drug repurposing Archives - Sanford Burnham Prebys

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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

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

Sanford Burnham Prebys researchers awarded Curebound grants

AuthorMiles Martin
Date

March 20, 2023

Aninyda Bagchi, PhD, Linda Bradley, Lukas Chavez, PhD, Nicholas Cosford, PhD, and Michael Jackson, PhD

Each year, Sanford Burnham Prebys joins Padres Pedal the Cause, an annual fundraising event that raises money for Curebound which awards collaborative cancer grants in the San Diego area.

These grants include Discovery Grants, which provide seed funds for high-risk/high-reward research in the earliest phases, and Targeted Grants, which are larger awards ($500K) that help translate promising discoveries into treatments for the clinic.

In the 2022-2023 Curebound Research portfolio, five researchers from Sanford Burnham Prebys were awarded grants: Associate Professor Anindya Bagchi, PhD, Professor Linda Bradley, PhD, Assistant Professor Lukas Chavez, PhD, Professor Nicholas Cosford, PhD, and Professor Michael Jackson, PhD

2022 Discovery Grant: Treating incurable pediatric brain tumors 
Bagchi and Chavez will collaborate to advance a new therapeutic approach for medulloblastoma, the most common childhood brain tumor. They will be focusing on a gene called MYC, found only in the deadliest forms of medulloblastoma. This form of brain cancer is currently untreatable, but Bagchi and Chavez recently discovered a molecule that can help control the activity of the MYC gene and potentially inhibit the growth of medulloblastoma tumors. The researcher holds promise to reveal a new treatment approach for this incurable cancer. 

The grant is titled “Decoding the Role of the Long Non-Coding RNA PVT1 in Medulloblastoma.”

2023 Targeted Grant: Discovering a new immunotherapy drug for melanoma
Bradley will be working with Soo Jin Park, MD, from UC San Diego Health to advance a new immunotherapy approach for malignant melanoma. Despite recent advances, this type of skin cancer still causes thousands of deaths in the U.S. each year. The goal of their project is to develop a new drug for melanoma that can reactivate the tumor-killing properties of the patient’s own immune system. This therapeutic approach has the potential to destroy tumors that are resistant to existing therapies, which could help save lives.

The grant is titled, “Advancing Immune Checkpoint Inhibition of PSGL-1 for Treatment of Malignant Melanoma.
 

2022 Discovery Grant: Developing drugs for bone-metastatic prostate cancer
Cosford will work with Christina Jamieson, PhD, from the University of California, San Diego, to advance a new treatment approach for prostate cancer that has spread to the bones. Bone is the most common place for prostate cancer to metastasize, and this form of cancer is currently incurable. The researchers will look for drugs that can kill tumor cells by inhibiting autophagy, a process that promotes tumor progression. The results of the study could identify a new drug ready for clinical trials.

The grant is titled “Pre-Clinical Development of New Autophagy Targeting Drugs for Bone Metastatic Prostate Cancer.”

2022 Discovery Grant: Repurposing drugs for deadly childhood brain cancer
Jackson and Chavez will collaborate to identify new treatment options for ependymoma, an aggressive pediatric brain tumor and leading cause of death among childhood cancer patients. The researchers will screen patient tumor cells against drugs already approved by the FDA for other conditions, looking for drugs that could be repurposed to fight these tumors. Because FDA-approved drugs are known to be safe for humans, this may prove to be the quickest way to help patients currently living with this cancer. 

The grant is titled “High Throughput-Screen for Inhibitors of Pediatric Ependymoma.”