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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 100,000 to … 200,000 babies are born with GM1 gangliosidosis, a genetic disorder caused by alterations in the DNA of a single gene, … documenting the symptom progression of children with the disorder. That’s when she met Jojo.  Over the years, Dr. …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… ​ … Trimethylaminuria, Trimethylamine, FMO3, Genetic Disorder, Genetic Condition, Genetic Disease, Treating A …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… rarely requires transfusions. Thalassemia Major: A Serious Disorder The more severe form of the disease is thalassemia …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… 3500 male births worldwide. Because this is an inherited disorder, risks include a family history of Duchenne muscular … occur, but it is not inevitable and does not worsen as the disorder progresses. Few individuals with DMD live beyond … DMD, DMD Gene, X-linked Recessive Condition, Genetic Disorder, DMD Treatment … Duchenne muscular dystrophy is a …
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… live born infants. … Down Syndrome, Chromosome 21, Genetic Disorder, Prenatal Testing, Newborn Testing, Mental …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… the cause of Saul-Wilson syndrome and characterize the disorder. What are some key findings? Ferreira: We found that … changes and similar clinical signs and symptoms. The disorder is very rare — only four patients were described in … the prognosis and different symptoms associated with this disorder. Another key project involves studying …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
News Release
NHGRI has appointed Chris Gunter, Ph.D., as a senior advisor for genomics engagement. In this role, Dr. Gunter will advise the NHGRI director and the institute on issues and challenges associated with engaging the public about genomics and genomic medicine.
… her research investigating primate social behavior and autism genetics, as well as evaluating methods of public … engagement, genomic medicine, primate social behavior, autism genetics, primate social behavior … NHGRI has …
News Release
When it comes to Attention-Deficit/Hyperactivity Disorder (ADHD), genetics do make an impact.
… M.A. … When it comes to Attention-Deficit/Hyperactivity Disorder (ADHD), genetics do make an impact. … ADHD is as … brain connections, called white matter tracts, tied to the disorder. This study builds on research by the Psychiatric … they increase the genetic risk for certain symptoms of the disorder. The more ADHD related genetic variations a person …