The Partnership Between Rare Disease Families and Researchers: Jennifer Wells and Dr. Maya Chopra

Raise the Line

As we continue our Year of the Zebra focus on rare disorders, we’re going to focus on the productive relationships that can develop between the families of children with rare diseases and the researchers who are trying to develop treatments and cures. Join Raise the Line host Lindsey Smith as she explores the various dimensions involved with Jennifer Wells, whose young son has a neurodevelopmental syndrome called CAGS (Chopra Amiel Gordon Syndrome) and her son's physician, Dr. Maya Chopra, a clinical geneticist who co-discovered the gene in question and who is leading an international study on CAGS. “It's so important as researchers that we engage and include families in our research design and methodology so we understand what are the most relevant and meaningful endpoints that we're going to use for trials,” explains Dr. Chopra, director of Translational Genomic Medicine at the Rosamund Stone Zander Translational Neuroscience Center at Boston Children’s Hospital. In turn, family members can be a critical connection to the tightly-knit communities that grow up around specific disorders which are eager for the latest information. “As materials become available from Dr. Chopra and her research team, then I try to partner with them to get it out to the community and have those resources available,” says Jenifer. Tune in to this fascinating discussion to learn about other benefits of these relationships, what’s happening in CAGS research, and an approach to research being pursued by Dr. Chopra that will help make small studies more scalable, potentially benefitting multiple conditions at once.

Mentioned in this episode:
Rosamund Stone Zander Translational Neuroscience Center