CDG Archives - Sanford Burnham Prebys

Tag: CDG

Institute News

At a symposium on rare diseases, smiles were in abundance

AuthorScott LaFee
Date

March 28, 2024

Malin Burnham, Debra Turner, Hudson Freeze and David Brenner

Since 2010, we have organized an annual scientific and family conference at Sanford Burnham Prebys that covers multiple rare diseases.

In alternate years, this meeting has focused on Congenital Disorders of Glycosylation (CDG).

Our 2024 meeting this month was a cause for celebration. Partnering with the family support and information group, CDG CARE, the Sanford Children’s Health Research Center and sponsors invited scientists, families and physicians to share their stories – some technical, some heart-breaking, some updates of ongoing therapies and some describing new developments.

Five years ago, there were no therapies; now seven are moving into patients. Celebration indeed.

Our keynote speaker, Joni Rutter, PhD, director of the National Center for Advancing Translational Sciences, part of the National Institutes of Health, commented on our event:  “Meetings that engage clinicians, scientists, advocates and families equally should be the standard. (Our) approach is a model of collaboration and impact.”

In this CDG CARE video of this month’s gathering, you can see the joy, optimism and hope that inspires and helps carry us all. Thanks to everyone for their support. It makes those smiles real.

Institute News

Sharing science and stories at Rare Disease Day Symposium

AuthorGreg Calhoun
Date

March 7, 2024

Rare Disease Day 2024 group photo

The Sanford Burnham Prebys Rare Disease Day Symposium brought patients, families, physicians, scientists, industry experts and advocates together with a focus on congenital disorders of glycosylation.

Sanford Burnham Prebys, in partnership with CDG CARE and the Sanford Children’s Health Research Center, hosted a Rare Disease Day Symposium in San Diego from March 1-3, 2024. The goal of the event was to share the latest scientific developments from researchers studying congenital disorders of glycosylation (CDG), and to foster new perspectives, ideas and collaborations to accelerate the creation and implementation of better therapies and treatment plans for those living with CDG.

CDG is an umbrella term for more than 190 disorders caused by mutations that impair glycosylation; the complex process by which cells build long sugar chains that attach to proteins called glycoproteins. CDG affects fewer than 2,000 children worldwide. When glycosylation is impaired, the sugar molecules on many of the body’s proteins are absent or incomplete, leading to serious, often fatal, malfunctions in various organ systems throughout the body.

Since 2010, Hudson Freeze, PhD, the William W. Ruch Distinguished Endowed Chair, professor and director of the Human Genetics Program, and director of the Sanford Children’s Health Research Center at Sanford Burnham Prebys, has organized an annual Rare Disease Symposium, where scientists, doctors and families gather from around the world to discuss the latest research and meet other families coping with rare diseases.

“At Sanford Burnham Prebys, we’re committed to rare disease research,” says David Brenner, MD, president, CEO and Donald Bren Chief Executive Chair at Sanford Burnham Prebys, during his welcoming remarks. “We believe we can make a unique contribution to society with this work, and in so doing make the world a better place.”

Rare Disease Day Welcome speakers, Malin Burnham, Hudson Freeze, David Brenner

Brenner noted that Rare Research Day marked a time for academic medical centers across the US to celebrate the synergy between patients, families, physicians and scientists that is needed to advance research on all rare diseases, including CDG.

This was reflected throughout the symposium’s schedule and in the tenor of individual presentations. Patients and families were invited to give talks throughout the weekend to discuss the perspective of living with CDG or caring for a family member with CDG. The physicians and scientists who spoke consistently credited the patients and families for all they do to help raise funds and participate in research, including clinical trials that can add more appointments to already challenging calendars and routines.

The family reception on Friday, March 1, concluded the first day of the symposium with a more informal opportunity for patients, families, doctors and researchers to connect and socialize.

“This is the largest meeting we’ve ever had,” notes Freeze. “This gathering is an important part of nurturing the CDG research ecosystem by bringing experts together while also knitting us closer together with the people who really matter – the families.”

