Carney Complex awareness

As we have seen with covid-19, we are all connected – to this world, and each other. The first thing we can do with this connection is be present with it and raise awareness for others. In this simple way we connect and are connected. Today, i am sharing the awareness for a disease that is so rare you have probable never heard of it, and yet…in my family of friends, one complete family has been diagnosed with this tumerous ravaging disease. Its name is Carney Complex.

Jennifer, who has this disease, is now on her 5th year of raising awareness and connecting others for solutions. Become an advocate for this rare disease, by raising awareness, by helping connect people with this disease worldwide. Thank you.

Carney Complex Awareness

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24 April 2020  · Today is Carney Complex Awareness DayFinding the PRKAR1A geneThe PRKAR1A gene is autosomal dominant and approximately 70% of Carney Complex patients have an affected parent. Other patients with the gene are classed as being de novo (a genetic mutation found for the first time in one family member).We were interested to find out more about Dr Stratakis finding the PRKAR1A gene. We spoke to him and he was happy to share it with us.‘My connection with Dr. Carney started by me contacting him, first, in February 1994. A year later, I visited him at the Mayo Clinic (Febr 1995), started collecting families and samples and by 1996, we had our first major paper out in Journal of Clinical Investigation. The PRKAR1A gene was not discovered until March 2000; I found the first mutations on a Sunday that month. The final paper came out in print September 2000 and the discovery was featured on the cover of Nature Genetics which is now framed at my office.’Article in the Nature Genetics, volume 26, September 2000 – kindly provided for us by Dr StratakisJust click ‘continue to website’ on link 🍀…/NG%20paper%20Kirschner…