Jones & Bartlett Learning Medicine Blog

    Leap Year is Also Rare Disease Day!

    Posted by jadef on Feb 29, 2016 2:42:58 PM

    MLTPL_WEBx_RD_AppSale_final2To celebrate this year’s Rare Disease Day, The Tarascon Team is offering a One Day App Sale on all new downloads of our Tarascon Pharmacopoeia mobile app for iPhone, iPad, and Android devices. Enjoy 25% off on Monday, February 29th!

    For this year’s Rare Disease Day, we also wanted to highlight a particularly fascinating uncommon condition. Throughout remote towns in Spain and Ecuador, 350 people are diagnosed with Laron’s Disease—a genetic disorder that stops them from growing over four feet tall. Laron’s Syndrome was discovered in 1950 and all 350 people currently diagnosed with Laron’s are descended from a single ancestor with the mutated gene thousands of years ago. Unlike those with dwarfism, people with Laron’s Disease don’t lack a growth hormone, but instead, have mutations in the GHR gene. This gene triggers the growth hormone receptor that binds to the growth hormone. When the receptor binds to the hormone, it triggers the production of the growth-promoting hormone, insulin-like growth factor 1 (IGF-1). So in this case, the cells are unable to trigger the normal growth and function of different tissues.

    What makes Laron’s Disease particularly interesting for researchers is that those afflicted with this genetic disorder appear to be resistant to cancer, diabetes, and possibly heart disease and Alzheimer’s. In the future, researchers hope to distill the anti-disease properties into a medicine to fight these illnesses.

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