Hudson Freeze Archives - Sanford Burnham Prebys
Institute News

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

AuthorSusan Gammon
Date

January 3, 2024

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 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

Sanford Burnham Prebys raises flag for Pride Month

AuthorMiles Martin
Date

June 13, 2022

The ceremony featured speakers from the Institute and was the first formal LGTBQ+ Pride event to be held on campus.

Scientists and staff from across the Institute gathered to celebrate LGBTQ+ Pride at Sanford Burnham Prebys by attending a Pride flag raising ceremony. Our employees spoke to the importance of inclusion in STEM, and the Pride flag was hoisted from the main campus flagpole. 

“By supporting LGBTQ+ and other underrepresented groups, institutions signal that they are open to different viewpoints and people, which is crucial,” says Luca Caputo, PhD, a postdoctoral fellow in the lab of Pier Lorenzo Puri, MD Caputo has been heavily involved in the Institute’s DEI initiatives, and he is also a co-founder of the Queer Science Society, an organization that raises awareness on issues facing LGBTQ+ scholars in STEM. 

“Having a celebration such as the Pride flag ceremony here at Sanford Burnham Prebys helps us support LGBTQ+ scientists at the Institute and beyond,” he adds. 

After an introduction by Alessandra Sacco, PhD, Caputo spoke about the importance of Pride Month and highlighted the need to promote inclusion and diversity in STEM. 

“This is just the first step in the right direction of making Sanford Burnham Prebys a truly inclusive campus and Institute,” he said during his remarks. “I and others on campus are going to hold [our Institute] accountable for numerous steps that are necessary to create a real welcoming and supportive environment, not just for queer scholars but for all underrepresented groups.”

In addition to these comments, Caputo shared his personal story as an LGBTQ+ scientist and briefly described the “invisible minority” phenomenon for LGBTQ+ scientists. This term refers to the fact that the LGBTQ+ community is often excluded from studies aimed at understanding diversity in STEM.

“The lack of inclusion in demographics has a profound effect on efforts to increase equity and inclusion for the LGBTQ+ community” says Caputo. “Many undergraduates do not know or have access to a single LGBTQ+ scientist.”

After Luca told his story, Professor Hudson Freeze, PhD spoke to the spirit of inclusion that Sanford Burnham Prebys was founded on. He also mused on the future of inclusion at the Institute.

“This [flag raising] is a good start, but it’s not the end – We have to keep this going,” Freeze said during his remarks. 

And while this was the first formal Pride event to be held at Sanford Burnham Prebys, it certainly will not be the last.

“Pride means freedom. Pride means hope that future generations of LGBTQ+ people won’t have any doubts about themselves and their worthiness to be in STEM,” says Caputo. “Supporting LGBTQ scientist is simply the right thing to do.”

Institute News

Rare Disease Day gathers scientists, doctors and families

AuthorMiles Martin
Date

March 3, 2022

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

Sanford Burnham Prebys scientist joins historic effort to help children with rare disease

AuthorMonica May
Date

October 3, 2019

Hudson Freeze, PhD, professor of Human Genetics at Sanford Burnham Prebys, has joined a historic effort that establishes—for the first time—a nationwide network of 10 regional academic centers, Sanford Burnham Prebys researchers and patient advocacy groups to address decades of unresolved questions surrounding congenital disorders of glycosylation, or CDG, a rare disease that affects children. The consortium is funded by a $5 million, five-year grant from the National Institutes of Health (NIH). 

“We are extremely pleased that the NIH is investing in an initiative that will improve the lives of people affected by CDG,” says Freeze, who leads efforts to develop and validate disease biomarkers that will aid in diagnoses, and measuring treatment benefits during clinical trials. “Although globally the number of people living with CDG is relatively small, the impact on the lives of these individuals and their families can be profound. We look forward to working with the patients, families, physicians, scientists and other stakeholders focused on this important study.”

CDG is caused by genetic mutations that disrupt how the body’s sugar chains attach to proteins. First described in the 1990s, today scientists have discovered more than 140 types of mutations that lead to CDG. Symptoms are wide-ranging, but can include developmental delays, movement problems and impaired organ function. Some children may benefit from a sugar-based therapy; however, developing treatments for those who need alternative treatment options has been hindered by a lack of natural history data—tracking the course of the condition over time—comprehensive patient registry, and reliable methods to establish the CDG type.

Working together, the consortium will overcome these hurdles by: 

  • Defining the natural history of CDG through a patient study, validating patient-reported outcomes and sharing CDG knowledge 
  • Developing and validating new biochemical diagnostic techniques and therapeutic biomarkers to use in clinical trials 
  • Evaluating whether dietary treatments restore glycosylation to improve clinical symptoms and quality of life

Freeze will lead the efforts to develop and validate biomarkers for CDG, working alongside the Children’s Hospital of Philadelphia and the Mayo Clinic. The principal investigator of the CDG Consortium Project is Eva Morava, MD, PhD, professor of Medical Genetics at the Mayo Clinic. The patient advocacy groups involved are CDG CARE and NGLY1.org. 

