SanjayName: Sanjay Bidichandani

Where do you work? I work at the University of Oklahoma Health Sciences Center in Oklahoma City, where I am the head of Pediatric Genetics and I run a research lab that is entirely focused on FA.

How long have you been working on FA and who was the first fellow FA researcher you met? I have been working on FA for the past 25 years. The first FA researcher I met was Dr. Massimo Pandolfo when I was a postdoctoral fellow, and he was an Assistant Professor at the Baylor College of Medicine in Houston, Texas. At the time, Dr. Pandolfo was leading an effort to identify the gene for FA. I was fortunate to work with him and contribute to the discovery effort.

What question or challenge were you setting out to address when you started this work? Being part of the team that identified the gene for FA was an exciting experience during the formative years of my research career. The discovery of the expanded GAA repeat, and that it is located in a "non-coding" region of the FXN gene that shouldn't normally cause a problem with gene function – but it somehow still does – sparked a lifelong interest in me to address two fundamental questions in FA: (a) how does the GAA sequence expand (and contract), and (b) how does the expanded repeat, which is in a "non-coding" portion of the gene, lead to FA?

What research topics or questions are you currently focused on? Research in many labs, including ours, has shown that the expanded GAA repeat that causes FA does so by an "epigenetic" mechanism. Simply put, this means that the expanded repeat makes the FXN gene fold-up tightly – and it cannot be read by the cell (as would normally happen if the GAA repeat were not expanded). This results in the cell not being able to efficiently read the FXN gene, which produces a deficiency of frataxin protein, leading to FA. We believe that a precise understanding of the epigenetic silencing mechanism is key to turning the gene back on as a treatment strategy for FA. Therefore, the research in my lab is focused on delineating the precise mechanism of epigenetic gene silencing in FA.

What do you hope to achieve or what excites you in FA research? Our ultimate goal is to help develop an effective therapy for FA!

If you have met someone living with FA, please tell us about that interaction. Did it have an impact on your work? I have interacted with many people with FA. Without exception, each and every interaction has inspired and motivated me to push forward with my research and to persevere to answer some of the big unanswered questions in FA.

You serve voluntarily on FARA's Scientific Advisory Board. Please tell us what you see as FARA's key role in the research process. I am proud of my association with FARA, which has spanned my entire research career. It was funding from FARA that initially helped me to set up my lab back in 2000! I now serve on FARA's Board of Directors and Scientific Review Committee. FARA is focused on realizing effective treatments for FA – and on improving the lives of people with FA. Staying laser-focused on this goal is FARA's defining strength. Additionally, the word "alliance," which is in FARA's name – is a defining feature of FARA's character; FARA believes in marshaling diverse people, talents, resources to achieve its singular goal.

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