Human Genetics

Collaboration helps a young Iranian girl

Collaboration helps a young Iranian girl

Dr. Hudson Freeze and collaborators helped identify the gene mutation responsible for a little girl’s debilitating skin condition and propose a possible solution.

New hope for a rare disease

New hope for a rare disease

Dr. Yu Yamaguchi’s team developed a new model to study multiple hereditary exostoses that will help them better understand the cause of the disease and test new treatments.

Rare disease symposium has uplifting moments

Rare disease symposium has uplifting moments

Kate Fischer and daughter Morgan, who is being treated for a rare disease called hypophosphatasia, attended Sanford-Burnham’s 2nd Annual Rare Disease Day Symposium.

What is “human genetics”?

Our program wants to understand how inherited conditions cause disease. Often these conditions have existed for thousands of years and families have struggled with how to manage their loved ones illness. Parents face family planning decisions and where to turn for answers to many questions. Technological breakthroughs in Human Genetics offer an unprecedented opportunity to provide solid information and guidance.

What is the focus of our program—What questions are
we asking?

We’re puzzled. How do just a few inherited mistakes in DNA completely change the lives of people with genetic diseases? Beyond this understanding, what can we do to improve the lives of those families and their loved ones? Our teams have explained rare diseases and enabled treatments. The discoveries in rare genetic diseases light obscure paths that impact more common disorders. We focus on discovery of new disorders and better understanding of those we already know.

How will our research help patients?

Our research already helps patients because we developed therapies from our fundamental science. Discovery of new genetic diseases has both informed families and provided new research tools and perspectives to the scientific community. We will create disease in a dish models from the patients’ own cells. Dish-based search for therapeutic compounds offers the hope of treatments. Beyond the dish, we develop a broader understanding by studying genetic disorders in animal models such as zebra fish and mice. They help validate the power of these potential therapies. It may be a long road, but we have the heavy equipment and dedication to build it. Let’s get started.

Recent Developments


Children with rare disease CDG don’t have mutation in every cell type

Sanford-Burnham researchers discover that several children born with rare diseases called Congenital Disorders of Glycosylation (CDG) don’t contain the mutation in every cell type—raising new questions about inheritance, genomic sequencing, and diagnostics.  Read More...

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