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Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
Down syndrome is a chromosomal condition related to chromosome 21. … 1 in 800 to 1 in 1000 live born infants. … People who have Down syndrome have learning difficulties, mental disability, a …
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
Down Syndrome (Trisomy 21) … Down syndrome is a genetic disease resulting from a chromosomal …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
Syndrome … A syndrome is a collection of recognizable traits or … and are associated with a specific disease. … Fragile X Syndrome, Genetic Variation, Genetic Testing, Genetic Disease … A syndrome, as related to genetics, is a group of traits or …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… and Latin Americans. … The disease, 22q11.2 deletion syndrome , also known as DiGeorge syndrome and … This technology was also very accurate in diagnosing Down syndrome , according to a study published in December … rare but seen by many clinicians. DiGeorge syndrome and Down syndrome are now part of the Atlas of Human …
Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
… Fragile X Syndrome … Fragile X syndrome is a hereditary disorder affecting mostly males. … … Y Chromosome, Genetic Disorder, Mutation … Fragile X syndrome is a genetic condition that affects a person’s …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute. ​
… long-term commitment to developing prenatal treatments for Down syndrome. They hypothesize that giving safe and efficacious … our knowledge using RNA sequencing. Prenatal Therapy for Down Syndrome Down syndrome is the focus of prenatal …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… Velocardiofacial syndrome is the most common syndrome associated with a cleft palate. … Velocardiofacial … IQ scores. This combination of test scores brings down the full scale IQ scores but they won't represent the …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… Antiphospholipid Syndrome (APS) is a disorder characterized by elevated levels … (clots in the arteries and veins). … Antiphospholipid syndrome (APS), also known as antiphospholipid antibody … tests detect antibodies based on their ability to slow down phospholipid-dependent clotting reactions. Most …
The Genomics Landscape
In the February 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes Dr. Bill Gahl's achievements as Clinical Director.
… Research Program, Bill Gahl, M.D., Ph.D., stepped down from this important leadership position at the end of … both a physician and a scientist. Although he has stepped down as Clinical Director, he will remain at NHGRI to focus … disorders of sialic acid metabolism, Hermansky-Pudlak syndrome, and alkaptonuria. One of Bill's signature …