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News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… On March 3, 2017, in honor of Rare Disease Day , a day celebrated worldwide to raise awareness … - to answer questions from the Reddit community as part of an "Ask Me Anything" (AMA). … uses genome sequencing in the clinic, along with a network of experts, to provide answers for patients and families …
Fact Sheets
Chromosomes are thread-like structures located inside the nucleus of animal and plant cells.
… are thread-like structures located inside the nucleus of animal and plant cells. … are thread-like structures located inside the nucleus of animal and plant cells. Each chromosome is made of protein … The unique structure of chromosomes keeps DNA tightly wrapped around spool-like …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system. … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly … in children, that results in progressive destruction of the nervous system. Tay-Sachs is caused by the absence of …
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 blood disorder in the … carry the sickle cell trait, which means they are carriers of the disease. Sickle cell disease is caused by a mutation …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… Behçet's disease is a disease that destroys blood vessels through … genital ulcers, as well as vision destroying inflammation of the eyes. Research suggests the disease develops due to pathogen exposure, along with a mix of genetic and environmental risk factors, but their …
Educational Resources
The zebrafish is a member of the minnow family of fish.
… The zebrafish is a member of the minnow family of fish. … Animal Model, Gene, Transgenic, Candidate Gene, Genetic … The zebrafish is a member of the minnow family of fish. The zebrafish is a model organism used to study the …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's Disease … Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function. … Huntington's Disease, Genetic Disease, Genes, Autosomal Dominant … inherited disorder associated with the progressive loss of brain and muscle function. Symptoms usually develop during …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… not accept all applicants due to the complex nature of the body and the diseases being investigated. … Manuscripts View a curated list of UDN Coordinating Center publications dating back to 2015. … The specific goals of UDN are to: (1) improve the level of diagnosis and care …
Talking Glossary
A gamete is a reproductive cell of an animal or plant.
… A gamete is a reproductive cell of an animal or plant. … A gamete is a reproductive cell of an animal or plant. In animals, female gametes are called … are haploid cells, with each cell carrying only one copy of each chromosome. During fertilization, a sperm and ovum …
Fact Sheets
A knockout mouse is a laboratory mouse in which researchers have inactivated an existing gene by replacing it or disrupting it with an artificial piece of DNA.
… by replacing it or disrupting it with an artificial piece of DNA. … Knocking out the activity of a gene provides valuable clues about what that gene … therapies can be developed and tested. Many of these mouse models are named after the gene that has been inactivated. …