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 …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
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.
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 …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Studies of Asthma in Populations of African Descent Attention Deficit Disorder with Hyperactivity Genetic Analysis of Attention Deficit …
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 … of the bones of the rib cage. … 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 …
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. … Cell-free DNA testing is a laboratory method that … 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. … Talking Glossary …
Research Funding
The GREGoR (formerly the Mendelian Genomics Research Consortium) is aimed at significantly increasing the proportion of Mendelian disorders with an identified genetic cause through enhanced data sharing, collaboration and an increased focus on the application of new technologies, sequencing strategies and analytical approaches.
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 …