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News Release
The zebrafish is a powerhouse tool that helps researchers better understand the genes that are implicated in disease.
… a symptom of a vitamin B12 metabolic disorder, explained Charles Venditti, M.D., Ph.D., head of the Organic Acid Research … the mechanisms contributing to the loss of eyesight, Dr. Venditti's group uses zebrafish created to glow. By breeding …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… in the blood and/or urine, and clinical history. Dr. Venditti will determine patient eligibility when definitive … sub-optimal metabolic control as determined by Dr. Venditti's review of the laboratory data; residing in a … by David Adams, M.D., Ph.D. and study clinical director Charles P. Venditti, M.D., Ph.D. Organic Acidemia Association …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… editing and transplants are likely to be successful,” said Charles P. Venditti, M.D., Ph.D., senior author and senior investigator … MMUT protein function is compromised in people with MMA, Venditti and his team chose to assess how well the MMUT …
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.
… Recently, Dr. Shchelochkov published a study with Charles Venditti, M.D., Ph.D. , chief of the NHGRI Metabolic Medicine … like cancer, hypertension and diabetes,” says Dr. Venditti. … Instead of using artificial intelligence to …
Staff
Dr. Galarreta is a board-certified pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch.
… In 2023, she joined as a Staff Clinician in Dr. Charles Venditti’s Organic Acid Research Section in the Metabolic … clinical research studies in organic acidemias in Dr. Venditti’s lab. … Galarreta CI , Hoyt E, Forero L, Curry CJ, …
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… Genomic Therapies for Methylmalonic and Propionic Acidemia Charles P. Venditti, M.D., Ph.D. 10:30 - 11:00 a.m. Liver … Residency and Fellowship Programs, NHGRI Panelists: Charles P. Venditti, Jerry Vockley, Gerard Berry, Stephanie …
News Release
NHGRI participated in a science communications contest called the Three-Minute Talk. NHGRI's Ryan Johnson came away with a first place win.
… Madeline Arnold works with NHGRI Senior Investigator Charles P. Venditti, M.D., Ph.D. in the Medical Genomics and Metabolic …
The Genomics Landscape
In the November 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 25th anniversary of NHGRI's Intramural Research Program.
… two NHGRI Intramural investigators, William Gahl and Charles Rotimi, were elected into the National Academy of … information, see the All of Us announcement . … Dr. Charles Rotimi, Chief of the NHGRI Intramural Metabolic, … Funds Awards for Genome Sequencing Centers … NHGRI's Charles Rotimi Named Quartz Africa Innovator … Related …
Staff
Dr. Oleg Shchelochkov is Director of NHGRI Clinical and Laboratory Residencies and Fellowships, and an Associate Investigator in the Office of the Clinical Director.
… liver cancer in urea cycle disorders. After joining Dr. Venditti’s lab at NHGRI, Dr. Shchelochkov implemented a new … 25754921 Manoli I, Myles J, Sloan JL, Shchelochkov OA , Venditti CP. A critical reappraisal of dietary practices in … J, Schoenfeld M, McGuire P, Rosing DR, Levin MD, Kopp JB, Venditti CP. Chronic kidney disease in propionic acidemia. …
Staff
Dr. Guanjie Chen is a senior research fellow with the NHGRI's Center for Research on Genomics and Global Health.
… Ao Yuan, Guanjie Chen, Zhongcheng Zhou, George Bonney, and Charles Rotimi. Gene Copy Number Analysis For Family data … and Biology Insights 2008;2 349-361 Ao Yuan, Guanjie Chen, Charles Rotimi. Genetic Network Analysis by Quasi-Bayesian … 2010 Jun. PMID: 20299471 Meilleur KG, Doumatey A, Huang H, Charles B, Chen G, et al. Circulating adiponectin is …