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Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… Calf muscles initially enlarge and the enlarged muscle tissue is eventually replaced with fat and connective tissue (pseudohypertrophy). Muscle contractures occur in the … muscle fibers shorten and fibrosis occurs in connective tissue. Occasionally, there can be pain in the calves. …
Research Funding
Frequently Asked Questions for IGVF RFAs: RFA-HG-20-043, RFA-HG-20-044, RFA-HG-20-045, RFA-HG-20-046, RFA-HG-20-047
… rationale for variants chosen for study. Can human fetal tissue be used in proposed studies? There are special considerations for human fetal tissue use in NIH projects. For more information about NIH … NOT-OD-19-128 . Also see the FAQs page for human fetal tissue research . Are mammalian model systems other than …
Educational Resources
Microarray technology is a general laboratory approach that involves binding an array of thousands to millions of known nucleic acid fragments to a solid surface, referred to as a “chip.”
… DNA or RNA isolated from a study sample (such as cells or tissue). Complementary base pairing between the sample and …
Profile
After major advances in hematology, David Bodine retires with an eye towards mentorship and a garden
David Bodine, founder of the Hematopoiesis Section and chief of the Genetics and Molecular Biology Branch, advanced the fields of gene therapy and hematology in his 38 years at the NIH. Now, he plans to continue his contributions to science as an emeritus and through training the next generation of scientists.
File
… X3A . CONCEPT CLEARANCE – Developmental Genotype- Tissue Expression (RFA) – Jyoti Dayal Jyoti Dayal pr esented the Developmental Genotype- Tissue Expression (dGTEx) concept , which will be an addition … By doing so, the program would establish an atlas of tissue -specific gene expression data, enhance our …
Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
… include discovering a gene that is crucial for tissue and organ formation during development. The gene …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… pile up, causing blockages and damaging vital organs and tissue. Sickle cells are destroyed rapidly in the bodies of … block the flow of blood through vessels, resulting in lung tissue damage that causes acute chest syndrome, pain …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… attempting to duplicate the clinical features of HD. Fetal tissue research: Investigators have implanted fetal tissue in rodents and non-human primates to better understand …
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… with his or her genomic information collected from stored tissue specimens in biorepositories. "These studies are based … associations. A large number of samples in eMERGE tissue repositories have been genotyped - that is, the …