The TBRS Community is excited to announce that Karine Doiron, PhD, a postdoctoral research fellow at the Research Center of the Sainte-Justine University Hospital in Montreal, has been selected by Uplifting Athletes for its 2022 Young Investigator Draft. Dr. Doiron will receive $20,000—contributed jointly by the TBRS Community and Uplifting Athletes—to advance her research on Tatton Brown Rahman Syndrome.
“Karine has shown commitment and dedication to our community through her research and by volunteering her time at our family conference in 2021,” says Jill Kiernan, executive director of the TBRS Community. “I am so glad that she was ‘drafted’ by Uplifting Athletes and I look forward to seeing how her work improves the lives of people diagnosed with this rare disease.”
Doiron’s project will investigate the precise dysfunction in brain cells caused by variants in the DNMT3A gene, which underlies TBRS. To do this, she produces stem cells in the lab from tissue samples donated by patients. These so-called induced pluripotent stem cells are then treated to mature into different types of brain cells, and Doiron can examine which cell types derived from TBRS patients have functional differences from cells that don’t carry DNMT3A variants.
“With this support, I aim to identify and understand which specific cell types are affected during brain development of TBRS individuals,” says Doiron.
Individuals with TBRS have some degree of intellectual disability, and neuropsychiatric conditions, such as autism, are common. A survey of patients’ families determined that addressing their loved ones’ psychiatric, cognitive, and behavioral issues is a top priority. “It is so meaningful to families that we can support research into brain development, and I hope one day this will pinpoint the precise problems that we can then target for interventions,” says Kacee Richter, the president of the TBRS Community.
In its first four years, the Young Investigator Draft has awarded more than $440,000 in grant funding to 25 rare disease researchers across North America. Uplifting Athletes strives to inspire the Rare Disease Community with hope through the power of sport. The nonprofit organization, founded in 2007, engages student and professional athletes in realizing the impact of using their powerful platforms to lend a voice to the 30 million Americans diagnosed with rare diseases.
Doiron is a member of Dr. Serge McGraw’s lab. His group focuses on disruption to the ways genes are regulated—known as epigenetics—during development, such as occurs in TBRS. “Funding from the Uplifting Athletes Young Investigator Draft Grant and the TBRS Community will not only provide key information for TBRS research, but importantly, help families of afflicted individuals better comprehend the genetic, molecular, and cellular origins of TBRS,” he says. The TBRS Community is funding another project in McGraw’s lab, in partnership with the Rare Diseases Models and Mechanisms Network, to use a mouse model of TBRS to understand affected cell types and how they lead to various conditions.
Dr. Doiron will be honored along with the eight other Young Investigators on February 5, 2022, at Lincoln Financial Field in Philadelphia, PA.
Kit Church has a background in public health genetics and experience supporting people with genetic and developmental disorders.