Sanford Burnham Prebys and CDG Care will host the 2020 Rare Disease Day Symposium and CDG Family Conference from February 28 to March 1 in San Diego, which welcomes researchers, clinicians, children with CDG and their families, and additional CDG community members. Register to attend. 
 

Institute News

Year in review: SBP highlights from 2018

AuthorMonica May
Date

December 17, 2018

The science never stops at Sanford Burnham Prebys Medical Discovery Institute (SBP), and 2018 was no different. 

From an Alzheimer’s breakthrough to advancing promising medicines for pancreatic cancer and autoimmune disorders, our hardworking scientists were busy at the bench and beyond. As the year comes to a close, we are sharing a selection of our most widely read stories from the past 12 months. 

1.    Scientists uncover a potential near-term treatment for Alzheimer’s disease 
Jerold Chun, MD, PhD, and his team revealed that never-before-seen DNA recombination in the brain is linked to Alzheimer’s disease. The research suggests that existing FDA-approved drugs to treat HIV might hold potential as near-term Alzheimer’s treatments and provide an explanation for why previous clinical trials for Alzheimer’s disease have failed. The study was published in Nature.

2.    SBP women awarded American Heart Association Fellowships
The American Heart Association awarded grants to three SBP scientists. This funding advances projects that align with the organization’s mission of building healthier lives, free of cardiovascular disease and stroke. 

3.    Compound discovered at SBP enters Phase 1 clinical trial for pancreatic cancer
Solid tumors are often surrounded by thick fibrotic walls, making it hard for treatments to get access to the tumor cells. CEND-1, a drug candidate discovered in the lab of Erkki Ruoslahti, MD, PhD, has entered a Phase 1 clinical trial for metastatic pancreatic cancer. CEND-1 streamlines the delivery of cancer drugs deep into tumors. CEND-1 was licensed to the private company DrugCendR Inc. in 2015. 

4.    Scientists solve a medical mystery
Hudson Freeze, PhD, and his team joined collaborators around the globe to crack the case of Saul-Wilson syndrome, a rare form of dwarfism with an unknown cause. Now, the 14 known people with the syndrome and their families have answers: A gene alteration that affects the cell’s protein packager, the Golgi complex, causes the condition. 

5.    Immune therapy developed through SBP and Lilly collaboration enters Phase 1 clinical trial
A therapy that arose from a research collaboration between Eli Lilly and Company (Lilly) and SBP entered a Phase 1 clinical trial. The therapy is a biologic that inhibits inflammation—a common response linked to autoimmune diseases such as rheumatoid arthritis, lupus and inflammatory bowel disease.

Interested in keeping up with SBP’s latest discoveries, upcoming events and more? Subscribe to our monthly newsletter, Discoveries.

To help SBP scientists focus on pioneering research that transforms human health, donate now. 

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Parents gain answers about their child’s mysterious condition, thanks to SBP scientists

AuthorMonica May
Date

December 11, 2018

For the parents of a six-year-old Hispanic boy and a seven-year-old Qatari girl, answers remained elusive. Both children had alarming symptoms, including developmental delays, uncontrollable seizures and “floppy baby syndrome” (hypotonia). But despite doctors’ best efforts, the origin of the disease remained unknown. 

Now, these two children are linked by rare mutations in a gene called FUK—providing their families and doctors a better understanding of the cause of their medical conditions. Using biochemical techniques to analyze the boy’s cells, Sanford Burnham Prebys Medical Research Institute (SBP) scientists determined that a malfunctioning enzyme called fucokinase is to blame—caused by a mutation in the FUK gene. Because cells from the girl weren’t available, computer modeling was used—and indicated this same mutation likely caused the disease. The study published in the American Journal of Human Genetics.

Like a molecular spark plug, the fucokinase enzyme ignites one step in a cellular communication cascade—which culminates in the linkage of a sugar, fucose, to another carbohydrate. This final fucose-carbohydrate product is important for immune system regulation, tissue development, cell adhesion (“stickiness” to the environment) and more. 

Based on these findings, the scientists now know the condition is a congenital disorder of glycosylation (CDG), an umbrella term for disorders caused by abnormal linking of sugars to cellular building blocks, including proteins, fats (lipids) and carbohydrates. Although more than 130 types of CDGs exist, the boy and girl are the only known living individuals who have this mutation. 

“Our hope is that by reporting this information, we will help doctors grant more answers to patients and their loved ones,” says Hudson Freeze, PhD, senior author of the paper and director and professor of the Human Genetics Program at SBP. “Based on our findings, genetic databases around the world will now note this mutation causes disease—a potentially life-changing shortcut in the quest for answers.” 

The researchers analyzed skin and immune cells that were collected from the boy. They observed reductions in the amount of the fucokinase enzyme—as much as 80 percent in skin cells and more than half in immune cells, compared to a control protein. Consistent with these findings, downstream products typically created by fucokinase weren’t incorporated into the final fucose-carbohydrate product—indicating the enzyme was not working.

