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Angioma Alliance Awards Two Microgrants

June, 2016

Angioma Alliance's first Micro-Grant Award is to Christine Petranovich, Ph.D., Assistant Professor in the Department of Psychiatry and Behavioral Sciences at the University of New Mexico Health Sciences Center. Dr. Petranovich will be working to document patients' experiences of genetic testing and to suggest comprehensive ways the experience can be improved, tailored to each individual's circumstances and personality.

Dr. Petranovich’s project focuses on understanding the genetic testing decision-making process in individuals with the CCM Common Hispanic Mutation, including in those who do not have symptoms. Her aim is to survey 150 patients who have received genetic testing to understand their perspectives and experiences, both positive and negative. With this data, she would like to identify characteristics and circumstances that might influence the decision-making process and the impact of testing.

The long-term goal of this project is to assist doctors in improving patients’ experience of genetic testing by identifying and addressing concerns and stumbling blocks before, during, and after testing. This can improve the quality of healthcare delivery for those with the Common Hispanic Mutation, and. potentially, for CCM patients everywhere.

Congratulations to Dr. Petranovich. We look forward to following her work.

 

Our second exciting micro-grant is awarded to Italian scientist Dr. Carmela Fusco. Her project will analyze a critical cellular process known to be impacted by CCM genetic mutations, the same mutations that cause the development of cavernous angiomas in both hereditary and sporadic forms of the illness.

As background, the cells of our bodies manage their own recycling program so that they can remove waste to maintain good health. The scientific term for this recycling program is autophagy. In recent years, defective autophagy has been discovered to have a role in multiple diseases including cerebral cavernous angioma. Previous studies have shown that CCM genetic mutations prohibit normal autophagy, leading to inappropriate accumulation of byproducts and increased cellular stress.

Autophagy is a stepwise process. In the work funded by Angioma Alliance’s micro-grant, Dr. Fusco aims to identify which of the steps is involved in CCM disease. By doing so, she hopes to identify new targets for drug intervention to provide better treatment options for our community.

Congratulations to Dr. Fusco! We are grateful to be able to support her work through the generosity of our donors.