Teamwork of Scientists and Community Brings Treatment to Fruition
BY LESLEY EARL (NCI) AND EMILY PETRUS (NINDS)
Trip after trip to the doctor. Misdiagnosis followed by confusion. More visits to specialists. Few, if any, answers. For those with a rare disease, this cycle of uncertainty rarely ends even with a diagnosis. Of the more than 6,000 known rare diseases, only 300 have any treatment at all. Nevertheless, with a diagnosis of a rare disorder comes a community of patients and their families, as well as scientists, clinicians, and others, all traveling the same path together.
It was a medical mystery that only the NIH could solve: How a woman was spontaneously cured of a rare disease more than 20 years ago after first being diagnosed. Researchers at the NIH recently unraveled this mystery cure in the journal Cell.
Those of you who tuned into the six-hour PBS documentary Cancer: The Emperor of All Maladies—a Ken Burns production based on a Pulitzer prize–winning book by Siddhartha Mukherjee—may have noticed how closely the history of cancer advances parallels the history of the NIH intramural research program.
Are Environmental Chemicals Making It Harder to Control Our Weight?
BY KELLY LENOX, NIEHS
Although exercising and healthy eating play crucial roles in the fight against obesity, current research is reshaping our understanding of the complex roots of the global obesity epidemic. At the National Institute of Environmental Health Sciences (NIEHS) and elsewhere, scientists are examining the interactions between genetic factors and environmental exposures that may be contributing to the obesity problem.
Insights from Neurosurgeon/Science Journalist Sanjay Gupta
BY SOMA CHOWDHURY (OD) AND LAURA STEPHENSON CARTER
“I don’t think there’s enough science journalism out there, certainly not in the broadcast area,” Emmy Award–winning CNN Chief Medical Correspondent Sanjay Gupta told the crowd that gathered in Masur Auditorium on March 25 to hear him deliver the J. Edward Rall Cultural Lecture. “If it’s done well, it can make a difference in people’s lives.”
Bari Ballew’s (left) investigations on shortened telomeres may lead to a cure for a rare genetic disorder. Barbara Nicol’s efforts to understand the genetics of sex differentiation may shed light on how environmental chemicals do their damage. And Christine Jao’s use of structural biology to learn the secrets of a nasty bacterium may contribute to the prevention of hospital-acquired infections.
NIH research highlights include: a genetic link for a rare intestinal cancer; no evidence of accelerated Ebola virus evolution in West Africa; how developmental signaling is controlled; circulating tumor DNA predicts recurrence of lymphoma; anti-herpes drug may help control HIV; an allergy drug inhibits hepatitis C in mice; and signals from epithelial progenitor cells promote innervation of developing organs.
Human Gene Therapy Trial for Retinoschisis Underway
BY DUSTIN HAYS, NEI
The National Eye Institute (NEI) recently launched the first-ever human gene-therapy trial for the vision disorder X-linked retinoschisis (XLRS). The researchers are conducting the trial at the NIH Clinical Research Center.
The National Institutes of Health has selected 55 talented and diverse students, representing 37 universities accredited by the United States, for the fourth class of its Medical Research Scholars Program (MRSP), its largest class to date.
When United States Senators Barbara Mikulski (D-Maryland) and Ben Cardin (D-Maryland) visited NIH a few weeks ago, they pledged their support for getting more federal funding for biomedical research; to celebrate the 50th anniversary of Nirenberg’s cracking of the genetic code, the National Library of Medicine held “A Tribute to Marshall Nirenberg.”
Congratulations to Alan Hinnebusch (NICHD) and Warren Leonard (NHLBI), who are new members of National Academy of Sciences members; Roger Glass, winner of the 2015 Albert B. Sabin Gold Medal Award; and Michael Lenardo (NIAID) and Wei Yang (NIDDK), who were recently elected to the American Academy of Arts and Sciences.