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Science AMA Series: I’m Nicholas Katsanis, a human geneticist at Duke, let’s have a conversation about human genetic disorders: facts, dreams, and most definitely the eradication of unicorns, AMA!
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Greetings from sunny Greece, where I am taking a few hours to chat with you about human genetics on reddit. My name is Nicholas Katsanis, but please call me Nico. I am a human geneticist, and the Director of the Center for Human Disease Modeling at Duke University. My passion has always been to understand human genetic disorders all the way from the discovery of genes that cause them to dissecting pathomechanism and thinking about the possibility of developing new therapies. Over the years, my team and I have worked to identify genes that cause a range of disorders, with an emphasis on rare pediatric traits. As part of that journey, we have begun to appreciate how the context of the genome can alter the impact of deleterious mutations and impact clinical outcomes profoundly. In that context, we have also realized how the complexity of the genome poses a real challenge in understanding pathomechanism as well as predicting outcomes for patients; we are working hard to develop new biological tools that can help us interpret the functional consequence of genetic variation. In parallel, we are working to build a path towards integrating the research and the clinical enterprise as a way to improve the impact of genetics in health care. Today, I am happy to field any and all questions about human genetics, from why Mendel’s peas are truly wrinkly to what the major stumbling blocks are to really accelerating the development of therapeutics. I’ll be back at 1 pm ET (10 am PT, 6 pm UTC) to answer your questions, ask me anything!