Clinical Center News
Spring 2019

Researchers, Industry, Patients, Parents and Advocates Join Forces on Rare Disease Day at NIH

Panelists at Rare Disease Day on Stage
Moderator Tiina K. Urv, Ph.D. (left), with panelists from Session 1: "The Collective Research Model with the NIH Rare Diseases Clinical Research Network" at Rare Disease Day at NIH on Feb. 28, 2019 (from left to right): Seema S. Aceves, M.D., Ph.D.; Ellyn Kodroff; Michael E. Shy, M.D.; Mustafa Sahin, M.D., Ph.D.; and Steven L. Roberds, Ph.D. Credit: Daniel Soñé Photography.
 

If success breeds success, NIH Rare Disease day is a prime example. With close to 700 in-person attendees and over 1200 livestream viewers, the 12th annual gathering of the rare disease community in recent years had outgrown the Clinical Center's meeting facilities and relocated to the Natcher Visitors Center for the annual February 28 meeting.

Organized by National Center for Advancing Translational Sciences (NCATS) and the Clinical Center, Rare Disease Day brings together diverse government and academic research interests, advocacy organizations along with patients and families all to share highlights in rare disease research, recognize those who are making exceptional contributions, and propose an agenda to keep research moving forward. View photos from the day, online.

Four panels discussed collaborative research arrangements, advocacy group-driven patient registries for efficient patient data collection, challenges faced by the rare cancer community as distinguished from other rare diseases, and task of assuring all patients have access to the latest diagnostic and treatment technologies. Many attendees, patients and researchers alike, come from the NIH Clinical Center, the largest research hospital in America and a place that sees more research diseases cases than anywhere else in the world.

In his remarks, NIH Director Dr. Francis Collins spoke about the obligation of government funded research to include rare diseases in addition to more common conditions and disease states.

"General awareness of rare disease is steadily growing, and that's certainly the case at NIH, where virtually all of our 27 institutes and centers have some investment in rare disease research," Collins said. "They all see this as a remarkable scientific moment to make progress that many didn't quite dream could actually happen such a short time frame. But now it is and I hope you're getting a sense of that today, in terms of the trajectory and forward motion in being able to understand, diagnose and treat these 7,000 or so rare disorders."

Collins added, "We still don't have treatments for nearly enough of these but the path forward seems to be clearer than it has been from my perspective over the last 30 years."

Allied nonprofits and even other Clinical Center departments have taken notice with exhibits to call attention to their purpose and intersection with rare diseases.

"We're here to help bring awareness to the cause," said Paul Melmeyer, director of Federal Policy for the National Organization for Rare Disorders (NORD). "NORD is thrilled to be here at Rare Disease Day NIH plays such an important role in the rare disease area by funding and facilitating the basic and translational research for these diseases – so many still don't have an approved treatment. This is where it begins – where the research starts and the science is understood – and we can get closer to finding a treatment for our patients."

Lindsey Cundiff, associate director of patient engagement at EveryLife Foundation for Rare Diseases added, "We're excited to be here again this year! We combine our effects with NIH each year so we don't overlap each other's activities during Rare Disease Week. Rare Disease Day is a great way to reap up a wonder week of advocacy with the patient community. We're here to learn more about rare diseases – and this is the place to be for that."

Patients and families always have a place at Rare Disease Day. New this year, the Zebbie award (named for the association of rare diseases with zebras) acknowledged entrants and the selected winners for the NCATS ‘Rare Diseases Are Not Rare' challenge, asking for creative and artistic submissions calling attention to the cause. In addition, portraits of children with rare diseases were displayed from the Beyond the Diagnosis campaign.

Dynamic interaction between all stakeholders is part of what makes each Rare Disease Day a day of hope, promise and renewed commitment by all in the rare disease community.

Stories
Trina Davis
Graphic of a cochlear implant
Staff member using a sewing machine
Dr. Saul Rosen
a patient's wristband getting scanned upon checking in or out
Michael Bard, a volunteer medical musician, holds his guitar in a patient room
Nancy Holmfeld
Rare Disease Day logo
People dancing in the atrium
people taking a selfie
Health Information Management Department staff posing for a photo
Young boy holds up a sign that says I love clean hands
FEVS logo
Teresa Bauch showing children cultures of infectious diseases on Take Your Child to Work Day
ePMAP
Staff at the site of a new facility
Woman typing on a Workstation on Wheels computer
Staff view a piece of paper in a kitchen
Men on stage at the awards
Josh and Lisa Danielpour
A redesigned common area in the NIH Clinical Center Edmond J. Safra Family Lodge
Nicholas Rodriquez enjoying the Virtual Reality experience
A young boy voting on gingerbread houses
Retired Navy Capt. Pius A. Aiyelawo speaking at the NIH Veterans Day Celebration Nov. 7
Pediatric patients are given candy by departments at the Clinical Center
a man smiling
Workplace Climate and Harassment Survey. Take the Survey now. Diversity.nih.gov
Karen Baker, Dr. Colleen Hadigan and Victoria Anderson stand in a hallway.
Dr. Daniel Kastner examining a patient at the NIH Clinical Center
A nurse provides Dr. Anthony Fauci a flu shot
Food allergy
NIH staff gather at a relay race at the NIH Clinical Center
Dr. Gilman speaks at a podium
Four people listen to a dietician speak about the Nutrition Department while a employee preps food
Prediction and probability maps from prostate cancer researchers
Dr. Francis Collins, Shawn Thomas and Dr. Jim Gilman stand on stage as Thomas holds a plaque
National Symphony Orchestra performance
Two men up close to the MRI magnet, outside
Dr. Christopher Pleyer, Dr. Kelly Stone and Dr. Robert Lembo stand in front of a screen that says Distinguished Clinical Teacher Award Winner. Stone holds a plaque
Artwork decorates stairwells
Dr. William Ward speaks at a podium and a screen behind him is a poster that says Immunohematology & Blood Transfusion, 27th Annual Symposium
Four students and a teacher hold an oversized check to benefits patients at the NIH Clinical Center
Senior leaders at NIH cut a ribbon opening two hospice suites at the Clinical Center
Laptop with stethoscope nearby
Patient Photography Studio
Dr. Francis Collins, director of the NIH sties in a chair to the left. Barbra Streisand holds a microphone and sits in a chair to the right – speaks to the audience
Dr. James Gilman stands with Alba C. Murphy as they smile and hold a certificate