National MPS Society Funds Two GGC Projects

11.12.18
National MPS Society Funds Two GGC Projects

 

GREENWOOD, SC  – The National MPS Society has awarded two grants to Greenwood Genetic Center scientists. Director
of Functional Studies, Heather Flanagan-Steet, PhD, and Director of GGC’s Biochemical
Genetics Laboratory, Tim Wood, PhD, will be working on separate two-year projects aimed at improving
the diagnosis and treatment for these rare disorders.
 
Mucopolysaccharidoses (MPS) and related disorders, as a group, affect approximately 1 in 25,000 individuals. The Society provides support resources for
families as well as funding for research into this group of disorders which can affect the health, development, quality of life and lifespan of affected
individuals.
 
Flanagan-Steet has been awarded a $90,000 grant from the National MPS Society to continue her previous work on mucolipidosis II (ML II), a rare genetic
disorder that causes coarse facial features, significant skeletal and joint abnormalities, intellectual disability, and a significantly shortened life
span.
 
Flanagan-Steet has previously identified the importance of enzymes known as cathepsins in the development of heart and skeletal abnormalities in patients
with ML II. Cardiac disease is the most common cause of death in children with ML II. Her current project utilizes an ML II zebrafish model to better
understand how these enzymes function in cardiac and skeletal development and test inhibitors as a potential treatment to improve symptoms for these
patients.
 
“We are proud to support the outstanding science presented by Dr. Flanagan-Steet for her proposal, ‘Cysteine Cathespins as Therapeutic Targets in Mucolipidosis.’
This syndrome does not have a viable treatment on the market today,” said Terri Klein, President and CEO, National MPS Society. “Children diagnosed
with ML suffer from a progressive syndrome with shortened lifespans. Science of this caliber brings hope to the entire patient community, who have
waited decades for research to move forward.”
 
Wood’s $30,000 award from the National MPS Society will focus on better characterizing genetic changes found in the gene for MPS I. His lab will perform
enzymatic and biochemical analysis of variants in the gene that causes MPS I to determine if those variants are benign or disease-causing.
 
“Newborn screening for MPS I has begun in many states, so infants can be identified early, an advance that has important implications for treatment,” said
Wood. “However, this testing is identifying many new variants that we aren’t sure if they are actually disease-causing. This leaves families concerned
and frustrated, not knowing if their child is affected or not.”
 
GGC has a long-standing interest in MPS disorders, providing clinical care, diagnostic testing and research for many of these rare conditions.

 

About the National MPS Society

The National MPS Society exists to cure, support, and advocate for MPS and ML. Their mission serves individuals, families, and friends affected by Mucopolysaccharidoses and Mucolipidosis through supporting research, supporting families, and increasing public and professional awareness. For more information on MPS and ML, please visit www.mpssociety.org.

 

Meet Ella

We will remember February 26th for the rest of our lives. On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome. Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort to get Ella some assistance. Along the way, we were sent to GGC and met with LEARN MORE

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