In honor of Rare Disease Day, I caught up with some of the wonderful families I’ve met whose children have Leber congenital…
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post Rare Disease Day: What 5 Kids with Low Vision CAN DoRead more
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post Do You Know Genetics?Read more
This week’s guest blog is from University of San Diego senior Courtney Chow. By Courtney Chow The field of genetics has made…
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post A Fruit Fly Love Story: The Making of a MutantRead more
For Valentine’s Day, here is a fly’s eye view of my PhD research on the mutation Antennapedia, which causes fruit flies to…
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post Genetic Testing: Carrier Confusion and Generation ReversalRead more
In the usual trajectory of passing on genetic information, the older tell the younger, when the time is right. Typically, a patient…
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post Another Bump in the Road to Gene Therapy?Read more
I am astonished, once again, by the complexity and unpredictability of science. Last week, a paper in the Proceedings of the…
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post My Cat Has AIDSRead more
Juice was an impulse buy. It was early July 2003, and we were headed to the mall for a gift for Carly…
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post Retinal Stem Cells and Eye of NewtRead more
More than a decade before Sally Temple, PhD, and her husband Jeffrey Stern, MD, PhD, discovered stem cells in human eyes, they suspected…
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post The Crud: Viral or Bacterial?Read more
My immune system is still on hyperdrive from what may have been the flu 3 weeks ago. I qualify my self-diagnosis because…
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post Comparing Adam Lanza’s DNA to Forensic DNA Databases: A Modest ProposalRead more
In 1729, Jonathan Swift of Gulliver’s Travels fame published a satirical essay called “A Modest Proposal.” He suggested that a cure for poverty…
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post The Curious Genetics of WerewolvesRead more
Growing up in the 1960s, I collected monster cards: The 60-foot-man and the 50-foot woman, duplicate bodies gestating in giant seed pods…
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post Gene Therapy for Canavan Disease: Max’s StoryRead more
I’m thrilled about the encouraging gene therapy results just published in Science Translational Medicine from Paola Leone, PhD and Jude Samulski, PhD, colleagues. “Long-term…
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post When An Arm is Really a LegRead more
Flipping the X-ray showed Stefan Mundlos, MD, that his hunch was right – the patient’s arms were peculiar and stiff because the…