CoRDS Cast

In this episode, Austin and Alyssa speak with Roberta Smith, the President of the Alagille Syndrome Alliance, and Dr. Kamesh Surendran of Sanford Research.  Alagille Syndrome is a devastating rare genetic disorder that affects multiple organ systems.  Roberta is both a parent of a child affected by Alagille Syndrome, and a tireless advocate who brings a refreshing perspective on advocacy for rare disorders.  Dr. Surendran leads a team of researchers at Sanford who study developmental biology.  One of the main projects of his laboratory is investigating the genetics behind Alagille Syndrome, and they seek to learn more about the kidney phenotype of the disorder.  There is a ton of information in this installment of CoRDS Cast - enjoy!

In this episode, Austin and Ben interviewed Dr. Eric Sid at the NIH's National Center for Advancing Translational Sciences (NCATS) in the Office of Rare Disease Research.  His team has been busy working on a toolkit that rare disease patients or patient groups can use as a guide while navigating their course in developing a registry for their communities.  This is a valuable resource for advocacy groups of any size and is worth checking out!  The toolkit went live on Rare Disease Day 2019 and can be found here: https://registries.ncats.nih.gov.  Thanks for listening, and enjoy this episode of CoRDS Cast!

In this episode, Austin and Alyssa interviewed Bonnie Royster, the Executive Director of the CdLS Foundation, and Dr. Rich Haaland, who serves as the Chair of the CdLS Foundation Research Committee.  You'll learn about the condition, some of the research activities currently going on, and hear from Bonnie and Rich on what the CdLS Foundation does to serve families affected by the syndrome.  Enjoy!

Austin interviews the President & Founder of All Things Kabuki, Rene King, to learn more about the condition and what the group does to raise awareness and advocate for families living with Kabuki Syndrome.  Joining them in the interview is Olaf Bodamer, MD PhD FACMG FAAP.  Dr. Bodamer is the Director of the Roya Kabuki Program at Boston Children's Hospital and leads a team of dedicated scientists and professionals to nurture a better understanding of the disease and develop treatments to better the lives of Kabuki patients.

In this episode, Austin interviews Sharon Rose Nissley and Emily Lemiska from Klippel-Feil Syndrome Freedom about life with Klippel-Feil Syndrome and becoming patient advocates.  The group is also joined by Dr. Philip Giampietro, a medical geneticist and researcher, who has worked closely with both Sharon and Emily in their efforts to draw more of a research focus to Klippel-Feil Syndrome.  Thanks again for listening - enjoy!