NIH Rare Disease Day

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.

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WHIM Syndrome

Whimsically Cured by Chromosome Shattering

BY RACHEL SCHEINERT, NIMH

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.

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From the Deputy Director for Intramural Research

Making Cancer History

BY MICHAEL GOTTESMAN, DDIR

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.

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The Role of Environmental Exposures in Obesity

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.

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Crossroads of Medicine and the Media

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.”

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News You Can Use

Meet the Office of Intramural Research (OIR)

Announcing the New OIR Web Site and Sourcebook

BY MICHAEL GOTTESMAN, DDIR

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Telomeres, Sex, and Hospital Infections

WSA Scholars Discuss Their Research

BY BRANDON LEVY, NIMH

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.

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Research Briefs

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.

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News from the National Eye Institute

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.

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Celebrating Marshall Nirenberg

Marshall Nirenberg: A Tribute to “UUU” and to the Man Himself

BY SOMA CHOWDHURY, OD

Marshall Nirenberg

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Colleagues: Recently Tenured

Meet your recently tenured colleagues: Lisa Cunningham (NIDCD, pictured): Elissa Lei (NIDDK); Martin Meier-Schellersheim (NIAID); Ludmila Prokunina-Olsson (NCI-DCEG); Rajeshwari Sundaram (NICHD).

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NIH Expands the Medical Scholars Program

New Class Announced

BY OFFICE OF INTRAMURAL RESEARCH

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.

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News Briefs

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.”

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Laboratory Confessions

What I Learned on “Take Your Child to Work” Day

BY LIN WANJEK-YASUTAKE

 RHODA BAER, NEI

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Announcements-Kudos

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.

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Announcements

Lectures, Symposia, and other NIH Events.

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