Dr. Stephen Kingsmore, CEO & President of Rady Children’s Institute for Genomic Medicine

13th Annual Rare Disease Day Aims to Translate Genetics into Action

Rare Disease Day Photo Album

Keck Graduate Institute (KGI) hosted its 13th Annual Rare Disease Day on Friday, March 6 with presentations from industry leaders, a genetic counseling panel, and a poster session from students. This year’s theme was “Translating Genetics into Action.” The event served as an opportunity for students, faculty, and guests to collaborate, discuss, and raise awareness for rare disease therapies.

Attendees were officially welcomed by KGI President Sheldon Schuster, who introduced the keynote speaker—long-time friend and colleague Dr. Stephen Kingsmore, CEO & President of Rady Children’s Institute for Genomic Medicine. Kingsmore spoke on “Pioneering the use of rapid Whole Genome Sequencing to enable precise diagnoses for critically-ill newborns.”

Following the keynote, there was a genetic counseling panel that included Kelly Watkins and Lisa Salz, genetic counselors at Rady Children’s Institute for Genomic Medicine. Master of Science in Human Genetics and Genetic Counseling (MSGC) Associate Program Director and Assistant Professor Emily Quinn served as panel moderator, along with current MSGC student Shabri Patel.

“This year’s Rare Disease Day was incredibly exciting and inspiring,” said KGI Assistant Professor of Genetics and MSGDA Program Director Dr. Barbara Fortini.

“All of the speakers, especially Dr. Kingsmore and Dr. Bailus, showcased progress in helping children with rare diseases get off to a better start in life.”

“The panel of genetic counseling experts from Rady Children’s Institute for Genomic Medicine provided insights into how this revolutionary care is delivered to families and their unique perspectives working as part of the healthcare team.”

Students had the opportunity to present their posters to guests during an afternoon break. Following the poster viewing, KGI Assistant Professor of Genetics Dr. Barbara Bailus gave a presentation on “Gene therapy for Angelman Syndrome.”

“This was the first year that this event was organized by KGI Students for Rare, the student chapter of the National Organization for Rare Disorders,” said KGI Doctor of Pharmacy student Amarachi Okafor. “The addition of our annual poster competition allowed students to both raise awareness for a rare disease they were passionate about and to develop their professional skills. As the current president of this student organization, I was so proud to see KGI students of various programs come together to for such a great cause.”

Special guests at the event included KGI Professor Emeritus Ian Phillips, who last year was honored by KGI’s Rare Disease Club for his founding and continuous support of Rare Disease Day.

Other special guests included Dr. Charlotte Hobbs, Vice President of Research and Clinical Management at Rady Children’s Institute for Genomic Medicine; Dr. Gail Knight, Chief Medical Officer at Rady Children’s Institute for Genomic Medicine; and Dr. Karen Garman, Education and Engagement Manager at Rady Children’s Institute for Genomic Medicine.