Rare Disease Report

PRF Awards Five More Research Grants

SEPTEMBER 26, 2017
Meryl Fink, PRF
Since its inception in 1999, the Progeria Research Foundation (PRF) has awarded 70 grants to researchers throughout the world to advance the field of Progeria research. The work produced by these scientists has led to important discoveries about Progeria, heart disease, and aging, as interest in Progeria research continues to thrive.


Richard K. Assoian, PhD
Professor of Pharmacology, University of Pennsylvania Perelman School of Medicine, Department of Systems Pharmacology and Translational Therapeutics (Philadelphia, PA)
“Analysis and attenuation of arterial stiffening in HGPS: implications for lifespan”
The arteries of children with Progeria are abnormally stiff, and arterial stiffness is a risk factor for heart attacks. Blood vessel walls contain collagen and elastin for flexibility, as blood is pumped to and from the heart. This study will assess the roles of collagen and elastin in normal arterial stiffening with age versus premature arterial stiffening in Progeria. Dr. Assoian will also explore genetic and pharmacologic approaches that aim to improve arterial stiffening by targeting elastin and collagen, and assess the resulting effects of these approaches on lifespan.

Juan Carlos Izpisua Belmonte, PhD
Professor, Gene Expression Laboratories at The Salk Institute for Biological Studies (La Jolla, CA)
“Amelioration of premature aging phenotypes in HGPS”
Cardiovascular alterations are the leading cause of death among children with Progeria. Dr. Izpisua Belmonte’s laboratory has demonstrated that cellular reprogramming can rejuvenate Progeria cells. His laboratory is now using cellular reprogram­ming to improve aging symptoms in mouse models of Progeria, with special focus on the cardiovascular system. These discoveries could lead to the development of novel treatments for children with Progeria.

Isabella Saggio, PhD
Associate Professor of Genetics and Gene Therapy, Sapienza University (Rome, Italy)
“The lamin-interacting telomeric protein AKTIP in HGPS”
The causative mutation of Progeria affects the protein lamin A. AKTIP, a protein that Dr. Saggio’s team recently characterized, is a lamin-interacting factor essential for cell survival. This study will test the hypothesis that AKTIP acts as a checkpoint for DNA damage in Progeria. The team will extensively analyze AKTIP function in cells and in Progeria mice. This research will give new insights into the role of this new protein in driving disease in Progeria, including progerin function, telomere dysfunction, and DNA damage. Discovering a new key protein in disease could provide a new target for future treatment.


Ricardo Villa-Bellosta, PhD
Team Leader, Fundación Jiménez Díaz University Hospital Health Research Institute (Madrid, Spain).
“Therapeutic strategies to recover the normal pyrophosphate homeostasis in HGPS”
Like children with Progeria, Progeria mice exhibit excessive vascular calcification and this contributes to their premature atherosclerosis. Pyrophosphate (PPi) is needed to prevent calcifications, but is impaired in Progeria mice. Dr. Villa-Bellosta will conduct experiments to restore PPi balance in Progeria mice, and test whether this prevents the calcifications that contribute to disease in Progeria. If successful, this strategy may give us new pharmacological agents to develop for the treatment of Progeria.

Tom Misteli, PhD
NIH Distinguished Investigator and the Director of the Center for Cancer Research at the National Cancer Institute, NIH (Bethesda, MD)
“In vivo testing of candidate HGPS therapeutics”
The goal of this study is to test new RNA-based therapeutic agents in mouse models of Progeria. Dr. Misteli previously received a PRF grant to discover RNA therapeutics by testing them on Progeria cells, where the treatments were able to prevent most of the progerin from being made by the cells. Successful in this endeavor, he now moves the treatments into Progeria mouse models, where the goals are to improve cardiac disease and lifespan. If successful, human trials may follow.

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