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News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… of the genes to be definitively associated with the most common form of the disease. The work was funded by the … medicine. With over 20 expert panels working on different diseases — breast and ovarian cancer, glaucoma and familial … of the genes to be definitively associated with the most common form of the disease. … Clinical Genome Resource …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… of helping everyone else affected by CFZS and similar diseases in the future," said Mr. Hanson. "We've come a long …
Event
NHGRI, National Institute of Environmental Health Sciences (NIEHS) and National Cancer Institute (NCI) will host a pre-application interactive webinar for the Multi-Omics for Health and Disease program funding opportunity announcements (FOAs): RFA-HG-22-008, RFA-HG-22-009 and RFA-HG-22-010.
Staff
Dr. Ajay Pillai is a program director in the Division of Genome Sciences at the National Human Genome Research Institute.​
… ), and other computational approaches. He co-leads two Common Fund programs:  HuBMAP  (single-cell mapping of … Ph.D. … Ajay Pillai, Molecular Libraries Program, NIH Common Fund, mental health, bioinformatics … Ajay Pillai, Molecular Libraries Program, NIH Common Fund, mental health, bioinformatics … Dr. Ajay Pillai …
Research Funding
Applications demonstrating excellent grantsmanship, grant mechanisms and research methodologies common to ethical, legal and social implications research.
… a variety of grant mechanisms and research methodologies common to ethical, legal and social implications (ELSI) … grantsmanship, grant mechanisms and research methodologies common to ethical, legal and social implications research.​ ​ … grantsmanship, grant mechanisms and research methodologies common to ethical, legal and social implications research. … …
Genomics Teaching Tool
An activity that demonstrates how DNA can be isolated from a strawberry using common household items.
… how DNA can be isolated from a strawberry using common household items. … An activity that demonstrates how DNA can be isolated from a strawberry using common household items. … Genomics Teaching Tool …
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
Clinical Research
This study explores how microbes, such as bacteria and fungi, contribute to a very common skin condition called Atopic Dermatitis, known as eczema.
… microbes, such as bacteria and fungi, contribute to a very common skin condition called Atopic Dermatitis (AD), also … study will benefit patients with skin and other immune diseases in the future. Does skin sampling through skin swabs … microbes, such as bacteria and fungi, contribute to a very common skin condition called Atopic Dermatitis, known as …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… to apply these standards in the context of particular diseases. ClinGen projects center on developing processes and … ClinGen and ClinVar seek to combine them into one common central database. In the last two years, nearly 300 …
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… M.D., Ph.D., a pioneer in the field of autoinflammatory diseases, and his team discovered CRIA, which has symptoms … unexplained fever, swollen glands and other symptoms or diseases, and then at over a quarter million people from … are routinely used to treat autoinflammatory and chronic diseases such as rheumatoid arthritis, had little effect on …