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Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… births. … Achondroplasia is caused by a gene alteration (mutation) in the FGFR3 gene. The FGFR3 gene makes a protein … or in individuals who do not have the typical symptoms, genetic testing can be used to identify a mutation in the FGFR3 gene. Genetic testing can identify mutations in 99 percent of …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… Mitochondrial diseases, metabolic disorders and cardio-genetic diseases Carlos Ferreira, M.D. Skeletal dysplasias, … Melissa Merideth, M.D., MPH Gynecologic aspects of genetic and metabolic diseases Drew Michael, Ph.D. Molecular … Program, Training Programs, Physicians, Metabolic Genetic Disorders, Rare Genetic Disorders, Newborn Screening …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… in which NHGRI is centrally involved, such as the Genetic Counseling Training Program that is collaboratively … physicians to diagnose, manage, and counsel patients with genetic disorders. The program exposes its trainees to genetic conditions that range from common to ultra-rare, …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … … . "Even experienced clinicians have difficulty diagnosing genetic syndromes in non-European populations." A young boy … Content … Facial recognition software helps diagnose rare genetic disease … NHGRI researchers have successfully used …
Healthcare Provider Genomics Education Resource
An FAQ designed to help healthcare professionals understand the diverse landscape of direct-to-consumer (DTC) genetic testing and the benefits and limitations of these tests.
… Direct-to-Consumer Genetic Testing for Healthcare Professionals  What is direct-to-consumer genetic testing?  Direct-to-consumer genetic tests (DTC-GT) … Fan, H. & Chu, J.-Y. A brief review of short tandem repeat mutation. Genomics Proteomics Bioinformatics 5, 7–14 (2007). …
News Release
Researchers used whole genome sequence data to investigate the origin of the mutation that causes "sickling" of red blood cells.
… genome sequence data to investigate the origin of the mutation that causes sickling of red blood cells, which … consequences in individuals that have two copies of the mutation. … Resolving a 40-Year-Old Debate Five haplotypes … wet period of the Sahara. 3. We identified a new set of 27 genetic variants inherited with the sickle allele that may …
Event
On December 7, 2022, NHGRI will host a webinar to discuss key findings from the Human Genetics and Genomics Workforce Survey Report.
… primary areas of work for employed respondents include genetic counseling, research and academia. Women made up the …
News Release
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.
… … National Institutes of Health researchers compared a new genetic animal model of Down syndrome to the standard model … NHGRI senior historian. “As cognitive treatments based on genetic models become more feasible in the future, …  … About NHGRI and NIH … Researchers study enhanced genetic animal model of Down syndrome … NIH researchers …
The Genomics Landscape
In the June 2, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new and improved Talking Glossary of Genomic and Genetic Terms - one of the premier educational resources offered by NHGRI, and it aims to help users better understand the basics of genomics and genetics.
… included a new name: the Talking Glossary of Genomic and Genetic Terms . First launched in 1998, the talking glossary … . To date, the new Talking Glossary of Genomic and Genetic Terms has 222 terms, of which 142 have new … coming months. The NHGRI Talking Glossary of Genomic and Genetic Terms is only one of a collection of remote-learning …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… to each of his or her children. The altered gene (gene mutation) that causes familial hypercholesterolemia is … of cholesterol levels, studies of heart function, and genetic testing. Blood testing of cholesterol levels may … of heart function, such as a stress test, may be abnormal. Genetic testing may show an alteration (mutation) in the LDL …