Hudson Freeze

Sanford-Burnham Medical Research Institute

Location of Event
Sanford-Burnham Medical Research Institute, Sanford Children’s Health Research Center, 10905 Road to the Cure, San Diego, CA 92121

Relevant Website

Rare Disease | Genetic Condition
ERAD Defects in the Cytoplasm: The NGLY1 Story

Date of Event

Name of Event
5th Annual Sanford-Burnham Rare Disease Day Symposium

Is Event Open to the Public?

Event Details

Sanford-Burnham’s successful series of Rare Disease Day symposia is based on the concept that treatment of rare diseases requires participation and exchange among all stakeholders—scientists, physicians, affected patients and their families, support groups, granting agencies, industry, and philanthropists.

This year’s event will be held February 28, 2014 at the Sanford Children’s Health Research Center in La Jolla, CA, and is organized by Hudson Freeze, Ph.D. The topic for the 2014 symposium is “ERAD Defects in the Cytoplasm: The NGLY1 Story.”

This free 1-day meeting includes presentations on fundamental science, clinical perspectives, potential therapies, and new directions for future research. On the following day, patients, their families and physicians will partake in a “doctor-is-in” information exchange to deepen NGLY1 experience and understanding. Additionally, basic scientists will have brainstorming sessions to promote open communication and minimize competition in this fledgling field.

To register (required) for the February 28 on-site meeting or live webcast, please access the event’s registration website at Registration for all events is free. If you have specific questions regarding the event, you may contact the administrative organizer, Amy Zimmon, via email at

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