UTICA, N.Y. — Is there a connection between the development of heart disease and autism? That’s what researchers at the Masonic Medical Research Institute (MMRI) are working to find out. Maria Kontaridis, executive director of MMRI, Professor Gordon Moe, and colleagues are researching that question using grant funding from the American Heart Association (AHA). Now, […]
UTICA, N.Y. — Is there a connection between the development of heart disease and autism? That’s what researchers at the Masonic Medical Research Institute (MMRI) are working to find out.
Maria Kontaridis, executive director of MMRI, Professor Gordon Moe, and colleagues are researching that question using grant funding from the American Heart Association (AHA). Now, with the help of an AHA supplement award, the ongoing project will continue, per a June 22 news release.
MMRI is a biomedical research institute that says it focuses on scientific research that “improves the health and quality of life for all.”
The grant — which promotes “diversity and excellence in science” — was awarded to Luana Nunes Santos, a postdoctoral fellow in the Kontaridis Laboratory.
“I am honored to have been awarded this grant and given the opportunity to continue working towards my dream,” Santos said in the release. “As a woman in science who is also from South America, it means a lot to have this support. It is the first check on the list to one day becoming an independent scientist and have my own lab.”
That grant funding follows a $300,000 transformational project award from the AHA to Kontaridis in November 2020.
The supplement totals more than $133,000 and spans a period of two years. It seeks to “support research experiences for predoctoral and postdoctoral fellows from underrepresented racial and ethnic groups in science under the mentorship of current AHA awardees,” MMRI said.
“This project would not have been possible without the support from the AHA. I am immensely proud to have Dr. Santos on my team, to be her mentor and to witness her success trajectory and growth as a scientist. This grant is well-deserved, and a testament to Dr. Santos’ skills, dedication, and ambition,” said Kontaridis, who became MMRI executive director in May 2020, after previously serving as the organization’s director of research.
About the project
The research project focuses on a specific mutation within the PTPN11 gene. Up to now, experiments have been centered around the use of inducible pluripotent stem cells (iPSCs). Those are cells that can be differentiated into any tissue type of interest and are derived from patients with autism-causing mutations, according to MMRI.
The iPSCs have been converted into both heart-muscle cells and brain-organoid cells to study the effects of these novel PTPN11 mutations on heart disease and brain development.
With the supplement, Santos will also now be able to study these mutations in genetic-modified mouse models, which will allow for determination of the effects of these mutations in a mammalian system, and not just specific cells in a tissue-culture dish.
Santos’ work centers around conducting the heart-study experiments of this project.
Gulahn Ercan-Sencicek — an instructor in the Kontaridis Laboratory at MMRI — will focus on the brain-organoids portion of the study. Together, the group hopes to identify novel mechanisms of disease and identify potential therapeutics that can be used to treat patients with autism-associated cardiac disease.