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News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… who otherwise might not have been brought to clinical attention,” says Caralynn Wilczewski, Ph.D., a genetic … clinical findings based on their understanding of the disorder. The phenotype-first approach limits researchers … helped researchers find novel symptoms related to a disorder that clinicians previously missed because the …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… … Trimethylaminuria, Trimethylamine, FMO3, Genetic Disorder, Genetic Condition, Genetic Disease, Treating A …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… rarely requires transfusions. Thalassemia Major: A Serious Disorder The more severe form of the disease is thalassemia …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… 3500 male births worldwide. Because this is an inherited disorder, risks include a family history of Duchenne muscular … occur, but it is not inevitable and does not worsen as the disorder progresses. Few individuals with DMD live beyond … DMD, DMD Gene, X-linked Recessive Condition, Genetic Disorder, DMD Treatment … Duchenne muscular dystrophy is a …
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.
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
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.
… the cause of Saul-Wilson syndrome and characterize the disorder. What are some key findings? Ferreira: We found that … changes and similar clinical signs and symptoms. The disorder is very rare — only four patients were described in … the prognosis and different symptoms associated with this disorder. Another key project involves studying …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… live born infants. … Down Syndrome, Chromosome 21, Genetic Disorder, Prenatal Testing, Newborn Testing, Mental …
Educational Resources
Risk, in the context of genetics, refers to the probability that an individual will be affected by a particular genetic disorder.
… an individual will be affected by a particular genetic disorder. … Gene, Gene Environment Interaction, Inherited, … will be affected by a particular heritable or genetic disorder. Both a person’s genome and environmental exposures … genes that increases susceptibility to or overtly causes a disorder. Other individuals may be at higher risk because …
Research at NHGRI
The Translational and Functional Genomics Branch explores the genetic, epigenetic and metagenomic basis of human disorders.