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News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… miRNAs in peripheral blood of African Americans related to metabolic syndrome and abdominal obesity. (Health Services … protocol on congenital disorders of glycosylation. (Metabolic Disorders) 2267T. Hadass Pri Chen: Congenital … inborn error of lipid metabolism due to DGAT1 mutations. (Metabolic Disorders) *2271T. Oleg Schelochkov: A Zebrafish …
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… edge," said Dr. McGuire referring to a phenomenon known as metabolic decompensation - a biochemical instability that is … Infections, like the flu, are the most common cause of metabolic decompensation in patients with IEM. After medical … Biesecker, M.D., chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, who leads the program, explained …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… patients and made progress in understanding the biological pathways and proteins that are important for the regulation … of the immune system's responses." Cells use biological pathways to send and receive chemical cues in reaction to …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… our studies of Gaucher disease, we hope to identify pathways, genes and therapies that might be involved in or …
News Release
NIH scientists proposed a new approach for finding ways to impede or halt cancer's spread: transgenic zebrafish as a live animal model of metastasis.
… entire length of the embryo, driven by the same molecular pathways that drive human cancer cells to new sites in the … the embryo. These compounds targeted "a wide variety" of pathways and genes with potential roles in metastasis. Those pathways and genes may be targets for further anti-metastasis …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… disease has enabled us to probe the development and common pathways behind diseases," Dr. Lifton said. "These are …
News Release
Charles Rotimi, Ph.D., was awarded the Academy Medal for Distinguished Contributions in Biomedical Science by the New York Academy of Medicine. This honor, established in 1929, recognizes investigators with sustained and impactful accomplishments in biomedical research and an interest in translating these findings to advance human health.
… Health, a group that uses genomic tools to understand metabolic disorders such as obesity, diabetes, and … Research Program, which includes establishing the Metabolic Medicine Branch in 2021 and launching programs to …
News Release
Investigators with The Cancer Genome Atlas have discovered genomic differences in head and neck cancers caused by infection with the human papillomavirus.
… regulation ( CCND1 ). These genes may play roles in pathways that control cell growth and proliferation, and for …