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Symposium Features Local Families, Advances in Genetic Research

The fourth annual UofSC School of Medicine Genetic Counseling Symposium featured talks by leading edge geneticists and national researchers, along with two local families who have been touched by their work.

Students, faculty, providers and health care professionals filled the Palmetto Health Richland auditorium to learn, explore and discuss the latest discoveries and innovations in the field.

Presenter Dr. Haiyan Fu is a principal investigator at the Center for Gene Therapy – part of the Nationwide Children’s Hospital in Columbus, Ohio. She is also the researcher who developed the experimental gene therapy Columbia resident Eliza O’Neill received.

Eliza was four years old when she was diagnosed with the rare terminal brain disease Sanfilippo Syndrome — sometimes called “childhood Alzheimer's.” A degenerative condition, the syndrome affects the ability to speak, walk and swallow, and eventually causes organ failure. The O’Neill family launched the Saving Eliza campaign and raised more than $3M, largely through social media and crowdfunding, to pay for the clinical trials that made it possible for their daughter to receive the only available treatment for the syndrome. Fu discussed the specifics of the O’Neill case and the practice of gene therapy.


Cara and Glenn O’Neill with researcher Dr. Haiyan Fu (right)

Cara O’Neill, Eliza’s mother, says genetic counselors can make a significant difference for families as the counselor is often the family’s first point of contact and the person who can help them understand complex information and make informed care decisions during a difficult time.

Oncology scientist Dr. Uri Tabori of the University of Toronto Hospital for Sick Children, or SickKids, also spoke about his efforts to find a cure for a genetic disorder that has affected a Midlands family.

28 year-old Columbia woman Becca Jean Garner died earlier this year from the rare and devastating disease biallelic mismatch repair deficiency syndrome, or BMMRD, which causes multiple cancers in young people. Two of her sisters have also been diagnosed with the disorder. The family learned about Tabori’s work after connecting with other BMMRD patients on social media sites, and went on to create Love Always Becca Jean, a website and foundation that helps to raise awareness and fund the SickKids research.


Becca Jean Garner’s family with oncologist and scientist Dr. Uri Tabori (back row)

Additional symposium highlights included talks by Baylor College of Medicine professor Dr. Magdalena Walkiewicz, prominent genetic counselors Quinn Stein and Julianne O’Daniel, and biotechnology expert Kelly East.

Learn more about the SOM Genetic Counseling program.


November 17th, 2016