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News Release
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
… involved uncovering the genetic basis of the rare disease Arterial Calcification due to Deficiency of CD73 (or ACDC, as the team called it). …
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood. … Alpha-1 … one normal gene can produce enough alpha-1 antitripsin to live healthy lives, especially if they do not smoke. …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… different antibodies that are associated with both arterial and venous thrombosis (clots in the arteries and … different antibodies (proteins produced by the body to fight off foreign substances) that are associated with … venous thrombotic events include the veins of the lungs (due to pulmonary embolism, a clot that typically has …
Staff
Dr. Manfred Boehm is a an adjunct investigator for the Office of the Clinical Director at NHGRI.
… Delbrück Center for Molecular Medicine, Berlin, from 1996 to 1997, and the University of Michigan, Ann Arbor, from 1997 … smooth muscle cells modulates inflammation following arterial injury in mice. J. Clin. Invest, 120(1):303-14. … human induced pluripotent stem cells (hiPSCs), arterial calcification … Dr. Manfred Boehm is a an adjunct …
Talking Glossary
Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs.
… racism. Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs. … racism. Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs. … in the 19th and early 20th centuries were proponents of such ideologies. By the mid-20th century, …
Educational Resources
Genetic drift is a mechanism of evolution. It refers to random fluctuations in the frequencies of alleles from generation to generation due to chance events.
… Genetic Drift … Genetic drift is a mechanism of evolution. It refers to random fluctuations in the frequencies of alleles from generation to generation due to chance events. … Genetic Drift, Evolution, Population …
Talking Glossary
Aneuploidy is an abnormality in the number of chromosomes in a cell due to loss or duplication. In humans, aneuploidy would be any number of chromosomes other than the usual 46.
… Aneuploidy … Aneuploidy is an abnormality in the number of chromosomes in a cell due to loss or duplication. In humans, aneuploidy would be any …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… Jeannine Mjoseth … National Institutes of Health (NIH) researchers have identified a treatment that …  in children with a rare genetic disease called DADA2 (deficiency of adenosine deaminase type 2). … The disease … when a malfunctioning gene hampers a person's ability to produce the enzyme ADA2 (adenosine deaminase 2). This can …
News Release
Researchers have now identified and catalogued more species - nearly 200 new bacteria and thousands of viruses - that reside on the human skin than has ever been possible, largely due to advances in bioinformatics and laboratory techniques.
… … Study identifies nearly 200 new bacteria and thousands of viruses residing on skin, far more than previously known. … on the human skin than has ever been possible, largely due to advances in bioinformatics and laboratory techniques. Some …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… Raymond MacDougall … National Institutes of Health researchers have identified gene variants that … fevers and six strokes by her sixth birthday-they began to suspect a common genetic cause and embarked on a medical … walls result. The researchers call the new syndrome, deficiency of ADA2, or DADA2. The enzyme ADA2 is chemically …