Research Fund - Sabrina Bertucci has raised $190,182 out of their goal of $100,000
About Sabrina
Sabrina Gabriella Bertucci was born on July 7, 1982. She was an energetic, happy child and had a successful academic career. She went to the Rye Country Day School through high school and graduated Cum Laude with a BA in Art History from the George Washington University.
Sabrina enjoyed life to its fullest and was the best friend, sister, daughter, granddaughter and aunt that anyone could possibly ask for. She had a huge heart and an infectious laugh. She will be missed by all of us.
Sabrina led a normal life until her early twenties. She enjoyed her college experience, excelling in her coursework and making life-long friends. Just after graduation, when she moved to New York to start her first job, Sabrina started having balance problems, difficulty walking and mild problems with executive function. Doctors and neurologist could not identify the reason for her symptoms until a genetic test revealed that she was affected by a mitochondrial disease identified as POLG 1.
POLG 1 is most often diagnosed in children when it progresses rapidly. As an adult, onset of the disease progressed relatively slowly until at age 30 when she experienced serious epileptic seizures and was hospitalized for ten days. After this episode, Sabrina’s condition slowly deteriorated. She experienced symptoms across most of her systems, from vision problems to extreme fatigue and myoclonus, to name only a few.
Then on May 14, 2022, Sabrina’s condition rapidly degenerated. She started having seizures that could not be controlled leading to her passing at the age of 40. Sabrina was committed to helping scientists find out more about Mitochondrial Diseases in the hope of eventually developing a cure. Sabrina was on the Junior Board of the New York Stem Cell Foundation, that honored her with the “ Stem Cell Hero Award” in 2014. She also participated in clinical trials through Columbia University, and met with medical students to answer questions and serve as a case study so that they could better understand POLG 1. Even in death, she continued working for a cure by gifting her organs to science.
Please help us continue the work that Sabrina felt so passionately about by donating to the United Mitochondrial Disease Foundation. Our joint wish is that some day there will be a cure so that no other family has to endure the pain of watching their loved one struggle with this debilitating and deadly disease.
How You Can Help
Since 1996, the UMDF has funded nearly $13 million in research projects aimed at finding better treatments for mitochondrial diseases, with the ultimate goal of a cure. Your donation moves us closer to treatments and, ultimately, a cure for those who face this devastating disease.
Our Impact
Since August 2024: The Sabrina Bertucci Impact Fund has invested in the following:
Project Butterfly
Michio Hirano, MD, PhD
Columbia University
Project Butterfly was launched in 2023 with goal of better understanding the manifestation of specific POLG mutations that cause mitochondrial disease. Dr. Michio Hirano, a world-renowned expert in POLG mutations, and his team at Columbia University, will study frozen tissue samples collected from POLG patients along with tissue of healthy controls. By comparing POLG samples with healthy tissue, we hope to learning more about the impact of POLG mutations on timing and severity of patient symptoms. This vital research is poised to unlock new understanding of POLG mutations, offering invaluable insights that could one day lead to better treatments or even a cure.
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About UMDF
For over 25 years, UMDF has built a network of the top clinicians, hospitals and researchers dedicated to fighting mitochondrial disease. We are driven by a nationwide community of ambassadors solely focused on supporting patients and families affected by mitochondrial disease.
Together, we are committed and energized to make a difference by funding the best science no matter where it is found in the world and providing critical programs and services to the patient families we serve.
Our Mission
Promote research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families.
www.umdf.org
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Pittsburgh, PA 15239
888-317-UMDF