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News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… the last tea party, she received gene therapy for her rare disorder, GM1 gangliosidosis. … Only about one in … and to talk.” Scientists have described more than 7,000 rare disorders, the vast majority of which are thought to be …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… Achondroplasia - MedlinePlus Achondroplasia - Genetics and Rare Diseases Information Center … What is achondroplasia? … … of disproportionate short stature. … Achondroplasia, Bone Disorders, FGFR3 Gene, Gene Mutation … Achondroplasia is a … common form of disproportionate short stature. … Genetic Disorders …
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… the hemophilia. Males are affected by X-linked recessive disorders much more frequently than females. A major … that slows down the blood clotting process. … Genetic Disorders …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… bodies. Inborn errors of metabolism (IEM) are a group of disorders that causes a block in a metabolic pathway leading … some examples are listed below. IEM Examples Urea cycle disorders Ornithine transcarbamylase deficiency, … Tyrosinemia, phenylketonuria, homocysteinuria Carbohydrate disorders Galactosemia, fructosemia Mitochondrial disorders …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin … analysis for a possible diagnosis of DiGeorge syndrome, a rare disease. Credit: Paul Kruszka, et al. The researchers … Noonan syndrome and Williams syndrome , both of which are rare but seen by many clinicians. DiGeorge syndrome and Down …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… progressive destruction of the nervous system. … Genetic Disorders …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is a group of inherited red blood cell disorders. … Sickle cell disease is the most common inherited … cell disease is a group of inherited red blood cells disorders … Sickle Cell Disease, Inherited Blood Disorders, Gene Mutation, Hemoglobin-beta, Chromosome 11, Red …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… the blood of a chemical known as phenylalanine. … Genetic Disorders …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… decreases the risk of stroke in children with a rare genetic disease called DADA2 (deficiency of adenosine … in strokes. Image Credit: Darryl Leja, NHGRI. DADA2 is a rare disease that presents in childhood, even in children … … Anti-inflammatory drug halts strokes in children with rare disease … NIH researchers have identified a treatment …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… grants to several research teams to study the biology of rare and undiagnosed diseases. The new grants, pending … many medical disciplines to diagnose patients with unknown disorders. The UDN, established in 2012, now consists of … $2.5 million to study what specific genes do in rare, difficult-to-diagnose diseases. In this third round of …