The DIY Scientist, the Olympian, and the Mutated Gene
How a woman whose muscles disappeared discovered she shared a disease with a muscle-bound Olympic medalist.
Jill was 25, and a lab director at Johns Hopkins University had heard through the medical grapevine about the young woman who diagnosed her own Emery-Dreifuss. Wanting both a dogged intern and — why not? — a real-life lamin mutant in her lab, the scientist offered Jill a summer internship. Jill’s job was to sift through scientific journals and find any references to diseases that might be caused by a lamin mutation.
.. she showed photos to doctors and told them she thought she had partial lipodystrophy. Just like before, they assured her it wasn’t the case. They jokingly diagnosed her with something a lot more common: intern syndrome. “Where you have a medical student being introduced to a lot of new diseases,” Jill says, “and they keep thinking they have what they’re reading about.”
.. she showed photos to doctors and told them she thought she had partial lipodystrophy. Just like before, they assured her it wasn’t the case. They jokingly diagnosed her with something a lot more common: intern syndrome. “Where you have a medical student being introduced to a lot of new diseases,” Jill says, “and they keep thinking they have what they’re reading about.”
.. Even Garg was startled by what Jill had done. “I can understand a patient can learn more about their disease,” he says. “But to reach out to someone else, and figure out their problem also. It is a remarkable feat there.”
.. For example, research on a rare gene mutation, which gave people such low cholesterol levels it was a wonder they were alive, led to a treatment for high cholesterol. An Alzheimer’s treatment may one day come from ongoing research on a small group of people in Iceland who have a version of a gene that protects their brains in old age.
.. Recently, Rehm and a group of scientists started something called the Matchmaker Exchange, it’s a kind of OkCupid for rare diseases, where people with uncommon conditions can be matched with other people with similar diseases and gene mutations, in the hope that it will spark new discoveries.
.. “Because I had no idea of what I can do with genetic diseases before she contacted me. Now I have changed the path of my team.”
Since Jill first contacted him, he has learned that lamin proteins — which the body creates using instructions from the lamin gene — can interact with SREBP1.