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Through this study by Children’s Hospital of Pittsburgh of UPMC, researchers are investigating a rare inherited disorder called MELAS, or mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, which has been found recently among Amish communities. MELAS, which has no cure, is caused by a problem within the mitochondria, which produce 90 percent of the body’s energy. MELAS may affect people in different ways, including problems such as low energy, muscle pain or weakness, hearing loss, learning problems, seizures, strokes, blindness, nausea/vomiting, and chronic diarrhea. This program focuses on the Amish in northwestern Pennsylvania with objectives of educating community members about MELAS and mitochondrial disease, gauging the effectiveness of this education through surveys, and identification and characterization of the occurrence of the common gene change that causes MELAS in this community. Researchers will also construct family trees showing relationships among affected family and community members.
All members of the northwestern Pennsylvania Amish community are invited to participate in this study.
Males and Females: All ages
Researchers will visit the Amish communities to conduct certain study activities. In the initial visit, which will last about 4 hours, participants will complete questionnaires, receive education about MELAS, provide medical history information, and provide samples (blood, urine, cheek swab), which will be taken for analysis. During return visits by the study team several months later, each participate can learn the results of the studies through a private meeting with one of the team’s physicians and/or genetic counselors.
Duration: 3-4 months
Genetic Disease in Amish
Medical Genetics Research
Gerard Vockley, MD, PhD
For more information about the study or enrollment, please contact:
Cate Walsh Vockley, MS, LCGC
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One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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