A unique opportunity to hear from Sanford Burnham Prebys scientists and two patients whose lives were saved by their research.
Imagine having a disease so rare it doesn’t even have a name. The majority of rare diseases affect children, most of whom have an underlying genetic cause for their condition that is incurable. Although the number of children living with rare disease is relatively small, the impact on the lives of these patients and their families is profound. Often, their own doctors have never heard of their disease, let alone know how to treat it. But there is someplace they can turn to for help. The Human Genetics Program at Sanford Burnham Prebys provides insights into the genes and environmental factors that play a role in the development of childhood diseases. Their work often leads to better ways to diagnose, treat, and sometimes, even cure children.
Join us as we meet Hudson Freeze, PhD, José Luis Millán, PhD, and two of the patients whose lives they impacted for a conversation on how their research is saving the lives of children facing rare disease.
Recording
Director and Professor, Human Genetics Program
Sanford Children’s Health Research Center
Dr. Hudson Freeze has answered decades of unresolved questions surrounding congenital disorders of glycosylation, or CDG, a rare disease that affects children caused by genetic mutations that disrupt how the body’s sugar chains attach to proteins. Dr. Freeze is the world’s leading expert on glycosylation disorders and his research has led to life-saving treatments for those children and young people with CDG.
Professor, Human Genetics Program
Sanford Children’s Health Research Center
Dr. José Luis Millán was instrumental in finding a treatment for a rare condition called soft bone disease, where children have trouble with the mineralization of bones. This can cause skeletal deformities of the limbs and chest and can result in frequent bone fractures and premature loss of teeth. Dr. Millán’s pre-clinical work to develop an enzyme replacement therapy led to the first-ever treatment for people with pediatric-onset soft bone disease, transforming the lives of infants and children.