Researchers identify new genetic disease that interferes with brain development

Abstract digital stream of DNA code. 3D rendering.

The lab of Hudson Freeze at Sanford Burnham Prebys and an international team of collaborators discovered a new rare genetic disease that interferes with brain development.

The researchers published findings in Human Genetics and Genomics Advances that identify the faulty mutated gene.

By exploring the biochemical consequences of the mutation, the investigators also showed that this typo in the genetic code interferes with normal cellular function.

A better understanding of the new disorder and all of the more than 190 congenital disorders of glycosylation will help provide definitive diagnoses to more patients suffering from rare diseases.

Sanford Burnham Prebys welcomes two new members to its Board of Directors

The Institute has added two new and distinguished members to its Board of Directors: Sheri L. Jamieson and Neil Davis Wachsberger.

Jamieson is a well-known philanthropist and community leader in La Jolla. Currently, Jamieson is a trustee for the UC San Diego Foundation and a member of the La Jolla Playhouse Board of Trustees.

Wachsberger is managing director and co-founder of Market Street Healthcare Properties, an institutional healthcare real estate investment firm headquartered in Newport Beach, California.

David Brenner with Ehtisham Mahmud, Sanjeev Ranade, Alexandre Colas and Kurt Marek

The first “Inside the Science” event at Sanford Burnham Prebys offered a behind-the-scenes look at cardiovascular research. The event featured Institute scientists Alexandre Colas, PhD, and Sanjeev Ranade, PhD, as well as Ehtisham Mahmud, MD, from UC San Diego Health.

Watch recording »

Philanthropy

Philanthropic support empowers us to transform lives by advancing science that matters.

At Sanford Burnham Prebys, philanthropic support is strategically aligned with our highest funding priorities—those that drive innovation and impact.

Robust translational programs that accelerate our most promising findings from the lab toward lifesaving therapies impacting patients.
High-risk, high-reward research that has the potential to revolutionize how we understand and treat disease.
The training and mentorship of exceptional graduate students in our Graduate School of Biomedical Sciences and postdoctoral researchers, who will become the next generation of scientific leaders.
Investment in cutting-edge technologies that unlock new avenues of discovery.

For more information, please visit sbpdiscovery.org/giving.

Events

Join us May 13 for the next Women in Science lecture

The May event features Erica Ollmann Saphire, PhD, MBA, professor, president and chief executive officer of the La Jolla Institute for Immunology, and Kelly Kersten, PhD, assistant professor in the Cancer Metabolism and Microenvironment Program at the NCI-designated Cancer Center at Sanford Burnham Prebys.

Learn more and register »

50^th Anniversary Illumination Gala

October 3, 2026

Join us in celebrating 50 years at our Illumination Gala. Together, we’ll celebrate five decades of incredible achievements and the visionary thinkers and partners who got us here. Our science is fueled by a passion to transform lives.

Come help us celebrate those who dedicated their brilliance, heart and vision to making it possible.

To learn more about the Gala and about sponsorship opportunitites, please visit sbpdiscovery.org/gala.

Celebrating 50 years of discoveries

Stories from translating science into health since 1976

This year marks 50 years of Sanford Burnham Prebys. 🎉🎉🎉

Our Biomarkers series recognizes Sanford Burnham Prebys scientists whose work, here and elsewhere, has measurably changed and improved human health and the world.

Take a look at six scientific changemakers »

In the News

Three-pronged treatment could be more effective against ovarian cancer

The San Diego Union-Tribune discussed recent findings from a research collaboration featuring the Tharp lab at Sanford Burnham Prebys and the Schlaepfer lab at the University of California, San Diego.

Two La Jolla studies shed light on aging and the brain

The San Diego Union-Tribune jointly featured new studies from the Zhang lab at Sanford Burnham Prebys and the Ecker lab at the Salk Institute.

Zhang’s work combined genome sequencing with cellular reprogramming to identify which gene mutation is at fault in a newly discovered disease and study how it causes the symptoms observed in patients.

Colorized scanning electron micrograph of a blood clot, with red blood cells tangled in fibrin, a tough, insoluble fibrous protein that acts like a molecular glue and is essential for clotting and wound healing. Image courtesy of Thomas Deerinck, UC San Diego.