Dear colleagues and friends,

In this issue of Discoveries, we share research about a rare type of childhood disease that had not been diagnosed before; a previously unknown step in regenerating neural stem cells that could lead to correcting abnormal genes in Alzheimer's and Parkinson's diseases; and a possible new treatment approach for Zika infection.

We are also eager for two outreach events coming up in March, where we look forward to sharing our passion for discovery and news and insights stemming from our research with the greater San Diego community. We hope you will join us.

Kristiina Vuori, M.D., Ph.D.

President

Pauline and Stanley Foster Presidential Chair

Diagnosing a rare disease in children

Children born with rare inherited conditions known as congenital disorders of glycosylation, or CDG, often live for years before they receive a diagnosis. These diseases can cause serious, sometimes fatal, malfunctions of the nervous system, muscles and intestines. There are only about 1,800 cases of CDG worldwide which makes the diagnosis difficult. Hudson Freeze, Ph.D., led an international team of scientists and clinicians who diagnosed three children with a previously undiagnosed form of CDG and linked their disease to specific genetic mutations. In addition to broadening our understanding of CGD, the study also points to a diagnostic test that could be used for early detection for this and other rare genetic disorders.

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Visit us on EXPO Day

Saturday, March 3

The 10th annual San Diego Festival of Science & Engineering kicks off March 3rd with EXPO Day, a free, day-long celebration of science, technology, engineering and math geared toward children of all ages and their families. SBP scientists and staff are excited to host a booth for the 2nd consecutive year, and engage hundreds of kids in fun science projects involving fruit flies and more. Come visit us at booth P45-P46.

Learn more >>