Search Results
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… therapeutics for the rare premature-aging disease, Hutchinson Gilford Progeria Syndrome (HGPS). Two of those treatment strategies … diseases and of the potential for therapeutic development. Hutchinson-Gilford Progeria Syndrome In the ultra-rare premature aging …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… Turner syndrome is a chromosomal condition that alters development … Turner syndrome is a chromosomal condition that alters development … this condition that can vary among women who have Turner syndrome include: extra skin on the neck (webbed neck), … not survive to term (miscarriages and stillbirths). Turner syndrome is a chromosomal condition related to the X …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… Klinefelter syndrome is a condition that occurs in men as a result of an … Klinefelter syndrome is a condition that occurs in men as a result of an … characteristics of their gender. Most often, Klinefelter syndrome is the result of one extra X (written as XXY). …
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 … Genetic Disease, Down Syndrome, Trisomy, Chromsomes, Prenatal Screening … Down syndrome (also called Trisomy 21) is a genetic condition … disabilities and physical features characteristic of Down syndrome, which vary among individuals. …
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 … Antiphospholipid syndrome (APS), also known as antiphospholipid antibody syndrome and sometimes Hughes syndrome, is a disorder … chorea (a movement disorder), migraines, Guillain-Barré syndrome, diabetic peripheral neuropathy, transverse myelitis …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… Marfan syndrome an inherited disorder of connective tissue occurring … Marfan syndrome is one of the most common inherited disorders of … There is a wide variability in clinical symptoms in Marfan syndrome with the most notable occurring in eye, skeleton, … connective tissue and cardiovascular systems. Marfan syndrome is caused by mutations in the FBN1 gene. FBN1 …
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.
… WAGR syndrome is a rare genetic condition caused by a deletion of … located on chromosome number 11. Babies born with WAGR syndrome often have eye problems, and are at high risk for … WAGR syndrome is a rare genetic condition that can affect both boys and girls. Babies born with WAGR syndrome often have eye problems, and are at high risk for …
Staff
Dr. Francis Collins was a senior investigator in Center for Precision Health Research.
… genes for type 2 diabetes, and the gene that causes Hutchinson-Gilford progeria syndrome, a rare condition that causes premature … One of the lab's significant projects focuses on Hutchinson-Gilford progeria syndrome (HGPS), a rare genetic disorder … Collins FS. A targeted antisense therapeutic approach for Hutchinson-Gilford progeria syndrome . Nat Med. …
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… Cri du chat syndrome is a rare genetic condition that is caused by the … Cri du chat syndrome - also known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that is caused by the … The symptoms of cri du chat syndrome vary among individuals. The variability of the …
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 … Noonan syndrome is a disorder that involves unusual facial … and malformations of the bones of the rib cage. Noonan syndrome is caused by changes in one of several autosomal dominant genes. A person who has Noonan syndrome may have inherited an altered (mutated) gene from …