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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. … For the … 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. ​ … Genomic …
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 … tackle genomic medicine … Evaluating genetic features of inherited diseases by sequencing the genetic code helps with …
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.
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 …
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. …
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. … The Genome Sequencing Program uses …
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. … Talking …
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. … Gene Expression, Gene Variation, DNA, … is affected by the expression of one or more independently inherited genes. … Educational Resources …