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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 phenotype, enabling the delineation of a more complete spectrum of clinical presentations. Recently, this research … Sidransky E. Gaucher disease: mutations and polymorphism spectrum in the glucocerebrosidase gene ( GBA ). Hum Mutation …
Staff
Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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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. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
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 …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… hand flapping, hand biting, temper tantrums and autism. Other behaviors in boys after they have reached … is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex … most cases, males experience more severe symptoms of the disorder than females. A striking characteristic of X-linked …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… behavioral, and/or psychiatric disorders including autism, attention deficit disorder, obsessive compulsive disorder, anxiety disorders, and depression. Early-onset …
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 …
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 …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… have communication and social interaction problems such as autism. As adults, these individuals have an increased risk …