This is the blog for GW students taking Human Evolutionary Genetics. This site is for posting interesting tidbits on: the patterns and processes of human genetic variation;human origins and migration; molecular adaptations to environment, lifestyle and disease; ancient and forensic DNA analyses; and genealogical reconstructions.

GWHEG figure

GWHEG figure

Monday, November 14, 2016

Fibrodysplasia Ossificans Progressiva - Madeleine Rosenstein

Fibrodysplasia Ossificans Progressiva, or FOP, is a congenital disorder of extraskeletal ossification that affects the soft tissues of the body. This disorder affects 1 in two million people; roughly 285 known cases in the United States. Diagnosed at birth by the hallux abducto valgus deviation hallmark trait, the disease slowly progresses throughout the patient's life. Soft tissues become calcified, leading to trouble moving, breathing and swallowing.

In 2012, the NIH released a study of the involvement of microRNA into the inhibition of BMP (bone morphogenetic proteins) that cause the excess of bone growth. The miRNA, called miR-148a, inhibits the ID proteins, thus decreasing the excessive BMP production. In 2016, a receptor drug called paloveratene is being tested as a "turn-off" signal for excess cartilage production, the first step in FOP prior to bone formation. Using the the miR-148a and paloveratene drug in unison could slow down the progression of FOP throughout their lifetime, however, cannot treat or cure the patient.

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