Newswise — The 2022 Rare Disease Day Symposium & CDG/NGLY1 Family Conference will take place February 25-27th at the Dana Hotel on Mission Bay in San Diego. The annual event, which was not held in 2021 due to concerns about the COVID-19 pandemic, connects researchers, clinicians, patients and their families from all over the world to connect and learn about the latest research in CDG, a group of very rare genetic disorders that affect children.
“It’s a chance for the global CDG community to come together, support one another, and continue to put our heads together to find treatments,” says Sanford Burnham Prebys professor Hudson Freeze, Ph.D., an expert in CDG. “It’s always my favorite weekend of the year and I’m thrilled we’re able to do it again safely.”
Freeze is not your average researcher. His work focuses on congenital disorders of glycosylation, or CDG, a severe group of diseases that affect less than 2,000 children worldwide. Those conditions occur when sugar molecules on many of our proteins are absent or incomplete. That can lead to serious, often fatal, malfunctions in various organ systems throughout the body.
While Freeze may not be a clinician, he’s deeply involved in identifying these rare CDG mutations, providing families answers to what’s often a challenging diagnosis. Because CDG is an incurable disease, families of children with CDG reach out to Freeze almost weekly seeking help.
“If someone asks for help, I say, ‘Let me try,’” says Freeze. “Any glimmer of hope is a path worth pursuing, anything to make life easier for children with CDG.”
Freeze has been working on CDG for over 25 years and has worked with over 300 patients, and he’s kept in touch with many of them through the years.
In 2010, he began organizing annual Rare Disease Day symposia at Sanford Burnham Prebys. Since then, the event has grown to attract hundreds of clinicians, researchers, and, most importantly, patients and their families each year.
“Not a day goes by when I don’t think of them and their struggles—but mostly their smiles,” says Freeze. “It’s the reason we won’t give up on trying to understand them and maybe even finding treatments.”