Search Results
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… A low level of red blood cells, which is called anemia Low levels of white blood cells Low levels of clotting …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… disorders such as cystic fibrosis and sickle cell anemia. But many rare disorders that could benefit from early …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… of RPS-associated phenotypes of Diamond-Blackfan anemia to include CNS and morphological traits in … J, Pavan WJ, Keays DA. Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… may include enlarged liver or spleen, decreased platelets, anemia, bone pain or fractures, and generalized fatigue. …
Staff
Dr. Lawrence Brody is a senior investigator in NHGRI's Social and Behavioral Research Branch and director of NHGRI's Division of Genomics and Society.
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… with birth defects and with diseases of aging such as anemia and dementia. Dr. Brody is also interested the …
Staff
Dr. Shurjo Sen is a program director in NHGRI's Division of Genome Sciences who manages a portfolio of grants focused upon genomic data sciences, and is particularly interested in transitioning genomics from a centralized data repository model to cloud-based collaborative science.
… provide a comprehensive molecular diagnosis of Fanconi anemia. Blood . 2013 May 30;121(22):e138-48 [ PubMed ] …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… myasthenia gravis, Graves' disease, autoimmune hemolytic anemia, and Evan's syndrome. … A diagnosis of APS is made …
For Patients and Families
Por lo general, se considera que una enfermedad es rara cuando afecta a menos de 200,000 personas en los Estados Unidos en cualquier momento dado.
… con factores ambientales incluyen tipos poco frecuentes de anemia causada por dietas carentes de vitaminas o por ciertos …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… mosaicism in three siblings affected with Fanconi anemia group FA-G. (Cancer Genetics) 2976T. May Christine …
Fact Sheets
ADN es el compuesto quÃmico que contiene las instrucciones necesarias para desarrollar y dirigir las actividades de casi todos los organismos vivos. ​
… otras enfermedades. Éstas eran afecciones, tales como la anemia drepanocÃtica, que tienen patrones de herencia muy …