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News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… Blood Institute, the National Institute of Neurological Disorders and Stroke, the University of Florida, Northwestern … and her colleagues are now studying samples from different brain regions of these new cross-bred mice to discover what … the most severe forms of Gaucher disease that affect the brain, she said. Last year, Dr. Sidransky and other …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… genes. But doctors have struggled to know which of these inherited differences - variants - really matter. … forms of cancer, cardiovascular disease and metabolic disorders where the variants are likely to have a more direct … in genes, doctors have struggled to know which of these inherited differences (variants) really matter. ​ …
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… this dilemma? Evaluating all potential genetic features of inherited diseases by sequencing the genetic code is a … practiced because the test is the same no matter what inherited disease the patient has," said Dr. Biesecker. The … Evaluating genetic features of inherited diseases by sequencing the genetic code helps with …
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… physicians develop research programs dedicated to the disorders they specialize in. The program trains fellows to … errors of metabolism" (IEM). Patients with IEM have an inherited deficiency of a required protein (or proteins) … a basic scientist. "The physicians have actually seen the disorders they are studying in their patients," said Dr. …
Talking Glossary
A pathogenic variant is a genomic variant that may increase a person’s risk of developing a condition, disorder or disease.
… but increases the risk for it. Pathogenic variants can be inherited from a parent or can occur spontaneously due to …
Talking Glossary
Genetics is the branch of biology concerned with the study of inheritance, including the interplay of genes, DNA variation and their interactions with environmental factors.
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… to identify genes and genomic variants underlying human inherited disease across its full spectrum, including rare … enhance the ability of the community to pursue other human inherited diseases. For a summary of the process that led to … to identify genes and genomic variants underlying human inherited disease. …
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
Talking Glossary
Dominant, as related to genetics, refers to the relationship between an observed trait and the two inherited versions of a gene related to that trait.
… to the relationship between an observed trait and the two inherited versions of a gene related to that trait. … to the relationship between an observed trait and the two inherited versions of a gene related to that trait. … to the relationship between an observed trait and the two inherited versions of a gene related to that trait. …
Educational Resources
Epistasis is a circumstance where the expression of one gene is affected by the expression of one or more independently inherited genes.
… is affected by the expression of one or more independently inherited genes. … is affected by the expression of one or more independently inherited genes. …