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News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… event. In NHGRI's Medical Genetics Branch , for example, Ellen Sidransky, M.D. , and her colleagues, have been probing the … people with Gaucher disease from Parkinson's disease," Dr. Sidransky said. Dr. Sidransky and her colleagues highlighted …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… education Oleg Shchelochkov, M.D. Propionic acidemia Ellen Sidransky, M.D. Gaucher disease, Lysosomal storage diseases …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… of the National Human Genome Research Institute by Dr. Ellen Sidransky. Dr. Sidransky is a Senior Investigator and Head of the Molecular …
The Genomics Landscape
In the October 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, reflects on the twelve years of groundbreaking research by the Clinical Sequencing Evidence-generating Research (CSER) consortium.
… New York Academy of Medicine on September 27, 2023. … Ellen Sidransky, M.D. , Chief of the NHGRI Medical Genetics Branch, … Medicine medal for contributions in biomedical science … Ellen Sidransky receives Breakthrough Prize for key advances …
Talking Glossary
This updated version of the Talking Glossary of Genomic and Genetic Terms was made possible through the skills, expertise, advice and contributions from many individuals.
… Daphne Bell David Adams Ebony Madden Elaine Ostrander Ellen Sidransky Eric Green Julie Sapp Julie Segre Jyoti Dayal Kris …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… Stone DL , Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E. Glucocerebrosidase gene mutations in patients … disease . Hum Mutat . 2000: 15(2):181-8. Stone D , Sidransky E. Hydrops fetalis: Lysosomal storage disorders in …
File
… to the Association of American Physicians Document 36 Ellen Sidransky, M.D. New Chief, Social and Behavioral Research …
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in September 2023.
… Fundamental Physics, And Mathematics Thomas Gasser, Ellen Sidransky, Andrew Singleton: 2024 Breakthrough Prize in Life …
Event
A discussion of NHGRI’s ongoing actions to address racism and to support equity and inclusion.
… Moderator: Sarah Bates (NHGRI) 1:59 p.m. Closing Remarks Ellen Rolfes (NHGRI) … A discussion of NHGRI’s ongoing …
Policy Issues
The Genome Statute and Legislation Database is comprised of state statutes and bills introduced during U.S. state legislative sessions.
… Application” (grant #: R01HG008605 ; Susan M. Wolf,. Ellen Wright Clayton, and Frances Lawrenz, principal …