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News Release
When Dr. Ellen Sidransky, 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in Parkinson's research.
Professional Development Programs
The National Institutes of Health (NIH) seeks qualified physicians, physician assistants, nurse practitioners and genetic counselors interested in acquiring credentials and experience to lead genomic medicine research and implementation programs at the NIH, major medical centers and other organizations.
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
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… research ranging from genome-wide association studies to positional cloning to functional genomic analyses using animal models. … E, Robbins CM, Moses T, Namkoong J, Chen S, and Trent JM. Cloning and characterization of a novel gene, SHPRH, encoding …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
File
… Ala Gly C sites (STS) mapping Glu A chromosome (YAC) by positional cloning G concept established cloning Project Archibald … developed map developed Organization (HUGO) formed positional cloning 1865 1900 1905 1913 1944 1953 1966 1972 …
News Release
Researchers are trying to understand a process whose rules are constantly being written and rewritten by cancer's rogue cells: who will more likely relapse.
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… Diseases (NIAMS) to work as a post-doctoral fellow on the positional cloning of the gene mutated in patients with familial … by making major contributions to the linkage mapping and positional cloning of the gene mutated in familial …
Profile
In a conversation, Dr. Elise Feingold reflects on her path to NHGRI, describes her experience leading the ENCODE program and shares advice for those considering different scientific careers.
The Genomics Landscape
In the October 2018 edition of The Genomics Landscape, NHGRI Director Dr. Eric Green highlights Dr. Dan Kastner as the Federal Employee of the Year.
… organized and led an international consortium that used positional cloning to identify MEFV, the gene mutated in familial …
Educational Resources
A missense mutation is when the change of a single base pair causes the substitution of a different amino acid in the resulting protein.