Features

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.

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.

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.

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.”

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.

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.

Celebrating Marshall Nirenberg

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

BY SOMA CHOWDHURY, OD

Marshall Nirenberg

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.

LASKER CLINICAL RESEARCH SCHOLARS

Meet all the Lasker Clinical Research Scholars: Nehal Mehta (NHLBI); Jessica Gill (NINR); Hans Ackerman (NHLBI); Andrea Apolo (NCI); and Falk Lohoff (NIAAA).