The symposium’s many sessions over three days included:

  • Friday, March 1
    • Scientific meeting
      • Introduction and welcome from Sanford Burnham Prebys president and CEO, David Brenner; Malin Burnham and Debra Turner, philanthropists and honorary trustees; and Congressional Representative Scott Peters from California’s 52nd Congressional District
      • Discussion of perspectives, challenges and triumphs led by parents, patients and advocates
      • Sessions on new therapies in development, the potential use of biotin as a treatment for many CDG patients, neurological disease, and gene therapy approaches, among others 
    • Poster session
    • Family reception
  • Saturday, March 2
    • Scientific meeting
      • Keynote address on “Accelerating Treatment and Cures for Rare Diseases” from Joni Rutter, PhD, director of the National Center for Advancing Translational Sciences in the National Institutes of Health
      • Additional conversation about the experiences of parents and advocates
      • Sessions on clinical trial updates; especially strong were drug repurposing efforts leading to new and unexpected potential treatments
    • Doctor-is-in-session
      • Brought together medical researchers, clinicians, advocates, patients and their families for an afternoon of hands-on collaboration in small groups
      • Prior “Doctor-is-in-session” events have led to profound experiences and unlikely partnerships
    • Evening reception
  • Sunday, March 3
    • CDG CARE Scientific and Family Conference
      • CDG clinical care and management sessions included neurophysiology and epilepsy, growth charts and hormonal abnormalities, puberty and bone health
      • CDG research sessions included genetics 101, CDG updates, organoids as disease models and clinical trials as a partnership between physicians and patients, among others
      • CDG resource exchange sessions included educational planning and advocacy, speech and technology, therapy interventions, special needs planning and behavioral health and family planning
Institute News

Hudson Freeze appointed to Distinguished Endowed Chair, thanks to gift from grateful supporter

AuthorSusan Gammon
Date

January 3, 2024

Hudson Freeze, PhD at his desk in his office

An endowed chair is among the highest forms of recognition for a faculty member’s research, teaching and service.

Thanks to a generous gift from Dinah C. Ruch, Professor Hudson Freeze, PhD, director of the Sanford Children’s Health Research Center at Sanford Burnham Prebys, has received the William W. Ruch Distinguished Endowed Chair. The newly created chair will support Freeze’s research on congenital disorders of glycosylation (CDGs) and rare children’s diseases.

Freeze is a world-renowned expert on CDGs, a severe group of diseases that affect fewer than 2,000 children worldwide. He has been working on CDGs for more than 25 years and has worked with hundreds of patients from around the world. The condition occurs when sugar molecules on many of our proteins are absent or incomplete, leading to serious, often fatal, malfunctions in various organ systems throughout the body.

In 2007, Ruch established “The Rocket Fund” to support the heroic battle against heartbreaking rare and neglected children’s diseases. Ruch’s interest in CDG research was a result of her own family’s experience.

“My grandson John, whom we called ‘Rocket,’ was born with a CDG,” says Ruch. “Our doctors were able to quickly diagnose the disease, thanks to Dr. Freeze, who has now become a lifelong friend. Though we weren’t able to save Rocket, we are keeping his legacy alive by establishing this endowed chair to support Dr. Freeze and his commitment to finding a cure.”

Dinah Ruch

Freeze’s impact on the lives of families living with CDG extends well beyond the walls of his lab. Since 2010, he has organized an annual Rare Disease Symposium, where scientists, doctors and families gather from around the world to discuss the latest research and meet other families coping with rare diseases.

“Patients are often diagnosed with rare genetic diseases at birth or in childhood, and families are usually overwhelmed by dealing with the diagnosis and complicated care regimens,” says Freeze. “I’m fortunate to have the opportunity to provide support to help these families through our work at the Sanford Children’s Health Research Center.

“I’m so very grateful to receive this honor from Dinah Ruch—and will continue my life’s work to provide education and resources so that people may live with the highest quality of life possible, and may one day, in fact, thrive.”

Institute News

Hudson Freeze joins experts to discuss testing to help CAD-affected children

AuthorSusan Gammon
Date

November 10, 2023

Hudson Freeze, PhD at his desk in his office

Hudson Freeze joined an international panel of genetics experts on CAD deficiency: Beyond the genetics—a podcast offered by the Journal of Inherited Metabolic Disease.

