hypophosphatasia Archives - Sanford Burnham Prebys

Tag: hypophosphatasia

Institute News

Fighting rare diseases: Finding treatments and bringing hope to families

AuthorMonica May
Date

March 23, 2021

Hudson Freeze, PhD and José Luis Millán, PhD

The majority of rare diseases affect children, most of whom have an underlying genetic cause for their condition that is incurable.

The majority of rare diseases affect children, most of whom have an underlying genetic cause for their condition that is incurable.

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.

On March 18, 2021, two patients whose lives were saved by discoveries made by Hudson Freeze, PhD, and José Luis Millán, PhD, joined the scientists for a conversation about what this work means to them and how their lives have been impacted. Watch the full discussion below.

Institute News

SBP scientist honored by the American Society for Bone and Mineral Research

AuthorMonica May
Date

September 28, 2018

José Luis Millán, PhD

José Luis Millán, PhD, professor in the Human Genetics Program at Sanford Burnham Prebys Medical Discovery Institute (SBP), has received the 2018 American Society for Bone and Mineral Research (ASBMR) Lawrence G. Raisz Award for his outstanding achievements in pre-clinical and translational research. 

Millán has dedicated his career to understanding the mechanism of initiation of skeletal and dental mineralization. His pioneering research has led to the first-ever FDA-approved drug for a rare soft bone disease, hypophosphatasia (HPP); and a second drug candidate developed through a research collaboration with Daiichi Sankyo Company, Limited (Daiichi Sankyo) that entered a Phase 1, first-in-human clinical trial in 2017. 

ASBMR’s award is named in honor of Lawrence G. Raisz, MD, a prominent scientist, mentor, teacher and clinician in the field of bone and mineral metabolism. Raisz was a founding member of ASBMR and the first editor-in-chief of the Journal of Bone and Mineral Research. 

“Lawrence G. Raisz deeply influenced the skeletal mineralization field, so it is a true honor to receive an award in his memory,” says Millán. “In accepting this award, I want to thank the many individuals who enabled our achievements—from the National Institutes of Health (NIH), which has generously funded our research since the 1980s, to the collaborators and lab members who were instrumental in our scientific advances. I also want to thank SBP for providing state-of-the-art technologies that were invaluable to our research.”

Millán was presented the award onstage today at the ASBMR 2018 Annual Meeting in Montreal. 
 

Interested in keeping up with SBP’s latest discoveries, upcoming events and more? Subscribe to our monthly newsletter, Discoveries.

Institute News

Soft bone disease research — from bench to bedside and back

Authorjmoore
Date

April 7, 2016

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Funding for the laboratory of José Luis Millán, PhD, professor in the Human Genetics Program, has been renewed by the NIH to the tune of $3 million over the next five years. The grant ensures that they can continue to advance understanding of and develop treatments for the rare disease called hypophosphatasia (HPP). This disease—also known as soft bones—can cause skeletal deformities of the limbs and chest and result in frequent fractures and premature loss of teeth. HPP is estimated to affect approximately one per 100,000 live births. Continue reading “Soft bone disease research — from bench to bedside and back”