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Notre Dame prepares for rare disease conference to recognize rare disease day

| Friday, February 9, 2018

The Boler-Parseghian Center for Rare and Neglected Diseases (CRND) will be hosting a two-day conference dedicated to raising awareness and understanding of rare diseases starting Friday.

According to CRND’s website, the annual conference will feature speeches, forums, interactive stations and other events by a variety of medical and research experts from across the nation. Kasturi Haldar, the director of CRND, said the meeting brings together a convergence of researchers, students, trainees and patients.

“There are 7,000 rare and neglected diseases as defined by U.S. federal guidelines, and so what this means is one in 10 people suffer from a rare and neglected disease,” Haldar said. “These diseases are very poorly understood, so there is need to increase awareness, there is need to understand them better and there is a very large unmet need to develop therapies for these diseases.”

Because of the large number of rare diseases, the conference is intended to touch on “reasonably broad areas,” Haldar said, such as brain afflictions, blood and lung disorders.

“Mechanistically, there’s a huge amount of discovery because [rare diseases] are so under-researched, so it’s a great place for students and trainees who want to understand how a disease is caused but then also for students who are interested in careers in medicine or biology or research in general,” she said.

The keynote speakers, Haldar said, are Nicole Boice, the founder and CEO of Global Genes, and Rob Long, a former college football player who survived a rare brain cancer and is now the director of strategic development for Uplifting Athletes.

“Really there’s a tremendous sense of hope and excitement,” Haldar said. “We have seen a lot of progress in the development of programs and rare and neglected disease here at Notre Dame, but also nationwide and in the world.”

Launched nine years ago as a lunch involving about 20 students, the event has gradually expanded after CRND’s development of an outreach program, Haldar said. By emphasizing the “empowerment of patients” as a major theme for this year’s conference, she said she expects about 170–175 attendees.

“There will be a much larger and integrated focus on patient engagement and the activities of our students,” Haldar said. “We’ve created booths, and at these booths, we have students who are partnering with patients to present their disease, so the students will speak on a molecular genetic basis and the patients will speak to the clinical path that they have been down.”

Another new addition, Haldar said, is that patients will be introducing each session of the conference.

“We’re trying to bring this whole process together, all of the different components that go into supporting and informing rare and neglected diseases research,” Haldar said. “ … The students learn a lot from the patient community, and obviously it’s through the work that the students do that we’re able to support the patients.”

According to the conference’s website, patient advocacy groups on campus will also be in attendance. Senior Hannah Mumber, the co-president of RareND, said RareND will give “teaser talks” and presentations on how the club focuses on rare disease awareness and patient advocacy on campus.

“The conference allows all sectors of the rare disease community to come together to share experiences and recent research,” Mumber said. “ … I expect the atmosphere to be very collaborative and supportive as always and am most excited to meet the patients and their families.”

Junior Megan Crowley, a student who will her share some of her experience of growing up with Pompe disease, will be speaking Saturday after her father, John Crowley, who helped find a cure for Pompe.

Editor’s note: Crowley spoke to The Observer with the assistance of her nurse, Emma Holly, who is quoted below.

“She’s going to talk about growing up and basically how, through her life, her dad has been helping to try and save her life,” Holly said. “A lot of people view her dad as a hero, but to her it’s just her dad, so she’ll be talking about that.”

As it is Crowley’s second year attending the conference, Holly said Crowley hopes more people will attend the conference and that it raises more awareness about rare diseases.

“She thinks it is important that people are aware of rare disease day,” Holly said. “ … If there’s enough people getting behind [a rare disease] and supporting it together, then it really makes it less rare [because] there’s more awareness brought to it.”

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About Kelli Smith

Kelli Smith is a senior at the University of Notre Dame. Originally from El Paso, Texas, she served as Editor-in-Chief at The Observer for the 2019-20 term. She is pursuing majors in political science and television with a minor in journalism. // Twitter: @KelliSmithNews

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