The researchers shared how clinical and functional genomics tests can accelerate the diagnosis of CAD-deficient patients and enable their timely treatment with uridine, a nutritional supplement that has dramatically improved the lives of other children with the condition.

“The effect of uridine for some children with CAD deficiency is nothing short of amazing. These kids go from bedridden to interacting with people and moving around,” says Freeze, PhD, director of the Human Genetics Program at Sanford Burnham Prebys. 

CAD deficiency is a congenital disorder of glycosylation (CDG), an umbrella term for more than 170 disorders caused by mutations that impair glycosylation; the complex process by which cells build long sugar chains that attach to proteins called glycoproteins.

These tests allow us to identify CAD genetic variants, and to help affected children get the best treatment possible,” adds Freeze.
 

Institute News

Where science meets patients: Sanford Children’s Research Center hosts inaugural symposium

AuthorMiles Martin
Date

May 10, 2023

Sanford Children’s Research Center symposium group photo

The event celebrated 16 years of progress at the Center and connected scientists with the people most impacted by their work.

The Sanford Children’s Health Research Center at Sanford Burnham Prebys recently hosted its first-ever Children’s Health Research Symposium, which brought scientists and families together to learn about the latest research tackling childhood diseases.

“We’re all here because we want to improve the health of children,” said President and CEO David A. Brenner, MD, during his opening comments. “But this event also shows the amazing amount of collaboration and collegiality across San Diego, because we have all types of people together from different backgrounds who want to develop therapies and cures for children affected by disease.”

The Sanford Children’s Health Research Center was established in 2008 with the help of a generous gift from Institute namesake T. Denny Sanford. Since then, the Center has been a world leader in children’s health research.

“T. Denny Sanford made an investment in children’s health 15 years ago, and I think that investment has paid off pretty well so far,” said Center director Hudson Freeze, PhD, in his introduction to the first scientific session. Freeze is among the world’s leading experts on congenital disorders of glycosylation (CDG), a rare group of genetic disorders that can cause serious, sometimes fatal, malfunctions of different organs and systems in the body.

“We’ve published over 600 scientific papers, and about half of those are translational studies, which means they’re helping turn scientific discoveries into real treatments for patients,” adds Freeze.

Professor Hudson Freeze with the Omler family

Professor Hudson Freeze with the Omler family

The day included presentations from researchers at Sanford Burnham Prebys, as well as from other research organizations studying childhood diseases. However, the highlight of the event was the afternoon reception, in which scientists had the opportunity to mingle and share a meal with families affected by rare childhood diseases.

Professor José Luis Millán (center) with the Fischer family (left) and the Britt family (right)

Professor José Luis Millán (center) with the Fischer family (left) and the Britt family (right)

Each researcher briefly introduced the family affected by the illness the scientist studies. This list included many longtime friends of the Institute, such as Damian Omler, who lives with a rare form of CDG; and Morgan Fischer, who was born with soft bone disease. Today, thanks to the help of a drug developed based on the research of Institute professor José Luis Millán, PhD, Morgan is a thriving teenager. This drug is also helping other children living with soft bone disease, including 10-year-old Aubrey Britt, who was in attendance with her family as well.

“Something so important that we keep as a tradition for scientific events at our Institute is to involve families that have been touched by the work of our faculty,” said Freeze. “They’re why we’re all here.”

The full list of talks included: 

Sanford Children’s Health Research Center

  • José Luis Millán, PhD “Developing therapeutics for soft bones and ectopic calcification disorders”
  • Duc Dong, PhD “From hope for few to drug for many—why rare is precious”
  • Evan Snyder, MD PhD “A clinical trial using human neural stem cells for neuroprotection in perinatal asphyxia, a major cause of cerebral palsy in kids”
  • Anne Bang, PhD “Drug screens of human-induced pluripotent stem cell (hiPSC) derived neuronal networks on multi-electrode arrays”
  • Pamela Itkin-Ansari, PhD “Proinsulin misfolding in diabetes”
  • Yu Yamaguchi, MD PhD “Multiple hereditary exostoses—from genetics to potential drug targets”
  • Hudson Freeze, PhD “Fucose therapy: Revising bedrock biochemistry”

