Search Results
Educational Resources
The Y chromosome is one of the two sex chromosomes that are involved in sex determination.
… Linked, X Chromosome, Y Chromosome, Phenotype, Fragile X Syndrome, Trait …
Educational Resources
X-linked, as related to genetics, refers to characteristics or traits that are influenced by genes on the X chromosome.
… Linked, X Chromosome, Y Chromosome, Phenotype, Fragile X Syndrome, Trait …
News Release
ASHG members selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and investigator with NHGRI, as their new president-elect for 2019.
… As the senior investigator and chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, Dr. … of development and overgrowth such as Pallister-Hall syndrome, McKusick-Kaufman syndrome and Proteus syndrome. He … Incidental Findings. In that capacity, he coauthored ACMG's guidelines on incidental (or secondary) findings that are …
Educational Resources
A retrovirus is a virus that uses RNA as its genetic material.
… Acquired Immunodeficiency Syndrome (AIDS), Cancer, Cell, Deoxyribonucleic Acid (DNA), …
Educational Resources
A virus is an infectious agent that occupies a place near the boundary between the living and the nonliving.
… Acquired Immunodeficiency Syndrome (AIDS), Bacteria, Cell, Deoxyribonucleic Acid (DNA), …
Staff
Dr. Francis Collins was a senior investigator in Center for Precision Health Research.
… Francis S. Collins, M.D., Ph.D., is the former director of the … for cystic fibrosis, neurofibromatosis, Huntington's disease, a familial endocrine cancer syndrome, and most recently, genes for type 2 diabetes, and … identifying new therapeutic opportunities. One of the lab's significant projects focuses on Hutchinson-Gilford progeria …
The Genomics Landscape
In the March 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly appointed Dr. Chris Gunter's role as Senior Advisor for Genomics Engagement as well as the 30 oral histories to celebrate the 30th anniversary of the launch of the Human Genome Project.
… a special lineup of speakers to help celebrate AGBT’s 20th anniversary, did not disappoint, with NIH Director … (including two NIH Directors!) were featured on PBS’s “ Finding Your Roots .” This series explores the ancestry … programs. She will also work closely with the Institute’s well-established Communications and Public Liaison Branch …
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… research careers. Dr. Criswell earned a bachelor’s degree in genetics and a master’s degree in public health from the University of California, … February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… and because I wanted to make a difference in people’s lives. In my home country of Paraguay, you go from high … a researcher came much later, when I was already in the U.S. finishing my training in medical genetics. After being … confirm diagnoses because of the lack of resources. That’s actually what prompted me to come to the U.S. after …
Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
… – 4:30 p.m. . Seyma Eroglu Ankylosing spine-brachydactyly syndrome: A possible novel skeletal dysplasia 2010T Kendall … for Genetic Disorders Platform talk: Rescue of Proteus syndrome lethality in mice with prenatal miransertib … will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and …