Search Results
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… Metabolism is a sequence of chemical reactions that take place in cells in the body. These reactions are responsible for the breakdown of nutrients and the generation of energy in our bodies. … that causes a block in a metabolic pathway leading to clinically significant consequences. …
Talking Glossary
Un rasgo, en lo que se relaciona a la genética, es una caracterÃstica especÃfica de una persona.
… los ojos) o cuantitativos (como la estatura o la presión arterial). Un rasgo determinado es parte del fenotipo general …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… This study was initially launched in 1994 to identify the genetic cause of familial Mediterranean fever (FMF). Since then, it has expanded to include several novel and undiagnosed causes of … diseases. Some autoinflammatory diseases have been shown to be single-gene disorders of natural immunity, while other …
News Release
NHGRI researchers have identified a genomic signature for some aggressive prostate tumors, which may help healthcare providers pinpoint treatment options.
… collaborators have identified a specific genomic signature of some aggressive prostate tumors, which may help health … we discovered might be the most comprehensive way to identify a specific subgroup of prostate cancer tumors … team is now exploring the molecular signature of BRCA2 -deficiency in prostate tumors from least to most aggressive. …
Staff
Dr. Pamela Schwartzberg is a adjunct investigator in NHGRI's Genetic Disease Research Branch.
… and her M.D. and Ph.D. degrees from the Columbia College of Physicians and Surgeons, Columbia University. During her … and on early studies using homologous recombination to introduce mutations into the germline of mice — work that … Research Institute at the end of 1997 and was promoted to senior investigator with tenure in 2003. Her laboratory's …
Explainer
Appropriate use of population descriptors in research is a critical scientific issue that is important for advancing genomic science and improving healthcare across human populations.
… The Big Picture Appropriate use of population descriptors in research is a critical … ethnicity and genetic ancestry — which are often used to distinguish groups of people participating in research and to inform some healthcare decisions.  The inaccurate belief …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… is a clinical and molecular geneticist and is the chief of the Center for Precision Health Research at the National … of Health. He uses genetic and genomic technologies to study the etiology of inherited disorders. He received his … syndrome and Amish microcephaly, and has contributed to the discovery of many others. In addition, he developed …
Intramural Training Office
In NIH's annual Three-Minute Talks (TmT) competition, postbaccalaureate researchers, graduate students, and postdoctoral fellows from each institute’s intramural research program have to describe their research clearly and engagingly in just three minutes using one PowerPoint slide. The competition challenges trainees to develop their communication skills as they explain the background, key findings, and significance of their work.
… A tale of three transporters: Exploring vitamin B12 deficiency using … topic and why they think it’s cool in just three minutes. To help refine their research stories, participants attend an … coaching. These sessions touch on various aspects of effective presentations, including content, clarity, …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… Many "medical foods" are designed to help manage patients with rare inborn errors of metabolism (IEMs), and can help prevent serious and … use is not carefully monitored and managed, according to a research team led by scientists at the National Human …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… The porphyrias are a group of different diseases, each caused by a specific abnormality … The essential functions of heme depend on its ability to bind oxygen. Heme is incorporated into hemoglobin, a … on which enzyme is deficient. Porphyria results in a deficiency or inactivity of a specific enzyme in the heme …