Because cells from the girl were not available, the scientists used computer modeling to predict the impact of her FUK gene mutation. This approach indicated the mutation occurs at an important site on the enzyme that would likely cause disease.

“We know that dampening down the activity of the FUK gene is linked to metastatic cancer—a deadly event that occurs when tumors gain the ability to travel throughout the body,” says Freeze. “In addition to providing long-awaited answers to these families, these findings could help us understand how certain cancers spread throughout the body, including liver, colorectal and skin cancers (melanoma).” 

Both children were identified through the National Institutes of Health’s Undiagnosed Diseases Network, which is designed to accelerate discovery and innovation in the way patients with previously undiagnosed diseases are diagnosed and treated. 

Additional study authors include: Jill Rosenfeld, Lisa Emrick, MD, Lindsay Burrage, MD, PhD, Brendan Lee, MD, PhD, William Craigen, MD, PhD, Baylor College of Medicine; Mahim Jain, MD, PhD, Johns Hopkins School of Medicine; David Bearden, MD, University of Rochester School of Medicine; and Brett Graham, MD, PhD, Baylor College of Medicine and Indiana University School of Medicine. The study’s DOI is https://doi.org/10.1016/j.ajhg.2018.10.021

Research reported in this story was supported by National Institutes of Health (NIH) grants R01DK099551, U01HG007709, and K08DK106453; Baylor College of Medicine Intellectual and Developmental Disabilities Research Center (U54 HD083092), Diana & Gabriel Wisdom and the Rocket Fund. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH. 

Interested in keeping up with SBP’s latest discoveries, upcoming events and more? Subscribe to our monthly newsletter, Discoveries.

Institute News

Meeting the “man who saved my son’s life”

AuthorMonica May
Date

November 15, 2018

“I’ve got really cool stuff in my body,” 6-year-old Baraa Ismail proclaimed to Hudson Freeze, PhD, professor in the Human Genetics program at Sanford Burnham Prebys Medical Discovery Institute (SBP).

And, indeed, he does. 

Baraa and his mother, Sara, didn’t know it at the time, but he was born with a rare change in his DNA that interfered with his body’s ability to attach a sugar to proteins—altering the course of his life. 

From birth, Baraa struggled with eating. He dealt with upset stomachs and lethargy, which is unusual for a young child. Sara searched high and low for an answer, but doctor visit after doctor visit, year after year, Baraa remained undiagnosed. 

After four years of uncertainty, Sara connected with Dr. Tawhida Yassin Abdel Ghaffar. She suspected a rare condition called congenital disorders of glycosylation (CDG) and ordered a test. Her instincts were correct—Baraa had one form of CDG. More than 130 types of the condition exist.  

In addition to working with her doctor, Sara was introduced to a new online community of parents and individuals with CDG. It was through a private Facebook group that she connected with another parent whose child has CDG. He told her, “You have to talk to Hudson Freeze at SBP.”

For more than three decades, Freeze and his team have studied CDG with the ultimate goal of developing a treatment. When Freeze heard from Sara, he recommended that she talk to her doctor about giving Baraa mannose, a nutritional supplement. 

Years ago Freeze helped discover that mannose can treat one specific form of CDG—incredibly reversing symptoms as quickly as days sometimes (note: Freeze is not a medical doctor). But it only works if a person has one kind of mutation; treatments are still limited for the 129 other types of CDG that exist. Freeze reasoned that even if he didn’t have Baraa’s genetic sequence in hand, if the boy had that mutation, the mannose would work. 

Incredibly, it did. Within a month, Baraa’s energy was back. And today, Baraa is a Flash-loving, book-devouring little boy who loves to run and sing. 

Baraa was doing so well that Sara even decided to take a vacation for the first time in years. She and Baraa traveled from their home in Egypt to visit her brother in Irvine, California—which happened to be a short drive from SBP. Sara reached out to Freeze, whom she calls “the man who saved my son’s life,” to see if a visit was possible. Freeze was delighted to meet with her and Baraa and give them a tour of his lab. 

“Really, my role was very small in this story,” says Freeze. “But what this illustrates is the importance information has for these families. A simple piece of information changed someone’s life. We’d love to grow so we can eventually become a true hub of information for these families—and help even more people like Sara and Baraa.”  

Institute News

Professor Hudson Freeze helps dreams come true for rare disease patient

AuthorHelen Hwang
Date

February 27, 2018

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

A bunch of scientists walk into a brewery…

Authorkcusato
Date

April 7, 2016

A bunch of scientists walk into a brewery…

It sounds like the beginning of a joke, and there were plenty of smiles at the Karl Strauss Brewery in downtown San Diego on April 5th, but they were on the faces of the people there to see science and art come together, as part of a BioArt exhibit. Continue reading “A bunch of scientists walk into a brewery…”