Human Genetics Program - Sanford Burnham Prebys

Human Genetics Program

A child and mother and toured through a lab with Duc Dong, PhD

Harrows of Heredity

Most genetic disorders are present from birth. Fortunately, they are also exceedingly rare, perhaps affecting only one person in every several thousand or million.

Some are well known, such as sickle cell anemia and cystic fibrosis, but others are so infrequently seen or documented by clinicians that there may only be a handful of known cases in the world or in history. 

Whether a genetic disease afflicts thousands or a single person, it poses distinct and daunting  challenges for patients, their families and caregivers, not least that the average time it takes for most patients with a rare disease to get a correct diagnosis is nine years. We strive to shorten that diagnostic journey and point toward potential treatments.


Director’s Statement

“We want to better understand some of the many rare diseases we already know (approximately 7,000) and identify for the first time new genetic disorders that lack names but not victims. Using a variety of animal models, stem cell technologies and patient samples, we peer into the pathological mechanisms of genetic disorders for answers that will lead to clinically useful diagnostic tests and novel therapies. Strong relationships with and advocacy for patients and their families is a foundation of our work, and every year we bring together scientists, patients, families and advocates to share news of the latest discoveries, clinical advances and listen to their concerns. With their help, we build momentum and progress for those whose conditions are unknown to most people. ”

Portrait of Hudson Freeze, PhD
Hudson Freeze, PhD Program Director

Recent Publications

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