Rare Disease Day Archives - Page 2 of 2 - Sanford Burnham Prebys

Tag: Rare Disease Day

Institute News

Professor Hudson Freeze helps dreams come true for rare disease patient

AuthorHelen Hwang
Date

February 27, 2018

Morgan Webb Liddle rides Bailarino, coached by Olympian Steffen Peters

When Morgan Webb Liddle is riding a horse, it’s one of the only times she feels “free,” she says. “I was born to ride,” says Morgan, 25, who uses a wheelchair. Morgan and her mother Merell Liddle flew from Australia to attend SBP’s Rare Disease Day Symposium and Family Conference in February 2018.

During their trip to San Diego, Hudson Freeze, PhD, professor and director of SBP’s Human Genetics Program, arranged for Morgan to meet Olympic equestrian Steffen Peters. When they met, Morgan literally cried tears of joy. Freeze has been working with Morgan’s family to find a treatment for Morgan’s disease.

At Arroyo Del Mar Stables, Morgan received expert dressage coaching from Peters, who won a bronze medal in Rio de Janeiro. Morgan rode on a chestnut beauty named Bailarino, owned by Akiko Yamazaki, who gave Morgan special permission to ride her horse every day while she was attending the Rare Disease conference. Peters, impressed by Morgan’s riding, said, “What you do is much more amazing than what I do.”

Morgan suffers from CDG—which stands for congenital disorder of glycosylation—a disease that disrupts how the body’s sugar chains attach to proteins. Freeze is working on finding a cure for CDG. Liddle is one of the few adult CDG patients since many succumb to the potentially fatal effects of the metabolic disorder as children.

Her mother says, “Morgan has virtually no sense of balance. She does an amazing job just staying on the horse. She is currently working on new ways to ride because she has difficulty seeing the edges of the arena and the letter markers because of her poor peripheral vision.” Nevertheless, Morgan aims to compete in the Para-Olympics one day. Morgan has already won the Australian National Championship for Para-Dressage multiple times.

When Morgan was 14 years old, she was finally diagnosed for CDG after her physical and neurological condition began to worsen rapidly. Knowing the diagnosis was a huge relief for Morgan’s family since doctors were stumped by her illness. Freeze is one of the few experts in the world who helps diagnose and research treatments for CDG patients. “Hud has been amazing,” says Morgan’s mother.

“We share a special kinship,” says Freeze, who grew up with a disabled sister. “When I first met Morgan, she reminded me of my sister.”

For the symposium’s reception, Morgan performed a modern lyrical dance performance, while Freeze sang ABBA’s “I Have a Dream.” As the scientist and patient were preparing for their performance, Freeze said to Morgan, “We share a dream—to find a treatment for CDG.”

Institute News

First scientific meeting on Alagille syndrome sparks hope for a cure

AuthorKristen Cusato
Date

February 28, 2017

Assistant Professor Duc Dong, PhD, (left) with Alagille syndrome patient Kashton (center) and his parents.

“My child is 4 years old. Can we have a playdate?” said one parent of a child with Alagille syndrome to another.

That kind of connection was a bonus of the 8th Annual Rare Disease Day symposium, held on February 24th at Sanford Burnham Prebys Medical Discovery Institute (SBP) in La Jolla.  The focus this year was Alagille syndrome (ALGS), a genetic disorder that affects one in 30 thousand births. ALGS primarily affects bile ducts in the liver, but can also damage the heart, kidney and other parts of the body. It can cause painful body itching as toxins are released into the bloodstream because they’re not absorbed and processed by the liver. Many patients require a liver transplant to survive.

Symposium chair Duc Dong, PhD, assistant professor at SBP, created an event that brought researchers and medical doctors from all over the world together for the first time to talk about new perspectives, ideas and collaborations that offer fresh hope for these patients and their families.

“We want patients and families to know there are a lot of people working on this,” Dong said. “When all these researchers and clinicians come together, we see hope that this disease can be conquered.”

Scientists shared two decades of Alagille syndrome research, including the advances and challenges. Cindy Luxhoj, executive director of the Alagille Syndrome Alliance talked about the Alagile Warriors, a group of patients with the disorder. Some have passed away, and others battle the disease every day. A young woman who has Alagille shared what it’s like to live with the disorder, and how important it is to bridge the gap between patients and researchers.

“That’s what this was all about,” Dong said. “We hope the information that comes out of this meeting pushes us over the edge and help us find a cure for Alagille.”

In photo: Assistant Professor Duc Dong, PhD, (left) with Alagille syndrome patient Kashton (center) and his parents

Institute News

Rare Disease Day gathers patients, clinicians, and researchers to discuss sugar therapy

Authorsgammon
Date

March 2, 2015

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“Treating Disease with Sugar” was the theme of this year’s Annual Rare Disease Day Symposium at Sanford-Burnham, a subject that drew scientists and patients together in an informal setting to share promising research on how sugar may be used to treat certain rare genetic disorders—and some not-so-rare disorders. While sugar may seem like an odd approach, for patients with mutations in the genes that attach sugar molecules to proteins (glycobiology), and sufferers of multiple sclerosis and cancer, the concept is proving both rational and effective. Continue reading “Rare Disease Day gathers patients, clinicians, and researchers to discuss sugar therapy”

Institute News

You’re invited to Rare Disease Day at Sanford-Burnham in La Jolla

Authorsgammon
Date

February 9, 2015

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Did you know that in the United States there are more people with a rare disease than people with cancer and AIDS combined?

Rare Disease Day is an internationally recognized day to raise awareness about rare diseases and their impact on patients’ lives. There are more than 6,000 types of rare diseases, and most of them are genetic disorders that affect children. The term “rare disease” is a designation of disorders that affect fewer than 200,000 individuals. For most rare-disease patients, the rarity of their disorder makes the process of an accurate diagnosis a significant challenge—requiring extensive genetic and biochemical tests. Equally, if not more, challenging is the search for effective treatments to improve the health and lives of those that suffer. Continue reading “You’re invited to Rare Disease Day at Sanford-Burnham in La Jolla”