Sanford Health

  • David Pearce, PhD “From rare diseases to type-1 diabetes: Research that impacts children at Sanford Health”

Frontiers in Congenital Disorders of Glycosylation Consortium

  • Eva Morava, MD, PhD “Clinical trials in Glyco-land”
  • Ethan Perlstein, PhD “Precision drug repurposing: Patient avatar to pioneer study to Phase 3 trial”

UC San Diego

  • Lars Bode, PhD “Human milk-based therapeutics and diagnostics to protect preterm babies from necrotizing enterocolitis”
  • Stephanie Cherqui, PhD “Hematopoietic stem cell gene therapy for cystinosis: Mechanism of action and clinical trial update”
Institute News

Rare Disease Day gathers scientists, doctors and families

AuthorMiles Martin
Date

March 3, 2022

Large group of people gathered in front of marina at Sunset

The 2022 Rare Disease Day Symposium took place last weekend at the Dana On Mission Bay Resort in San Diego. The event, sponsored by Sanford Burnham Prebys and CDG CARE, brought together researchers, clinicians and families from around the world to discuss new medical breakthroughs and meet other families living with rare diseases.

The 2022 Rare Disease Day Symposium took place last weekend at the Dana On Mission Bay Resort in San Diego. The event, sponsored by Sanford Burnham Prebys and CDG CARE, brought together researchers, clinicians and families from around the world to discuss new medical breakthroughs and meet other families living with rare diseases.

Rare Disease Day is celebrated on the last day of February to raise awareness for rare diseases, defined by the United States government as those that affect fewer than 20,000 people. Although there are more than 7,000 individual types of rare diseases that affect more than 30 million people in the United States, this year’s conference gathered more than 200 people focused on CDG, an extremely rare group of genetic disorders that affect children. 

CDG, which stands for congenital disorders of glycosylation, occurs when sugar molecules on many of our proteins are absent or incomplete. CDG causes serious, often fatal, malfunctions in various organ systems throughout the body.

“This is a chance for the global CDG community to come together, support one another and continue to try to find treatments,” says Hudson Freeze, PhD, director of the Human Genetics Program at Sanford Burnham Prebys. “It’s always my favorite weekend of the year, and I’m thrilled that we’re able to do it again safely.” Freeze’s primary research focus is CDG, and he has personally worked with more than 300 patients. 

Exchanging knowledge
The three-day symposium opened Friday morning with introductory comments from three important figures and philanthropists in Sanford Burnham Prebys’ history: T. Denny Sanford, Malin Burnham and Debra Turner. Congressman Scott Peterson also spoke on the importance of funding medical discoveries. 

“Our job is to make a positive difference. We do that best when we all work together,” said Sanford in his video introduction. “Congratulations on all your work. You make me very proud.”

This year, 19 scientists and clinicians in total spoke on the latest research in modeling, treating and understanding CDG. The full program of presentations can be found here.

Connecting families
Although Rare Disease Day is an important opportunity to share the latest scientific research, one of the highlights of the event doesn’t involve science at all. To provide space for families to take a break from the presentations and socialize, staff and volunteers transformed the Bayside Conference Room of the Dana resort into a child care and respite area packed full of toys and games.

In addition to giving families space to play, Rare Disease Day hosted several group activities for families, including a magic show on Saturday and a surprise visit on Sunday morning from Disney’s Anna and Olaf.

​Longtime friend of the institute Damian Omler, a thirteen-year-old who is the only person living with his rare genetic mutation, had a great time dancing along to “Let it Go” and playing catch with his father, Donnie.

And while the joy in the respite conference room was palpable, there was something else, less tangible, in the air as well: hope.

“Meetings like this bring us hope and help us raise awareness for CDG,” says Donnie. “That gives us a sense of purpose each and every time we attend the conference. And we won’t stop, even 20 years from now.” 

