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A rare opportunity to study genetic disorders: Mayo Clinic graduate research

| Denise Olson (story); Jesse Yang (video)

Allie Welter, a 2018 Blugold alumna, has had a solid idea of what she wants to do with her life since she was 12 years old, and she hasn't strayed from it. That's pretty rare. 

But not many people have had the lifetime of inspiration growing up alongside them that Welter has had — her younger brother, Andy. Andy Welter, a high school senior in Farmington, Minnesota, has a rare genetic disorder called myotubular myopathy (MTM), which impacts muscle development and leaves him dependent upon a wheelchair and ventilator. Since her preteen years, Allie has known that she wants to find more than just ways to help her brother live his best life. She wants to discover drugs and therapies to treat or cure diseases like her brother's.

"When I was around 12, I went to my first MTM family conference where families dealing with MTM come together to learn from each other and find support," said the UW-Eau Claire biochemistry/molecular biology graduate. "Researchers attend every year and update families about the newest studies into developing a cure. That was my first introduction to the possibility of medical research as a career. I found these people very inspiring, and learning about their work played a huge role in my decision to pursue a Ph.D."

Welter began her graduate studies this past July at the Mayo Clinic Graduate School of Biomedical Sciences. The program is new for Welter, but not the place. She worked at Mayo as a biomedical researcher for five months after completing her Blugold degree last December.

"I kind of had a 'gap semester' between graduating and starting a Ph.D. program, so I came to Mayo Clinic to find out if there was a lab where I could work on the types of genetics projects that interest me, those connected to genetic disease and finding therapies for them," Welter said. "I met Dr. Tim Olson who had a position for a grad student in this lab, and he hired me as part of the Mayo Clinic Graduate Research Employment Program. His lab is studying the genetics of hypoplastic left heart syndrome (HLHS), a severe congenital heart defect in which the left side of the heart is underdeveloped. The lab is seeking genetic clues into this very complicated disease, and potential treatments." 

Olson saw on Welter's resume that she graduated from UW-Eau Claire with a wide array of research experiences under her belt, all of which had helped her decision to pursue a Ph.D. Those experiences enabled her to hone her lab and analytical skills and build a network of contacts in the field of biomedical research. 

Welter earned a freshman scholarship known at the Blugold Fellowship, a program designed to carve out undergraduate research opportunities for students as soon as they enroll. Welter spent more than three years studying plant genome sequencing in Dr. Derek Gingerich's lab. 

In addition, Welter secured a summer internship at Boston Children's Hospital and Harvard Medical School, where she assisted in a lab that studies MTM, the same genetic illness affecting her brother. 

"Doing undergraduate research at UW-Eau Claire helped prepare me to be more independent working here at Mayo Clinic," she said. "I felt more comfortable being an independent scientist after doing research for so long, and the time in Boston allowed me to network with the amazing Harvard faculty. It was a really great experience."

Allie Welter and Dr. Jeanne Theis discuss research findings into HLHS at Mayo Clinic

Allie Welter and Dr. Jeanne Theis discuss research findings relating to genetic heart disease in the lab of Dr. Tim Nelson at Mayo Clinic in Rochester, Minnesota.

Becoming more adept and independent as a laboratory researcher is something that benefits not only the research students, but Mayo Clinic as well, according to Dr. Jeanne Theis, Mayo Clinic research scientist and participating supervisor in the GREP program. 

"Allie brought with her some tools that we weren't familiar with, programming she had learned in one of her courses," Theis explained. "These students are very bright, they're very motivated, and they bring a lot to the table. The other thing they offer is that they force us to think outside the box a little more, asking things like 'Why aren't you doing it this way?' or saying 'Maybe we should try this.' Ultimately, they're not afraid to ask those questions and to challenge us in the labs, which is great." 

Now that Welter has moved on from GREP to her Ph.D. studies in molecular pharmacology and experimental therapeutics, she is very grateful for the chance to have worked with Dr. Olson and the rest of the teams seeking a treatment for HLHS. 

Another Blugold graduate, Casey Huxtable, happens to work in the Rochester, Minnesota, area for a biotech company on the other end of research to treat HLHS, the growth of stem cells taken at birth to use in later surgeries to repair the valve defect. His firm, Regen Theranostics, is part of the network of biomedical professionals Welter and the lab team met with regularly in the course of her research. 

This emphasis on teamwork is critical to scientific discovery, and is a lesson Welter plans to carry from the experience into her future as a biomedical scientist. 

"The part of the project I worked on is the discovery part of the process, finding new genes involved in the disorder; Regen and other organizations are involved as well, at other stages of the process. We met often to collaborate and look at all sides of the spectrum to see what we could all do better. The work of Dr. Nelson's lab is a mere part of the big picture and it can give insight into understanding this very complex disease."