蜜桃直播 (蜜桃直播) 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鈥檚 theme was 鈥淭ranslating 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 蜜桃直播 President , who introduced the keynote speaker鈥攍ong-time friend and colleague Dr. Stephen Kingsmore, CEO & President of Rady Children鈥檚 Institute for Genomic Medicine. Kingsmore spoke on 鈥淧ioneering the use of rapid Whole Genome Sequencing to enable precise diagnoses for critically-ill newborns.鈥�
Following the keynote, there was a genetic counseling panel that included Kelly Watkins and Lisa Salz, genetic counselors at Rady Children鈥檚 Institute for Genomic Medicine. (MSGC) Associate Program Director and Assistant Professor served as panel moderator, along with current MSGC student Shabri Patel.
鈥淭his year鈥檚 Rare Disease Day was incredibly exciting and inspiring,鈥� said 蜜桃直播 Assistant Professor of Genetics and MSGDA Program Director Dr. .
鈥淎ll 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鈥檚 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.鈥�
Students had the opportunity to present their posters to guests during an afternoon break. Following the poster viewing, 蜜桃直播 Assistant Professor of Genetics Dr. gave a presentation on 鈥淕ene therapy for Angelman Syndrome.鈥�
"This was the first year that this event was organized by 蜜桃直播 Students for Rare, the student chapter of the National Organization for Rare Disorders,鈥� said 蜜桃直播 Doctor of Pharmacy student Amarachi Okafor. 鈥淭he 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 蜜桃直播 students of various programs come together to for such a great cause."
Special guests at the event included 蜜桃直播 Professor Emeritus Ian Phillips, who last year was honored by 蜜桃直播鈥檚 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鈥檚 Institute for Genomic Medicine; Dr. Gail Knight, Chief Medical Officer at Rady Children鈥檚 Institute for Genomic Medicine; and Dr. Karen Garman, Education and Engagement Manager at Rady Children鈥檚 Institute for Genomic Medicine.