Omler family

Damian Omler and his family, parents Donnie and Gracie and brother DJ, had a great time at Rare Disease Day the year (image credit: CDG CARE)

Institute News

Rare disease in the time of COVID: Damian Omler’s story

AuthorMiles Martin
Date

February 25, 2022

Omler family at Damian's 5th grade graduation

How a one-of-a-kind kid and his family stay connected during the pandemic

Thirteen-year-old Damian Omler is the only person in the world with his rare genetic mutation, which presents him and his parents (Donnie and Gracie) and 11-year-old brother, DJ, with major challenges every day. Damian’s condition—a congenital disorder of glycosylation, or CDG—causes him to have seizures, and requires him to have help with routine tasks such as using the restroom and dressing. And, he must use a wheelchair for mobility.

Despite these obstacles, Damian lives a rich, fulfilling life. But protecting his health during the COVID-19 pandemic threw a major wrench into the Omlers’ routine.

“In the early days of the pandemic, we didn’t know what kind of effect COVID would have on Damian, so we had to take a lot of precautions, including not seeing a lot of family and friends, which was very isolating,” says Donnie. 

“Damian is also very sociable—we call him the hot potato because he just goes from person to person, so the pandemic was hard for him in that way as well,” adds Gracie. “We were so glad when we were finally able to get our family vaccinated so we could be more a part of the community.”

Staying at home had its ups and downs for the Omlers
Although most of us can relate to the isolation of the pandemic, there are unique challenges that come with being a family living with a rare disease during this time. 

“Appointments were so much more difficult for Damian over Zoom,” says Gracie. “I had to help him through his physical therapy, and I was nervous that I might be doing it wrong or even hurting him.”

Despite these complications to Damian’s care, there were some unexpected silver linings to spending more time at home.

“Damian does choir and dance for his electives at school,” says Gracie. “I love that with remote learning I was able to interact with him and the class and learn the dances with him.”

“She definitely got a lot of accolades from the teachers for being one of the parents who participates,” adds Donnie, jovially. 

Returning to Sanford Burnham Prebys’ Rare Disease Day
The Omlers are longtime friends of Sanford Burnham Prebys. They first visited the Institute in 2012, when Damian was 5. Before then, they’d been struggling to find a diagnosis for their son, who’d been missing developmental milestones since he was born. 

With the help of Institute professor Hudson Freeze, PhD, who has dedicated his career to CDG research, doctors were finally able to diagnose Damian’s specific case in 2015. 

“After the diagnosis, we sat and smiled for a long time,” says Donnie. “Just knowing was such a relief.”

Since 2016, the Omlers have also been regular participants in the Institute’s Rare Disease Symposiums, which help patients, researchers and clinicians from around the world connect in order to support one another and learn about the latest advances in rare disease research.

The most recent Rare Disease Day the Omlers attended was in 2020, just before the pandemic took hold. And although the event didn’t take place last year, this year it’s back stronger than ever. And the Omlers can’t wait to be back too.

“Meetings like this bring us hope and help us raise awareness for CDG,” says Donnie. “That gives us a sense of purpose each and every time we go. And we won’t stop, even 20 years from now.” 

The 2022 Rare Disease Day Symposium & CDG/NGLY1 Family Conference will take place February 25–27 at the Dana Hotel on Mission Bay in San Diego. Scientific sessions will be held on the 25th and 26th, and the Family Conference will take place on the 27th.

And if you see a young man acting like a social “hot potato” on the 27th, that’s Damian. He’ll probably say hi to you.

Institute News

One at a time: How a Sanford Burnham Prebys professor changes patient lives

AuthorMiles Martin
Date

February 22, 2022

Hudson Freeze, PhD

Having worked for decades to improve the lives of children with rare diseases, Hudson Freeze is still on the case.

Hudson Freeze, PhD is not your average researcher. His work focuses on congenital disorders of glycosylation, or CDG, a severe group of diseases that affect fewer 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.

Although Freeze is not a clinician, he is deeply involved in identifying these rare CDG mutations, and providing families with answers to what is often a challenging diagnosis. Because CDG is a group of incurable diseases, 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 more than 25 years and has worked with more than 300 patients, and he has kept in touch with many of them over the years.

“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.”

Treating disease with sugar
Although CDG presents as permanent and irreversible mutations, Freeze’s research has been instrumental in discovering an approach to alleviate severe symptoms of CDG—such as seizures—in certain patients. The answer: sugar. Thanks to Freeze and others, there are about 30 patients worldwide who are now taking mannose, a simple sugar molecule, to help alleviate their CDG symptoms.

