - December 13th, 2023
- Association of genetic risk and lifestyle with pancreatic cancer and their age dependency: a large prospective cohort ... - BMC Medicine - December 13th, 2023
- New bill would block American genetic data from access by companies tied to foreign adversaries - Homeland Preparedness News - December 13th, 2023
- Electric Eels Shocking Ability To Alter The Genetics Of Nearby Animals - Forbes - December 13th, 2023
- "When them genetics kick in its all over" - NBA fans send in rib-tickling reactions as LeBron James attends Zhuri James' volleyball game -... - October 16th, 2023
- David Liu, chemist: We now have the technology to correct misspellings in our DNA that cause known genetic diseases - EL PAS USA - April 7th, 2023
- World Health Day 2023: Understanding the science of Epi-genetics and how to apply it in our daily lives - Free Press Journal - April 7th, 2023
- Genetics - National Institute of General Medical Sciences (NIGMS) - March 29th, 2023
- GENETICS 101 - Understanding Genetics - NCBI Bookshelf - March 29th, 2023
- People always think Im skinny because of good genetics theyre shocked when they see what I used to lo... - The US Sun - March 29th, 2023
- Forensics expert explains 'genetic genealogy' process believed to be used in Kohberger's arrest - KTVB.com - January 6th, 2023
- Idaho student murders: What is genetic genealogy, a tool reportedly used to help capture the suspect? - FOX 10 News Phoenix - January 6th, 2023