Search Results
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… of phenotypic diversity encountered in a single gene disorder, and applies gained insights to better understand … and basic sciences. Gaucher disease (GD), the prototype disorder studied, is the recessively inherited deficiency of … enzyme glucocerebrosidase (GCase). This well-characterized disorder has broad clinical diversity, ranging from death in …
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… Noonan syndrome is a disorder that involves unusual facial characteristics, short … Noonan syndrome is a disorder that involves unusual facial characteristics, short … and usually have a more severe or atypical form of the disorder. The cause of Noonan syndrome in the remaining 10 to …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… syndrome, and Griscelli syndrome. A rare inherited disorder that has been identified in about 400 people …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
Talking Glossary
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
… genomic variants associated with a hereditary or genetic disorder. … genomic variants associated with a hereditary or genetic disorder. For example, prenatal cell-free DNA testing is a … genomic variants associated with a hereditary or genetic disorder. …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… deficiency in the liver. Hemochromatosis, an iron overload disorder, can also predispose individuals to PCT. Twenty … types: Also called congenital porphyria. This is a rare disorder that mainly affects the skin. It results from low … inherited in an autosomal recessive pattern. An uncommon disorder that mainly affects the skin. It results from …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… arched foot or gait disturbances. Other symptoms of the disorder may include foot-bone abnormalities such as high … investigate whether the GARS gene plays some role in this disorder. And two defective forms of the gene implicated in …
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
… Retinitis pigmentosa is an inherited disorder, and therefore not caused by injury, infection or … factors. People suffering from RP are born with the disorder already programmed into their cells. Doctors can see … to their progressive degeneration. In most cases, the disorder is linked to a recessive gene, a gene that must be …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… of the altered (mutated) gene in each cell will cause the disorder. Usually a person who has myotonic dystrophy also … gene is passed down from one generation to the next. The disorder may begin earlier in life and signs and symptoms …