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Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… to its normal size). Thrombocytopenia An association with immune thrombocytopenia (low platelets) has also been … category of autoimmune disorders (conditions caused by an immune response against the body's own tissues). Individuals …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… disorder (a condition that occurs when the body's immune system attacks normal, healthy body tissue). However, no …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… could provide insights into how the cell’s recycling system contributes to a healthy brain. … Researchers at the …
The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… the COVID-19 pandemic to sequence SARS-CoV-2 genomes and immune-response transcriptomes collected as part of several …
Fact Sheets
Epigenomics is a field in which researchers chart the locations and understand the functions of all the chemical tags that mark the genome.
… can switch on or off genes involved in cell growth or the immune response. These changes can lead to uncontrolled … growth, a hallmark of cancer, or to a failure of the immune system to destroy tumors. In a type of brain tumor called …
News Release
NIH-funded researchers completed the PanCancer Atlas from over 10,000 tumors representing 33 types of cancer.
… to other parts of the body through the circulatory system. Image credit: Darryl Leja, NHGRI. "TCGA was the first … and protein expression; and the interplay of tumor and immune cells. These findings will help prioritize the …
Fact Sheet
Pharmacogenomics is a growing area of genomic medicine that uses a person’s genomic information to help healthcare providers select the medications and dosages that are predicted to work best in each patient.
… some cases, pharmacogenomic testing can be used to predict immune reactions to certain medications. For example, people … the cancer cells from growing and signals the patient’s immune system to kill the cancer cells. Pharmacogenomic testing of a …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… of the parathyroid hormone that can result in seizures); immune system problems which make it difficult for the body to fight … aggressively with antibiotics in infants and children with immune problems. Early intervention and speech therapies are …
Educational Resources
AIDS is a collection of symptoms known as acquired immunodeficiency syndrome.
… human immunodeficiency virus (HIV), which leads to loss of immune cells and leaves individuals susceptible to other …
News Release
Top genome scientists from over 20 countries have joined forces in an effort to improve cooperation and coordination of genomic medicine research worldwide.
… hosted by the Singapore National University Health System. The organizers hope to attract as many as 150 … database of up to 500,000 people. Israel's Clalit health system is providing all medical institutes with … by certain medications in people with high-risk forms of immune-system genes. "Pharmacogenetics cards," similar to …