In light of the recent statement made by US Food and Drug Administration (FDA)’s Commissioner, Scott Gottlieb, MD, regarding the new guidance documents for gene therapy development, the rare disease community is buzzing. Researchers working with rare diseases that have genetic origins are increasingly turning to the use of these therapies as potential treatment options. With over 7,000 rare diseases existing and more being detected every year, the growing need for effective treatment options is underscored.
In a laboratory at Children’s Hospital of Orange County (CHOC) Children’s Research Institute, researchers are working on developing personalized CRISPR-Cas9 genome editing therapeutics for rare diseases, with a specific focus on the progressive cardiac and skeletal myopathy lysosomal storage disorder (LSD), Pompe disease. Research scientist, Jeffrey Huang, PhD, is helping lead the way.
“Over 30 million Americans—nearly 1 in 10 people—suffer from 1 of the 7,000 conditions classified as a rare disease,” said Dr Huang in a recent interview. “Many rare disorders often lead to progressively debilitating and sometimes fatal outcomes in infants and children. Unfortunately, there are no cures for most rare diseases; if existent, current therapy only attenuates or slows disease progression. My primary research focus is to evaluate and develop CRISPR genome editing therapeutics to address deficiencies of existing treatment for rare pediatric disorders, such as Pompe disease.”
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