NIH Researcher Recognized for Insights into Genetic Immune System Diseases
Monday, June 8, 2020
The National Academy of Medicine (NAM), first established in 1970 by the National Academy of Sciences as the Institute of Medicine (IOM), is comprised of more than 2,000 elected members from around the world who provide scientific and policy guidance on important matters relating to human health. Election to the NAM is considered one of the highest honors in the fields of health and medicine and recognizes individuals who have not only made critical scientific discoveries but have also demonstrated a laudable commitment to public service.
IRP senior investigator Luigi Notarangelo, M.D., was one of four IRP researchers recently elected to the NAM. As the head of the Immune Deficiency Genetics Section and the Laboratory of Clinical Immunology and Microbiology at the National Institute of Allergy and Infectious Diseases (NIAID), Dr. Notarangelo investigates the cellular and molecular roots of genetic conditions called primary immune deficiencies that compromise the immune system. These illnesses leave patients — many of whom are children — highly vulnerable to infections and can also lead to autoimmune problems caused when the immune system attacks the body’s own tissues. Some of Dr. Notarangelo’s patients have known genetic mutations, while for others the source of their disease remains a mystery.
Tuesday, September 25, 2018
The Human Genome Project gave scientists an incredible roadmap of the thousands of genes used to construct the human body. However, many individuals harbor DNA that differs markedly from the standard reference sequence produced by that initiative, and these variations can have profound implications for a person’s health. A recent study led by IRP scientists has uncovered yet another of these genetic variants, a rare mutation that causes the eye disease retinitis pigmentosa.