2020 Rare Disease Day Symposium & CDG Family Conference

Congenital Disorders of Glycosylation
rare disease day symposium logo

Date and time

February 28, 2020 - 8:30 am PST
March 1, 2020 - 4:30 pm PST


The Dana Hotel on Mission Bay

1710 W. Mission Bay Drive
San Diego, CA 92109



Highlights from the event

Highlights from the 2020 Annual Rare Disease Day Symposium are now available online

This year’s event centered on Congenital Disorders of Glycosylation, a rare genetic genetic condition that affects more than 1,500 people worldwide. On behalf of all of us at Sanford Burnham Prebys and CDG CARE, thank you to all of the event speakers, sponsors, medical professionals attendees and CDG families for making the event a huge success!


About the event

We proudly invite you to the 2020 SBP Rare Disease Day Symposium & CDG Family Conference, February 28- March 1, 2020 in San Diego, CA. The 2020 event is co-organized by Sanford Burnham Prebys Medical Discovery Institute and CDG CARE.

This joint scientific and family symposium will be held at The Dana on Mission Bay in San Diego, CA, with the scientific session on February 28-29, and the family session on March 1. To learn more about the symposium and family conference, including confirmed speakers and topics, click the red button below.

Symposium Agenda

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.

Poster Session


The 11th Annual SBP Rare Disease Day Symposium will focus on Congenital Disorders of Glycosylation.


Program and Speakers

Keynote Address
  • Randy Schekman
    Nobel Laureate, UC Berkeley
    "Sorting of proteins and RNA by extracellular vesicles"
Invited Speakers
  • Heather Flannagan-Steet
    Greenwood Genetic Center
    "PMM2 in zebrafish"
  • Peter McWilliams
    GlycoMine, Inc.
    "Mannose-1-P replacement therapy"
  • Eva Morava-Kozicz
    Mayo Clinic
    "The Growing CDG Network"
  • Mercedes Serrano
    University of Barcelona
    "Clinical trials in CDG"
  • William Brucker
    Harvard University
    "Acute illness and shock in CDGs"
  • Lynne Wolfe
    "CDG and the Undiagnosed Disease Program"
  • Taroh Kinoshita
    Osaka University
    "Treatment of GPI Disorders"
  • Clement Chow
    University of Utah
    "PIGA in Drosophila"
  • Qi Lu
    Atrium Health
    "Ribitol therapy in FKRP muscular dystrophy"
  • Jeffrey Chamberlain
    University of Washington
    "Gene therapy for FKRP"
  • Marjan Huizing
    "ManNAc therapy in GNE myopathy"
  • Yin Dong
    Oxford University
    "DPAGT1 in CDG and myasthenic syndromes"
  • Ethan Perlstein
    Christopher and Dana Reeve Foundation
    "PMM2 small molecule therapy"
  • Richard Cummings
    Harvard University
    "Functional Glycomics and CDG"
  • Francois Foulquier
    University of Lille
    "Mn2+ transport in CDGs"
  • Kent Lai
    University of Utah
    "Mouse models of PGM1-CDG"
  • Vladimir Lupashin
    University of Arkansas
    "Biology of the COG complex"
  • Hudson Freeze
    Sanford Burnham Prebys
    "CDG models and therapy"


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:

  1. A poster session on Friday evening where scientists and clinicians present emerging research in Glycobiology and CDG
  2. Sanford Burnham Prebys’ innovative doctor-is-In session, where physicians and scientists meet with small groups of like-minded
  3. Family members in a round-robin format, on Saturday afternoon
  4. Family/Scientist Networking time on Saturday evening

Daily events

  • Friday
    Scientific Meeting and Poster Session

  • Saturday
    Scientific Meeting and Doctor-is-in-Session

  • Sunday
    CDG Care Family Meeting


NOTE: Daycare tickets are almost sold out. Please email Debi Jeffery at to be put on the waitlist. 

The 2020 SBP Rare Disease Day Symposium & CDG Family Conference will offer a Therapeutic Daycare Program for both children and young adults affected by CDG and their siblings. The Daycare will be open Friday, February 28th – Sunday, March 1st, during Conference sessions. The Daycare will be closed Saturday afternoon during the Doctor-is-in Session. 

Highlights of the Program will include: sensory and educational benefits provided through an interactive group music program; physical interaction and exploration of animals through a wildlife experience; a full-day of occupational therapy and fun through the “Movement, Muscles and Messes” program provided by a local University Pediatric OT Program; and a variety of additional games, activities, free exploration and movie presentations

*Pre-registration for the Daycare must be completed by registering each child using the CDG Patient/Sibling ticket type (Enroll in onsite childcare program; Choose Yes ). Daycare tickets are available on a first come first serve basis, and once the Daycare is full, a waitlist will be created.

Approximately three months prior to the Conference, a staff member will contact all families who have pre-registered to confirm attendance, gather additional information and provide families with the hours, policies and procedures of the Daycare. If you have any additional questions regarding the Daycare, please email Andrea Miller at


Event hotel and accommodations

The Dana Hotel on Mission Bay is located in one of San Diego’s favorite family vacation areas, minutes away from local attractions. A room block is available at the discounted rate of $135/night for a standard room or $155/night for a lanai room. This rate is good for up to three days before and after the symposium and includes free parking and Wi-Fi. To reserve your room, please call (800) 445-3339 and identify yourself as part of the CDG Annual Conference, or reserve online here.

The hotel’s reservation deadline is January 28, 2020 and rooms fill up quickly.


We look forward to your participation!

Previous Rare Disease Day Symposia

2019 2018 2017


All previous Rare Disease Day Symposia