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News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… "This is transformative research because it provides new pathways for studying pigmentation and pigment cell … novel and underappreciated genomic alterations and pathways," said Stacie Loftus, Ph.D. , co-author and staff …
The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… M.D., Ph.D. , as chief of the recently established Metabolic Medicine Branch within the Institute’s Intramural … Program. Dr. Venditti was selected for his expertise in metabolic diseases as well as his leadership and mentorship … became a senior investigator in the Medical Genomics and Metabolic Genomics Branch. Dr. Venditti will begin his …
News Release
NIH-funded researchers completed the PanCancer Atlas from over 10,000 tumors representing 33 types of cancer.
… include cell of origin, oncogenic processes and oncogenic pathways. Multiple companion papers report in-depth … investigations on the genomic alterations in the signaling pathways that control cell cycle progression, cell death and …
News Release
NIH-led study finds genetic markers that explain up to 12% of the differences between two people’s blood pressure.
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… to kidney failure. MMA patients also suffer from severe metabolic instability, failure to thrive, intellectual and …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… broad experiences in clinical and molecular genetics, metabolic diseases, and bioinformatic applications. The … in several respects. It exposes residents to rare metabolic disorders that might not be seen in a more typical … spectrometry to enable diagnosis of a wide range of inborn metabolic disorders. Fellows in this laboratory program …
News Release
Researchers show critical association between diabetes and previously unlinked ZRANB3 gene.
… senior investigator with the NHGRI Medical Genomics and Metabolic Genetics Branch. “Thus, studying the genomes of … interests include diabetes and other endocrine and metabolic diseases; digestive diseases, nutrition, and …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… (NEJM) . Biesecker, chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, predicted that about 10,000 such … disease, mental disability, other neuropathies, metabolic disorders, epilepsy, cardiomyopathy, cancer and …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… G. Biesecker, M.D., chief of the Medical Genomics and Metabolic Genetics Branch (MGMGB) at the National Human … and supports research on diabetes and other endocrine and metabolic diseases; digestive diseases, nutrition and …
The Genomics Landscape
In the February 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes Dr. Bill Gahl's achievements as Clinical Director.
… career, Bill has focused on the natural history of rare metabolic disorders and the discovery of new genetic …