9th Annual SBP Rare Disease Day Symposium & CDG Family Conference


Date and time

February 23, 2018 - 9:00 am PST
February 25, 2018 - 5:00 pm PST


The Dana Hotel on Mission Bay

1710 W. Mission Bay Drive
San Diego, CA 92109




  • Hudson Freeze, Ph.D.

Made possible by Presenting Sponsor

Retrophin logo

Congenital Disorders of Glycosylation and Deglycosylation


Sponsorship Opportunities

Speaker Bios/Abstracts

Poster Session

2018 Sponsors

Speaker Videos

Use the playlist menu in the upper left corner of the video window to navigate through the speaker videos.

In 2018, in partnership with CDG CARE and, the ninth annual Sanford Burnham Prebys Medical Discovery Institute's Rare Disease Day Symposium will focus on Congenital Disorders of Glycosylation and Deglycosylation. This joint scientific and family symposium will be held February 23-25, 2018 at The Dana Hotel on Mission Bay in San Diego, CA, with the scientific session on February 23-24, and the family session on February 25. All are encouraged to attend both sessions.

Scientific topics will include:
  1. PMM2-CDG: Overview, Models and Therapies
  2. Other Glycosylation Disorders: Models and Therapies
  3. NGLY1: A Disorder of Deglycosylation

Family topics will include:
  1. Education on the science behind this class of disorders
  2. Resources available for patients and families
  3. Interventional and therapeutic approaches

Scientific and family meetings will be bridged by three interactive events:
  • A poster session on Friday evening—a new opportunity for scientists to present emerging research in Glycobiology.
  • SBP’s innovative doctor-is-in session, where physicians and scientists meet with small groups of like-minded family members in a round-robin format, on Saturday afternoon.
  • Family/Scientist Networking time on Saturday evening.

To learn more about the symposium and family conference, including confirmed speakers and topics, review the preliminary agenda and event information packet, both available for download above. Please note that speakers and topics are subject to change. To facilitate communication between the scientific and family communities, all participants are encouraged to attend the full symposium.

Event Hotel and Accommodations

The room block at The Dana on Mission Bay has sold out. If you need a room at The Dana, please contact Ingrid Chappell directly via email at, and reference CDG Family Conference.

Contact Us

Please note that speakers and topics are subject to change. To sponsor the 2018 event, please contact Amy Zimmon at or (858)646-3100 ext. 3952.


We look forward to your participation!

Last Year’s Event– Alagille Syndrome: New Research, New Hope