Marek Napierala, Ph.D.
Research Interests: I have more than 25 years of experience studying the molecular mechanisms associated with human diseases that are caused by the expansion of repeat sequences. Work in my group is focused on pathogenic GAA repeat sequences expanded in Friedreich’s ataxia. My laboratory is interested in both basic questions related to molecular mechanisms of FRDA as well as in the development of therapeutic strategies for this disease. My long-term research goal is to uncover pathways that are involved in the pathogenesis of FRDA in order to target them for therapeutic intervention. Our laboratory utilizes both cellular (induced pluripotent stem cell-derived) and mouse models of this disease. We also established the Friedreich’s Ataxia Cell Line Repository, the world’s largest bank of primary FRDA fibroblasts and induced pluripotent stem cell lines that currently holds more than 100 lines derived from different FRDA patients. My laboratory is also involved in the FRDA patient community, hosting interactive yearly meetings with FRDA patients and their caregivers. An essential part of our research program is mentoring the next generation of ataxia researchers, graduate students, postdoctoral fellows, and visiting scientists. Our laboratory always has openings for dedicated students and scientists.
Jill S. Napierala, Ph.D.
My research efforts are devoted to defining molecular mechanisms underlying the most commonly inherited ataxia in humans, Friedreich’s ataxia (FRDA). FRDA is a severe and progressive neurodegenerative disease that is caused by reduced expression of the Frataxin (FXN) gene. The majority of FRDA patients carry homozygous GAA repeat expansions in intron 1 of the FXN gene, while a fraction of patients are compound heterozygotes, carrying an expanded GAA repeat sequence in one allele and a missense or nonsense mutation in the other. The most common result of both types of lesions is lower levels of Frataxin, a mitochondrial protein involved in iron sulfur cluster synthesis. FRDA affects multiple organ systems and currently there is no cure for this disease nor are there approved drugs to treat the symptoms or prolong longevity for FRDA patients. My research areas include: specifying gene expression patterns unique to FRDA in order to identify novel therapeutic targets and disease biomarkers; modulating the expression and activity of mitochondrial aldehyde dehydrogenases to inhibit neurodegeneration in FRDA cell line and animal models; and defining pathogenic mechanisms of Frataxin missense mutations in FRDA.
Pouire Yameogo, Ph.D.
Education: Ph.D., Laval University, Quebec, Canada
Research Interests: Genome editing and developing therapeutic strategies for FRDA
Hobbies/Interests: Listening to music, singing, watching movies, and taking walks
Shibani Mukherjee, Ph.D.
Education: Ph.D., India
Research Interests: Development of a system to check the potency of drugs developed against FRDA, role of frataxin in development of the nervous system
Hobbies/Interests: Reading, traveling, and gardening
Terry Gemelli, B.S.
Education: B.S., The University of Texas at Arlington
Research Interests: use of antisense oligonucleotides to treat neurological diseases, understanding the impact of point mutations on frataxin protein maturation and stability in Friedreich’s ataxia
Hobbies/Interests: Running, lifting weights, gardening, crafts, and enjoying my cats and dogs
Brandon Gerhart, M.S.
Education: M.S., Mississippi State University
Research Interests: Molecular biology and genetics, animal models of human diseases
Hobbies/Interests: Fishing, soccer, and playing guitar
Hongjun Wang, Ph.D.
Education: Ph. D., University of Chinese Academy of Sciences
Research Interests: I am studying molecular mechanisms causing Friedreich's ataxia (FRDA) in induced pluripotent stem cells (iPSCs) derived from patients and its mouse models. My long-term research goal is to reveal pathways involved in the pathogenesis of FRDA with combining molecular biology, cellular biology, CRISPR genome editing, and omics approaches and develop novel therapeutic strategies for FRDA.
Hobbies/Interests: My spare time is spent hiking, fishing, and traveling with my family.
Most Recent Departures
Jixue Li, Ph.D.
Former Research Scientist
Education: Ph.D., Zhengzhou University, China
Agnieszka Zimna, Ph.D.
Former Visiting Senior Researcher
Education: Ph.D., Institute of Human Genetics, Poznan, Poland