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ND celebrates Rare Disease Day

Anna Boarini | Tuesday, March 1, 2011

The Center for Rare and Neglected Disease hosted a dinner featuring speakers from different projects centering on rare disease research to celebrate World Rare Disease Day.

Dr. Katsuri Haldar, director of the Center, wants to raise awareness and funds to fight neglected disease.

“There are 7,000 rare diseases, which means one in 150,000 people are affected,” she said. “There are 7 million Americans affected by rare disease and 200 million worldwide.”

Haldar said everyone at the event now has the responsibility to go out and raise awareness about rare disease.

“My charge to this group is to go out and be ambassadors in order to facilitate the process of rare disease research,” she said.

Many different labs, as well as both undergraduate and graduates, attended the event.

Mary Claire Sullivan, a first year MBA student at the Mendoza College of Business, became involved in rare disease research through an interdisciplinary class project that combined science and business. She helped take the research and what is happening in the lab and turning it into a business. Sullivan said her passion is to use business to create social change.

“The body of knowledge and passionate individuals can make an impact for those people that have no hope,” she said.

Aaron Patzwahl is an undergraduate student taking a clinical research class focusing on Niemen Pick Type C disease (NPC). The class analyzes patient data and creates a numerical value that can track the progression of the disease.

“I got interested in the class through [Dean of the College of Science Gregory Crawford] and his bike trip this summer,” he said. “I thought it would be a way to take my science and do something move socially conscious with it.”

Senior Nina Farivari took the clinical research class in the fall of her junior year. She became so interested in NPC that she worked in Dr. Forbes Porter’s lab this summer. Porter — of the National Institutes of Health — is currently running the only clinical trial of NPC in the country.

“For me, it was a way to put a face and a family to the disease system,” she said.

Farivari attended the national conference for NPC last August. Attending the lectures by the leading researchers in the field and getting to see the families outside a clinical setting were the best parts of the conference, she said.

Katherine Byrd, a third year chemistry graduate student, is currently working on synthesizing biochemical tools to help study disease. She, along with other students, is using interdisciplinary techniques to find ways to study and someday possibly treat NPC.

Emmanuel AduGyamfi, a chemistry and biochemistry graduate student, is researching the Ebola virus, a highly contagious disease with an almost 90 percent morality rate during outbreaks.

“We use an interdisciplinary approach to try and understand how the proteins of the Ebola virus replicate,” AduGyamfi said. “Hopefully, we can use our findings for other kinds of rare disease.”