A Lab Devoted to Friedreich’s Ataxia Research
The University of Alabama at Birmingham Stem Cell Institute in the School of Medicine
How incredible would it be to play a part in the cure for FA— in changing lives?
Thursday, February 12, 2015 was a pivotal day in my journey living with FA. I have now seen with my own eyes the process of measuring GAA triplet repeat expansion and determining frataxin protein levels, a liquid nitrogen freezer of FA patient skin cells programmed to become induced pluripotent stem cells, incubators of derived cardiac cells (cardiomyocytes), and those same cardiac cells beating under a microscope (only a few labs in the world have these). These cardiac (and neuronal) cell models are very useful in testing new potential therapies for FA and discovering potential disease biomarkers.
I shook the hands of researchers awarded grants from FARA, funded by us—by us! In full circle, the funds for research that the FA community raises tirelessly now stand in front of me. Is a possible side-effect of FA a newfound ability to carry out a conversation about biochemistry and molecular genetics?
My husband and I with the Stacks family joined FARA’s Jen Farmer to visit the University of Alabama at Birmingham’s Stem Cell Institute at a laboratory studying Friedreich’s ataxia, one of less-than 30 in the U.S. Two hours west of Atlanta, this particular lab, led by FARA-native Dr. Marek Napierala, is entirely focused on FA. Dr. Napierala recently moved his research here from the University of Texas at Houston. The focus of the laboratory is to better understand mechanisms caused by expanded GAA repeats and to develop therapeutic approaches for the disease.
Napierala’s postdoctoral fellows and graduate students presented their recent work with induced pluripotent stem cells to the group. Cells from patient skin biopsies are programmed to be iPS cells that can be made into neuronal or cardiac cells. Humans have around 21,000 genes, translating each into a protein. Research has discovered other proteins besides frataxin may play a role in disease progression and severity (1). The lab continues to examine molecular pathology in FA by determining what RNA pathways are different in individuals with versus without FA, to hopefully provide specific targets to develop treatments and biomarkers. So far, Napierala’s lab presented findings of a dozen potentially influential pathways in FA skin cells. They will begin assessing neuronal and cardiac cells. (Side-note: The RTA408 study drug- beginning an FDA phase II trial in FA- was developed to activate the NfR2 pathway, a regulator of energy production in cells.)
This is all happening so fast!
Jen, the Stacks, and I shared our stories of how we are each affected by FA with the focus of urgency to find treatments and to put faces to the name Friedreich’s ataxia. Hearing from these researchers only reminds me how committed everyone is to the cure. Patients, families, researchers, doctors, companies, organizations, and every supporter each play an important role. And together, we will CURE FA!
As a patient, there is so much you can do to be a part of finding the cure. Keep spreading awareness and raising funds for research. Ask every FA patient you know to sign up for FARA’s Patient Registry and keep patient information updated. This is the fastest and easiest way to reach patients for recruitment to clinical trials or for treatment discoveries. And while you are at it, sign up for FARA’s mailing list for updates on FA community and scientific news.
Read more on Dr. Marek Napierala’s discoveries in FA.
(1) Delatycki et al., Melbourne, Australia. “Beyond Loss of Frataxin: the Complex Molecular Pathology of Friedreich Ataxia.” Discovery Medicine 17(91):25-35, January 2014.
Thank you to the Napierala Laboratory: Dr. Angela Bhalla, postdoc.; Dr. Jill S. Butler, instructor; Dr. Yanjie Li, postdoc.; Dr. Natalies Rozwadowska, postdoc.; Amanda Clark; Zac Whatley; and Dr. Marek Napierala
Photos courtesy of: Jen Farmer (FARA Executive Director), Dr. Marek Napierala, Daniel Sims, and Candy Stacks