Today, the strategy of treating diseases with simple sugar molecules is being explored in other glycosylation disorders, as well as less-rare diseases such as multiple sclerosis, cancer and diabetes.

Hudson Freeze, PhD poses with Damian Omler, who has CDG.

Hudson Freeze, PhD poses with Damian Omler, who has CDG.

Rare Disease Day at Sanford Burnham Prebys
Freeze’s impact on the lives of families living with CDG extends well beyond the walls of his lab. Since 2010, he has organized an annual Rare Disease Day Symposium each February, where scientists, doctors and families gather from around the world to discuss the latest research and meet other families coping with rare diseases. Last year, the pandemic forced the Institute to press pause on the event, but this year, Rare Disease Day is back in San Diego and stronger than ever.

“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 Freeze. “It’s always my favorite weekend of the year, and I’m thrilled that we’re able to do it again safely.”

The 2022 Rare Disease Day Symposium & CDG/NGLY1 Family Conference will take place February 25–27 at the Dana on Mission Bay Resort in San Diego. Scientific sessions will be held on the 25th and 26th, and the Family Conference will take place on the 27th.

Register Here

Institute News

Fighting rare diseases: Finding treatments and bringing hope to families

AuthorMonica May
Date

March 23, 2021

Hudson Freeze, PhD and José Luis Millán, PhD

The majority of rare diseases affect children, most of whom have an underlying genetic cause for their condition that is incurable.

The majority of rare diseases affect children, most of whom have an underlying genetic cause for their condition that is incurable.

Often, their own doctors have never heard of their disease, let alone know how to treat it.

But there is someplace they can turn to for help. The Human Genetics Program at Sanford Burnham Prebys provides insights into the genes and environmental factors that play a role in the development of childhood diseases. Their work often leads to better ways to diagnose, treat, and sometimes, even cure children.

On March 18, 2021, two patients whose lives were saved by discoveries made by Hudson Freeze, PhD, and José Luis Millán, PhD, joined the scientists for a conversation about what this work means to them and how their lives have been impacted. Watch the full discussion below.

Institute News

The one-of-a-kind kid

AuthorMonica May
Date

March 16, 2020

Damian Omler and family at his 5th grade graduation

11-year-old Damian Omler is the only known individual with his CDG mutation.

Donnie and Gracie Omler are used to the question, “What’s wrong with your son?” Now, they don’t have to say, “We don’t know.”

While the Omlers knew that something was off when their son Damian started to miss his early milestones—he struggled to sit up, make “goo-goo” sounds and put weight on his legs—a decade passed before they had an official diagnosis.

Doctors suspected Damian had a congenital disorder of glycosylation, or CDG, but couldn’t confirm the mutation type. The family began attending Sanford Burnham Prebys’ Rare Disease Day Symposiums, but unanswered questions made them unsure of how they fit into the CDG community.

Now, the Omler family has answers. Hudson Freeze, PhD, and his team determined that Damian has a never-before-seen type of CDG, now named CDG-GET4. This gene codes for a chaperone protein that guides other proteins to where they need to be in a cell. Freeze’s team found that in Damian’s case, one of these chaperone proteins was almost completely gone.

“After the diagnosis we sat and smiled for a long time,” says Donnie. “Obviously we are not done. But answers give us hope. There might be a treatment or supplement for Damian. We might be able to predict possible complications in the future.”

The Omler’s shared with KPBS how receiving answers changed their life.

Today, Donnie and Gracie focus on giving Damian a fulfilling life. He attends school, where he has friends and participates in sports. He plays with his 9-year-old brother, DJ. He loves rock music—and even attempted to strum a guitar recently. Donnie, a rock lover himself, clutches his heart with joy when describing this development.

Still, the Omlers recognize the challenges that Damian faces. He has seizures, needs help using the restroom and recently got a feeding tube. They attend the Institute’s symposiums to make sure they are up-to-date on information that might help Damian. They also fundraise as much as possible to help researchers do more.

“We are amazed at how much brainpower it takes to find a diagnosis, let alone treat the disease,” says Donnie. “There is no way we could have done this alone. Without these scientists, we would probably still be waiting for answers.”