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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, …