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