marek napieralaAssociate Professor

Research Areas
Molecular mechanisms of repeat expansion diseases


Research Interests

Work in our laboratory is focused on Friedreich’s ataxia (FRDA), an autosomal recessive inherited disease that causes impairment to several systems and organs including but not limited to peripheral and central nervous systems and heart. Characteristic symptoms of FRDA include discoordination, slurred speech, muscle weakness, peripheral neuropathy and cardiomyopathy. The disease is progressive, leading to restricted mobility and significantly shortened life expectancy. FRDA is the most common inherited form of ataxia with a population incidence of approximately 1:50,000 and asymptomatic carrier frequency of approximately 1:100.

Friedreich’s ataxia belongs to a larger group of more than 40 diseases caused by expansion of repeat DNA sequences. It shares some molecular resemblance with myotonic dystrophies type 1, 2 (DM1, 2), fragile X syndrome (FRAXA) and C9orf72 ALS/FTD, such as the location of the repeats in non-coding regions of the involved genes and an epigenetic component of pathogenesis.

If you want to learn more about Friedreich’s ataxia and projects in our laboratory click here!

Research Opportunities: We are recruiting motivated postdocs and researchers. We use human induced pluripotent stem cells (iPSCs) as well as several mouse models in our FRDA-focused projects. Areas of research vary from defining molecular mechanisms regulating DNA replication and transcription through expanded repeat sequences, chromatin changes caused by repeat expansion, frataxin protein structure and stability studies and developing therapeutic strategies to treat FRDA. We utilize state-of-the-art genome editing and -omics approaches, and collaborate with numerous academic groups and biotech/pharma companies to combat this debilitating disease.

If you are interested in joining our group, please send an email to mnapiera@uab.edu.

For requests of FRDA iPSCs and other cell lines or lab resources, please click here.

Education

M.Sc. University of Adam Mickiewicz (UAM) Poznan, Poland

Graduate School
Ph.D., Institute of Bioorganic Chemistry Polish Academy of Sciences, Poznan, Poland
D.Sc. Institue of Bioorganic Chemistry Polish Academy of Science, Poznan, Poland

Postdoctoral Fellowship
Institute of Biosciences and Technology, Texas A&M University, Houston

Contact

Office
Shelby Biomedical Research Building
Office: Room 706
Lab: Room 731
1825 University Blvd.
Birmingham, AL 35294-2182

Phone
(205) 975-5320 (office)
(205) 975-5335 (lab)

Email
mnapiera@uab.edu


Committed to exploring new frontiers in basic and translational research.

The Department of Biochemistry and Molecular Genetics is an integral part of the vibrant biomedical research community at the University of Alabama at Birmingham (UAB). UAB ranks among the top public institutions of higher education in terms of research and training awards. Research conducted by the faculty, staff, and students of the Department of Biochemistry and Molecular Genetics is currently supported by more than $7.1 million per year in extramural, investigator-initiated grants.

Research

The Department of Biochemistry and Molecular Genetics carries out cutting-edge basic and translational research. Research strengths in the department includes cancer biology, chromatin and epigenetic signaling, metabolism and signaling, regulation of gene expression, structural biology, DNA synthesis and repair, and disease mechanisms.

Education

Graduate students and postdoctoral fellows in the Department of Biochemistry and Molecular Genetics are trained to carry out hypothesis-driven research using advanced research techniques. This training will prepare our graduates for a career in not just biomedical research, but also in other diverse fields that require critical thinking. Our faculty also proudly trains professional (MD, DDS, & DO) students, as well as undergraduate students at UAB.