RARECast

Scott Schliebner, senior vice president and head of the Center for Rare Diseases at PRA Health Sciences, discusses designing patient-centric clinical trials, why it matters, and what sponsors can do to stay focused on patients. @globalgenes #RARECast

Erik Sontheimer, co-chair of the National Institutes of Health’s Somatic Cell Genome Editing Consortium's steering committee, about the program, the challenges it is seeking to address, and it potential to accelerate the development of a new generation of genetic medicines.

Matthew Klein, chief development officer for PTC Therapeutics, disc usses the company’s work in SMA, its move into regenerative medicine, and its efforts to win approval in Europe and the United States for its first gene therapy. @globalgenes #RARECast

Chandler Crews, founder and president of the nonprofit patient organization The Chandler Project, discusses her experiences living with the achondroplasia, her decision to undergo surgery to lengthen her limbs, and how she views new therapies working their way through clinical development that seek to promote growth in people with achondroplasia.

Tom Curran, executive director of the Children’s Mercy Research Institute, about the research program, its ambitious efforts, and it focus on translational research.

Gene therapy researchers Guangping Gao and Phillip Tai discuss viral vectors, the role they play in gene therapy, and the decision process that goes into the selection of a vector of a specific gene therapy.

Sanath Kumar Ramesh, founder of OpenTreatments Foundation, discusses how the foundation’s software platform works, the need it addresses, and how it can accelerate the development of treatments for ultra-rare genetic diseases.

Emmy-winning news and documentary television producer Miguel Sancho and his wife Felicia Morton discuss his new book “More than You Can Handle,” which recounts the couple’s efforts get their son Sebastian diagnosed and treated for a rare and deadly immunodeficiency. They talk about their journey, the strain the experience had on their marriage, and how after a period of relying on the generosity of others they found healing in turning their attention outward to help others.

Fyodor Urnov, director of technology and Translation at the Innovative Genomics Institute, about its efforts to advance genome editing technology, its work on sickle cell disease; and why it is critical for researchers to consider issues like access, affordability, and scalability in developing genetic medicines.

Annie Kennedy, chief of policy and advocacy at the EveryLife Foundation for Rare Diseases, discusses the organization’s new study that finds nearly a $1 trillion economic burden of rare disease in the United States in 2019, the policy implications, and why the numbers are conservative.