Search Results
For Patients and Families
An adult has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
… Biology and Human Malformations; Inborn Errors of Metabolism; and Current Concepts in Clinical Molecular …
News Release
NIH-led study finds genetic markers that explain up to 12% of the differences between two people’s blood pressure.
… several specific genomic loci that may be relevant to iron metabolism and a type of cellular receptor known as … loci, several reside in genes that play a role in iron metabolism, confirming previous reports that high levels of …
Staff
Shirley Freeman is an Intramural Program Assistant for NHGRI's Center for Research on Genomics and Global Health.
Research Funding
Effort to accelerate understanding of the molecular basis of cancer using genome analysis technologies, including large-scale genome sequencing.
…  Kidney cancer progression linked to shifts in tumor metabolism  (2013)  Study establishes basis for genomic …
Staff
Dr. Amy Bentley is a Staff Scientist with the NHGRI's Center for Research on Genomics and Global Health.
… Metabolic Disorders. Expert Review of Endocrinology and Metabolism . 2012 Nov; 7(6): 659-69. Adeyemo A, Bentley AR …
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.
… provide leadership on research into diseases that disrupt metabolism. Dr. Venditti has been at the NHGRI for nearly 20 …
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
… in the new experiments showed signs of damage. Their metabolism and pattern of gene expression were different from … research target. The research team reported that the metabolism and gene expression of the crucial TFH cells are …
News Release
Researchers have conducted the first study to look at the genomic underpinnings of obesity in continental Africans and African Americans.