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Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… percent of adolescent girls who have Turner syndrome. The thyroid gland becomes under-active in about 10 percent of … necessary to detect it early and if necessary treat with thyroid replacement Older or over-weight women with Turner … have a slightly higher risk of having an under active thyroid or developing diabetes. This should also be monitored …
News Release
Investigators with The Cancer Genome Atlas have discovered genomic differences in head and neck cancers caused by infection with the human papillomavirus.
… analyses on 279 tumors - head and neck squamous cell carcinomas (HNSCC) - from untreated patients. Approximately … use in most patients. Some 90 percent are squamous cell carcinomas, which occur in the surface layers of cells in the … genomic characterization of head and neck squamous cell carcinomas , Nature. Online January 28, 2015. DOI: …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… which is sometimes seen in colon cancer, lung cancer, thyroid cancer, brain tumors and some blood cancers. Other …
News Release
A genetic mutation that triggers bladder cancer in dogs is identical to a mutation that is implicated in multiple human cancers.
… skin cancer and cancer of the colon, rectum, ovary and thyroid. Coauthors of the paper in the March 12, 2015, …
Staff
Elaine Ostrander is chief of NHGRI's Cancer Genetics and Comparative Genomics Branch.
News Release
NIH is establishing the Multi-Omics for Health and Disease Consortium, with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance the generation and analysis of “multi-omic” data for human health research.
Diversity Center
Tuskegee University establishes the Carver Genomic Research Center.
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
… Klubo-Gwiezdzinska J (*Co-First Authors). Assessment of Thyroid Function in Patients with Alkaptonuria . JAMA Netw …
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. ​
… of novel genetic models to dissect resistance to thyroid hormone receptor a in zebrafish . Thyroid 30 (2):314-328. 2020. McElderry J, Carrington B, …
Staff
Dr. Heidi Parker is an Associate Investigator in the Comparative Genetics Section of the Cancer Genetics and Comparative Genomics Branch, NHGRI.