Every day in February, we’re sharing content about rare diseases in anticipation of Rare Disease Day on the last day of the month. Learn how a well-funded health initiative is recognizing the need for rare disease research and empowering patient-led groups to light the spark.
Getting attention and research funding are the twin challenges for small groups of people trying to shine the light on individual rare diseases – of which there are an estimated 7,000.
But a new initiative from the founder of Facebook and his wife, who is a pediatrician, is helping to solve one of those problems by awarding 30 grants - each worth $450,000 - to rare disease organizations. The Chan-Zuckerberg Initiative (CZI) – named for Priscilla Chan and Mark Zuckerberg – has a broad mission to solve problems in four areas: science, education, justice/opportunity and community.
The CZI says its Rare as One Project offers a unique opportunity for patients, researchers and clinicians work together to speed research and accelerate progress in their fight against rare diseases. The two-year grants are intended to help patient-based organizations form a collaborative research network that will include input from clinicians and scientists. See the list of Rare As One Network grantees.
Previously, CZI awarded a $406,000 learning grant to the Castleman Disease Collaborative Network, co-founded by Dr. David Fajgenbaum. Fajgenbaum, who has Castleman Disease, has made it his mission to research and treat the rare condition of the lymph nodes that has similarities to autoimmune disorders and cancers. The young doctor took charge of his own treatment and has been in remission since 2014. He co-founded the Castleman Disease Collaborative Network in 2012 and leads the Castleman Disease Center at the University of Pennsylvania.
“Traditional research and funding approaches are fragmented,” Dr. Fajgenbaum said. “Patients have the power to inspire physicians and researchers, organize networks and contribute data and funds.”
CZI also has shined a spotlight on another Philadelphia-area rare disease organization, producing a video that tells the story of the Calliope Joy Foundation. Maria Kefalas co-founded the foundation in honor of her daughter Cal, who has leukodystrophy, a genetic brain disease in which children lose their ability to crawl, walk, swallow, speak, and laugh. To help other families struggling to cope with the disease, the suburban Philadelphia family started selling cupcakes for $1 a piece.
The money raised helps the foundation to send more families to gene therapy trials, where their children are being cured of the disease before it causes irreparable damage.
“We are not going to be able to save Cal,” Kefalas said, in the CZI video. “But when I see kids running around and singing… that’s what the cupcake money is all about.”
Learn more about Rare as One.