Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Sections
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 …
Event
On April 25, 2024, National DNA Day, the National Institutes of Health (NIH) will welcome a new statue, “The Ladder,” celebrating DNA and children.
… Mary Ellen Scherl earned a B.F.A. in Design and Advertising from …
News Release
On April 25, National DNA Day, the National Institutes of Health (NIH) will welcome a new statue, “The Ladder,” celebrating DNA and children.
… Institute (NHGRI). “The Ladder” was created by Mary Ellen Scherl, who took inspiration from biblical imagery and … Dr. Diana Bianchi, NICHD Director, the artist, Mary Ellen Scherl, Dr. John Constantino, from the Emory University …
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 …
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 …
File
… to the Association of American Physicians Document 36 Ellen Sidransky, M.D. New Chief, Social and Behavioral Research …