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News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… Malicdan. “Rare diseases can help us understand biological pathways, so we can better understand how those pathways contribute to other rare and common conditions.” NIH … for this condition and others involving autophagy pathways. … About NHGRI and NIH … Additional Resources … NIH …
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
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
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 …
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
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… Specifically, Dr. Shchelochkov is interested in a rare metabolic disorder called propionic acidemia, which affects … with Charles Venditti, M.D., Ph.D. , chief of the NHGRI Metabolic Medicine Branch, that used machine learning to find …
News Release
NHGRI researchers have shown that areas of the genome related to brain development harbor variants that may account for behavioral differences among different dog lineages.
… suggest that dogs and humans may have similar biological pathways that give rise to the range of differences in brain …
Lesson Plans
The microbiome lesson plans were inspired by lectures and resources on the microbiome offered at the National Human Genome Research Institute’s (NHGRI) Short Course in Genomics.
… NHGRI Exploring the Microbiome and Its Connection to Metabolic Syndrome Waqar Kazmi, M.A. Biology Department …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… a person with a genomic variant associated with a known metabolic disorder. Further testing found that the individual …