In the realm of genetic research, remarkable breakthroughs are achieved by dedicated individuals who tirelessly strive to improve lives. Today, we are delighted to introduce Emma Shea, an exceptional researcher who is making groundbreaking strides in the field of myotonic dystrophy (DM) and genetic diseases. Pursuing her PhD at the University of Florida, Emma’s project revolves around the utilization of CRISPR/Cas9-nickase to precisely target and modify disease-causing DNA in DM. Her work holds the promise of paving the way for effective treatments, potentially transforming the lives of countless individuals affected by myotonic dystrophy.
Emma is a remarkable researcher whose personal connection to myotonic dystrophy (DM) has fueled her determination to find effective treatments for this challenging genetic disease. Emma’s journey began in 2014 when her older sister was diagnosed with myotonic dystrophy type 1 (DM1), revealing that her younger sister, mother, and uncle also carried the condition. This life-altering revelation motivated Emma to delve into the field of genetics and explore avenues such as genetic engineering and gene therapy. Now pursuing a Ph.D. in Biomedical Sciences at the University of Florida, Emma’s groundbreaking work utilizing CRISPR technology holds great promise in the quest for a cure.
A Personal Mission
Emma’s personal experience with myotonic dystrophy has deeply influenced her career path. As she witnessed the daily challenges faced by her family members, including muscle weakness, fatigue, myotonia, cataracts, gastrointestinal discomfort, and daytime sleepiness, she realized the urgent need for effective treatments. Her desire to make a difference led her to intern at the Memorial Sloan Kettering Cancer Center, where she gained valuable insights and inspiration to pursue research focused on studying the disease that affects her family.
Journey into Research
After graduating from Rensselaer Polytechnic Institute, Emma joined Dr. Cheryl London’s lab at Tufts University, where she studied angiosarcoma and hemangiosarcoma in both humans and canines. However, her unwavering determination to address myotonic dystrophy ultimately led her to the University of Florida, where she is now pursuing her Ph.D. under the guidance of Dr. Eric Wang. In collaboration with Entrada Therapeutics, Emma is currently spearheading a groundbreaking DM1 therapeutic research project, which holds tremendous promise and is on the path to publication.
Driving Progress with CRISPR
Emma’s research focuses on harnessing the power of CRISPR technology to make modifications in disease-causing DNA, an approach currently undergoing clinical trials for treating various genetic diseases. Building upon previous work in the field, Emma’s project, titled “CRISPR/Cas9-nickase approaches to shrink expanded repeats in myotonic dystrophy,” proposes a novel method using the Cas9 nickase variant. This innovative approach involves targeting a unique sequence around the repeats and making a single cut, aiming to induce repeat shrinking. Emma’s research will involve cell models of DM1 and DM2 as well as DM1 mouse models, with the goal of identifying the most effective tools and locations within the DNA for precise modifications. Successful implementation of this method could potentially be extended to other repeat-expansion diseases, opening new doors for therapeutic interventions.
Making an Impact
Emma’s ultimate goal is to contribute to the development of safe and effective treatments for myotonic dystrophy while providing hope and support to her family and the DM community. In addition to her research, Emma has also connected with the Myotonic Dystrophy Foundation (MDF), volunteering for various projects and actively participating in planning events such as the upcoming DM Day at the University of Florida. Her commitment to making a difference extends beyond the laboratory, as she seeks to raise awareness and foster a supportive community for those affected by myotonic dystrophy.
Emma Shea’s remarkable journey from personal experiences to cutting-edge research showcases the immense power of passion and dedication. With her groundbreaking work utilizing CRISPR technology, Emma is at the forefront of the quest for effective treatments for myotonic dystrophy. Her innovative approach holds significant promise in shrinking expanded repeats, offering hope to individuals and families affected by this complex genetic disease.
Congratulations again to Emma Shea on a well-deserved fellowship!