Sanford Children's Health Research Center Archives - Sanford Burnham Prebys

Tag: Sanford Children’s Health Research Center

Institute News

Hudson Freeze finds life in hot water

AuthorScott LaFee
Date

January 2, 2025

Thermus Aquaticus

Hudson Freeze, PhD, director and professor of the Human Genetics Program, has a starring cameo in Veritasium’s video profile of Kary Mullis, PhD, (1944-2019), an American biochemist who shared the 1993 Nobel Prize in Chemistry for his role in the invention of polymerase chain reaction (PCR), which fundamentally altered biochemistry, the study of DNA and helped lead to the new field of biotechnology.

Freeze, then a undergraduate student in the lab of Indiana University microbiologist Thomas D. Brock, PhD, (1926-2021), discovered a new species of bacteria able to live in 160 degree F. hot springs at Yellowstone National Park. Conventional wisdom at the time said no life could survive such temperatures.

After days of finding nothing in water samples, Freeze said he detected a “little something on the bottom” of a tube. “So I got a little pipette out, took a little drop, put it under a microscope.

“I still get goosebumps, man, I’ll tell you. I still get goosebumps. I looked at it and here were all of these worms, just crawling around. I thought, ‘My God, I’m the first person in the world to ever see this.’

“There was a graduate student in the lab and this graduate student says, ‘Well, I think we ought to call it ‘Hudsoniae Freeziensis.’”

Instead, Brock and Freeze would name the novel bacterium Thermus aquaticus, learn how to cultivate it and publish their findings in 1969. Enzymes from T. aquaticus, which had evolved to function in extremely hot temperatures, would eventually provide a key tool  Mullis deployed to create PCR, which artificially amplifies minute DNA segments.

Institute News

Honoring Hud Freeze and colleagues for literally writing the book on glycobiology

AuthorScott LaFee
Date

November 11, 2024

glycobiology - Hudson freeze

Glycobiology is the study of the structure, biosynthesis and biology of glycans — carbohydrates or sugars that cover the surfaces of all cells and many proteins.

In recent years, understanding and recognition of the importance of glycans has grown dramatically.

They are, among other things, critical to the maintenance of cell and tissue structure and integrity. Their dysfunction is linked to a growing list of human diseases. They have played surprising roles in human evolution.

Beginning in 1999, a cohort of researchers working in emerging field of glycobiology created the first textbook on the subject: “Essentials of Glycobiology.”  The fourth edition was published in 2022.

The Society for Glycobiology recently honored the editors for their ongoing work with its 2024 Distinguished Service Award. Among the honorees, Hudson Freeze, PhD, director of the Sanford Children’s Health Research Center at Sanford Burnham Prebys and a renowned expert in congenital disorders of glycosylation, a group of rare metabolic disorders that primarily afflict children.

glycobiology cover 2022
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

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

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

Former postdoc Suzanne Graham now leads business development at diagnostic company

AuthorJessica Moore
Date

July 8, 2016

Suzanne Graham

Suzanne Graham, PhD, did postdoctoral research at SBP from 2004-2012, during which time she worked in two labs. With Fred Levine, MD, PhD, professor and director of the Sanford Children’s Health Research Center, she studied cell cycle control in pancreatic beta cells, and with Rolf Bodmer, PhD, professor and director of the Development, Aging, and Regeneration Program, she explored how metabolic syndrome affects heart function. She has served as senior manager of business development at Genection, which develops and sells genetic tests, in San Diego since June 2012.

What’s your job like— what do you do every day?

I’m responsible for managing relationships with clients (generally pharmaceutical companies)—making sure we’re getting the right data to them, answering their questions, and trying to get more business.

What drew you to business development?

I’m more sociable than the average R&D scientist—I wanted to be involved in lots of conversations, interfacing with all parts of the company.

What do you enjoy most about it and why? 

It’s exciting to help our clients find tools that help them meet their goals. For example, if a company is running a trial of a drug and they can tell it’s working for some patients but not others, I can help them either find a diagnostic test or work with our company to make one that helps them identify the likely responders.

Plus, since I’m working in industry, everything moves quickly. It’s really rewarding to see things through to completion.

What do you hope to accomplish in your career? 

Since I’m familiar with how genomics fits into pharmaceutical development, I’d love to move to a pharma company in a strategy role to help them expand into that area.

What did you gain from your postdoc experience at Sanford Burnham? 

My scientific training is instrumental in my work—it really helps me understand and define the questions our clients have, which is crucial for finding the right solution.

How did you find your first job after your postdoc? Was it challenging? 

I used a job placement company because it is VERY hard for postdocs to get into industry. They helped make my resume convey my skills in a way that speaks to biotech companies, understand what kind of jobs to look for, and create a strategy to connect with potential hirers.

What advice do you have for current postdocs looking for a job?

PhD scientists can fulfill a lot more roles than they might think. Almost any job related to biotech benefits from a deep understanding of science—even designing websites or doing social media for executives.

Institute News

A new way to generate insulin-producing cells in type 1 diabetes

Authorsgammon
Date

July 31, 2014

Header image

A new study by researchers at Sanford-Burnham Medical Research Institute (Sanford-Burnham) has found that a peptide called caerulein can convert existing cells in the pancreas into those cells destroyed in type 1 diabetes—insulin-producing beta cells. The study, published online July 31 in Cell Death and Disease, suggests a new approach to treating the estimated 3 million people in the U.S., and over 300 million worldwide, living with type 1 diabetes. Continue reading “A new way to generate insulin-producing cells in type 1 diabetes”