Alagille Syndrome
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Nonprofits bridge gap between patients, researchers in rare disease community

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Rare disease can’t be looked at in isolation, said Bruce Friedman, president of Team Telomere, a nonprofit organization focused on Dyskeratosis Congenita, a rare genetic form of bone marrow failure, during an ALGSAcademy Podcast.

“You can’t look at any of these things in isolation…without the patient, there’s no research…Without the community, there’s no access and you know, your pharma companies or your scientists, they rely on our patients and families to help them,” he said. I think of it all like a big flywheel, where the patient is in the middle, and then you have all the things around them, whether it’s the care of a giver or the investigators, the doctors, pharma—all those pieces—but it’s really the patient in the middle and the leadership of the organization that creates the momentum for those things to work together and be effective.”

During the podcast, “Community Involvement in Rare Disease Advocacy and Research,” Mr Friedman and Ricky Safer, CEO of PSC Partners Seeking a Cure, a nonprofit focused on primary sclerosing cholangitis, a rare liver disease, sat down with host Roberta Smith, President of the Alagille Syndrome Alliance, to discuss the roles nonprofits and other community-centered groups play in the rare disease space.

“I think all of us have a lot in common in rare diseases,” said Ms Safe. “We as patients and families raise awareness of our disease and all our unmet needs. And I feel like we have a really unique voice to help research priorities. Obviously, we don’t have the medical experience that professionals do, but I think our job is really to bridge the gap between the patient and the researchers and help guide what the researchers are doing.”

Ms Safe said when she first started working with PSC Partners Seeking a Cure developing strong relationships with the physician-researcher community, the pharma community, and the patient and caregiver communities was a priority.

Mr Friedman agreed and highlighted the need to branch out and build connections to adjacent communities, especially when rare disease communities are so small.

“If we don’t do it ourselves, we’re not going to have a large umbrella organization that does it for us,” he said. “We’ve got to advocate to some related medical conditions… there are ties into cancer and, in our case, pulmonary disease and things like that.”

Holding events is a great way to build one-on-one relationships and a sense of community, the group agreed. Mr Friedman said Team Telomere tries to combine family events with their medical advisory board and consortium of doctors to help facilitate the relationship between patients and doctors.

“The families play such an important role,” said Ms Safe. “I mean, obviously they help raise funds; [they] participate in clinical trials. We [also] have a patient registry we want [patients] to join because that has really attracted a lot of pharmaceuticals to study our disease. But as [Mr Friedman] said, it’s these personal one-on-one relationships that make all the difference in the world. I just can’t say enough about how that affects absolutely everyone with this disease, patient, caregiver, wherever you live, whatever age you are, whatever stage of the disease, it helps everybody more than anything.”

The podcast can be listened to here.