Science at the heart of medicine

Inside Einstein

Pompe’s Circumstance — Dr. Jeffrey Pessin has been awarded $2.5 million from the National Institute of Arthritis and Musculoskeletal and Skin Diseases to study the mechanism of Pompe’s disease.  Resulting from deficiency in an enzyme that breaks down glycogen, a storage form of glucose in the liver and muscle that is the major source of energy for cells, Pompe’s disease can cause fatal heart and lung failure in infants.  The process by which cells degrade damaged or unused components and molecules is called macroautophagy and late events in this pathway are damaged in this disease.  The grant will aid Dr. Pessin’s research into the mechanism of muscle degradation in Pompe’s disease and how defects in macroautophagy contribute to this process.  Ultimately, Dr. Pessin aims to design nutritional, exercise, and drug therapies that may help restore proper function in this pathway, which also might be used to treat related diseases.  Dr. Pessin is professor of medicine and of molecular pharmacology, director of the Diabetes Research Center, and the Judy R. and Alfred A. Rosenberg Professorial Chair in Diabetes Research.

“Leuk”ing for a Cure — Dr. Ulrich G. Steidl had received an award of $1.8 million from The National Cancer Institute to study the role of a specific gene, HLX, in causing acute myeloid leukemia (AML), a cancer of white blood cells characterized by abnormal, rapid growth that interferes with the cells’ normal functions.  The HLX gene encodes a protein that activates other genes (transcription factor); Dr. Steidl previously found that excessive amounts of HLX is associated with AML in both mouse models and in human patients.  With this funding, he will study the mechanisms by which high amounts of HLX initiate AML; the genes that HLX targets for activation, which may work in concert to cause disease; and how HLX might be manipulated to identify possible therapeutic approaches.  Dr. Steidl is assistant professor of cell biology and of medicine and is the Diane and Arthur B. Belfer Faculty Scholar in Cancer Research.

Dr. Kami Kim has been elected as a 2013 Academy Fellow of the American Academy for Microbiology. Fellows of the Academy are elected annually through a highly selective, peer-review process, based on their records of scientific achievement and original contributions that have advanced microbiology. This prestigious honor recognizes Dr. Kim’s significant contributions to the field of microbiology. She is professor of medicine (infectious diseases), of microbiology & immunology and of pathology.

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