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News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… The National Institutes of Health will award nearly $80 million to support the … with one of about 7,000 Mendelian diseases, which are disorders generally thought to be caused by mutations in a … goal is to significantly increase the number of Mendelian disorders for which the genetic cause is known. To achieve …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… With hundreds of rare bone disorders catalogued and more to be discovered, Dr. Ferreira discusses the challenges of skeletal genomics. … to be a physicist or a mathematician. During my last year of high school, I decided to pursue a career in medicine … fit for me, and I was hoping to help patients with rare disorders. …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… loss. Some people who have Down syndrome have low activity of the thyroid gland (hypothyroidism) - an organ in the lower … 21 means that each cell in the body has three copies of chromosome 21 instead of the usual two copies. Having an extra number 21 chromosome …
News Release
When it comes to Attention-Deficit/Hyperactivity Disorder (ADHD), genetics do make an impact.
… investigator at the Social and Behavioral Research Branch of the National Human Genome Research Institute (NHGRI). But, … DNA come together to have a huge influence on creating one of ADHD's cardinal symptoms; hyperactivity-impulsivity. But … advancement. What's more, ADHD is a leading risk for mood disorders, substance abuse and even car accidents. With this …
Educational Resources
Risk, in the context of genetics, refers to the probability that an individual will be affected by a particular genetic disorder.
… Risk, in the context of genetics, refers to the probability that an individual … a genetic variant (or allele) in one gene or a combination of many variants in different genes that increases … or more environmental factors that promote the development of a certain disorder. …
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… used a DNA-editing technique to extend the lifespan of mice with the genetic variation associated with progeria, … the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health; Broad Institute of … virtually all of these children develop health issues in childhood and adolescence that are normally associated with …
Research at NHGRI
The Translational and Functional Genomics Branch explores the genetic, epigenetic and metagenomic basis of human disorders.
… by exploring the genetic, epigenetic and metagenomic basis of human disorders. … TFGB researchers have developed a wide range of experimental and computational techniques to study all aspects of the genomes of humans, microorganisms that live on humans … into improved diagnoses and therapeutics for human disorders. …
News Release
A simple blood draw is replacing a giant needle to the belly for testing their fetuses for a range of genetic disorders.
… Pregnant women are breathing a collective sigh of relief now that a simple blood draw is replacing a giant … needle to the belly for testing their fetuses for a range of genetic disorders. This non-invasive blood test, combined with … practical and ethical issues, according to a new survey of more than a thousand physicians. Researchers with the …
Talking Glossary
A pathogenic variant is a genomic variant that may increase a person’s risk of developing a condition, disorder or disease.
… is a genomic variant that may increase a person’s risk of developing a condition, disorder or disease. … is a genomic variant that may increase a person’s risk of developing a condition, disorder or disease. In many … is a genomic variant that may increase a person’s risk of developing a condition, disorder or disease. …
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… disease with no known cure. Today, Dr. McGuire is one of the world's leading experts in the disease, and, armed … to NHGRI as the newest faculty member to join its Division of Intramural Research. … physicians develop research programs dedicated to the disorders they specialize in. The program trains fellows to …