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Vol. LXIII, No. 3
February 4, 2011
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NIAMS Awareness Day
Congressional Aides See NIAMS Scientists in Action
While touring NIAMS laboratories, congressional staffers heard from Dr. Vittorio Sartorelli (r) about how advanced technologies such as those that enable quick analysis of the human genome provide insight towards the understanding and treatment of disease.

While touring NIAMS laboratories, congressional staffers heard from Dr. Vittorio Sartorelli (r) about how advanced technologies such as those that enable quick analysis of the human genome provide insight towards the understanding and treatment of disease.

Congressional staffers recently toured the intramural laboratories at the National Institute of Arthritis and Musculoskeletal and Skin Diseases where they learned firsthand about cutting-edge technology and research advances that have led to significant improvements in patient outcomes. The tour was organized in part by the NIAMS Coalition, a group of more than 70 professional and voluntary organizations.

The Hill staffers were greeted by a number of institute leaders and scientists including Dr. Stephen Katz, NIAMS director, who provided a general overview of the mission and structure of NIH. “We have been trying on many fronts to educate the public in terms of not only what we do at the NIAMS, but also what we do at the NIH,” he said. “It was an excellent opportunity to have the staffers visit and gain an appreciation of how the decisions made here impact local universities and academic health centers.”

The group also heard from Dr. John O’Shea, NIAMS scientific director, about the recent research breakthroughs and opportunities currently under way in the NIAMS intramural program as well as an overview of the new NIH Center for Regenerative Medicine that will focus on induced pluripotent stem cells.

The staffers also toured the NIAMS light imaging section led by Dr. Evelyn Ralston and the Laboratory of Muscle Stem Cells and Gene Regulation led by Dr. Vittorio Sartorelli. Both labs feature new equipment obtained using funds from the American Recovery and Reinvestment Act.

Ralston demonstrated how advanced light imaging equipment can help researchers better understand skeletal muscle cell biology. According to her, the NIAMS microscope facilities “are to a classroom microscope what a smartphone is to an old rotary phone.”

Sartorelli highlighted the latest technology for sequencing the human genome and explained how quickly the scientific capabilities have evolved. “The sequencing of the human genome took 10 years and cost $3 billion,” he said. “This present technology allows us to sequence the human genome in 3 to 4 days for less than $40,000.”

The group then saw how these state-of-the-art technologies enable groundbreaking treatment strategies on the translational research portion of the tour. Dr. Raphaela Goldbach-Mansky, from the NIAMS Pediatric Translational Research Branch, illustrated the work she and her colleagues have conducted regarding the genetic understanding of the recently discovered diseases called NOMID (neonatal-onset multisystem inflammatory disease) and DIRA (deficiency of the interleukin-1 receptor antagonist). Their work has dramatically improved the lives of pediatric patients who have disabling, and often life-threatening, conditions characterized by swelling of the brain, joint abnormalities, debilitating rashes and chronic pain.

Dr. Massimo Gadina, from the NIAMS translational immunology section, who collaborates with Goldbach-Mansky, showed participants how the discoveries in his lab further enhance patient diagnosis and outcomes. After Goldbach-Mansky sees a child who is suffering from an unidentified disease, Gadina studies the youngster at the molecular level.

“We get the samples in the morning,” he said, “and by late afternoon we are able to tell Dr. Goldbach-Mansky, ‘The protein is not there, the RNA is not there…we knew right away that something was up.’”

The half-day event was well received by the staffers, who represented seven different congressional offices. Todd Adams, health legislative assistant for Rep. James R. Langevin (D-RI), said, “It was a pleasure meeting the various scientific directors and having the opportunity to visit the labs. In addition to seeing the practical application of Recovery Act and other investments at work, the tour helped underscore how cross-collaborative biomedical research can translate into real patient outcomes. I look forward to hearing more out of NIAMS in the future.” NIHRecord Icon


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