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Spotlighting Rare Diseases Research Blog

Researcher Spotlight: Eric Baehrecke, PhD

Friday, April 26, 2019
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Autophagy Gene Discovery

Our lab studies autophagy, a process that has been linked to a wide variety of disorders. Our autophagy gene discovery efforts led to the identification of multiple disease-associated genes, including VPS13D (Vacuolar Protein Sorting 13 Homolog D) that has been implicated in pediatric dystonia and ataxia, as well as adult-onset ataxia. 

We are studying the mechanisms that control autophagy, a process that is required to maintain the health of cells. Defects in autophagy lead to cell stress and have been associated with many disorders, including common and rare diseases. Our discovery of the rare disease-associated VPS13D gene has led to an increased understanding of how this factor functions in the regulation of multiple cellular processes. Our work is focused on investigating how VPS13D regulates autophagy, mitochondrial and cell health. Projects involve understanding the factors that interact with VPS13D, determining how VPS13D and associated proteins influence different types of cells, and the impact of altered VPS13D function on organism health.

Research Impact on Rare Diseases 

It is important for people with rare disease to take part in medical research because this is the best way to advance our understanding of rare diseases. Individuals who learn they have a rare disease should speak with experts that bridge clinical and fundamental research, as they are likely to be the first to hear about discoveries that can be leveraged to help them understand their rare disease.

Conducting fundamental scientific research that advances our understanding of diseases is what inspires me and we continue to do what we do best, conduct fundamental genetic and cell biology research that is likely to lead to discoveries that advance our understanding of normal and abnormal cell and organism function. The research we conduct, although difficult, is incredibly rewarding. We have discovered a link between autophagy, mitochondria, and movement disorders which can be applied to the rare disease community.

The Future of Rare Disease Research

To all the future researchers who are considering a career in rare disease research, I urge them to work hard, think, and be patient. Rare disease research can be incredibly fulfilling, especially knowing that you are contributing to a field where there are many unknowns. To all potential rare disease research donors, the generosity of donations not only advances the understanding of medical conditions but also has the potential to advance science that impacts many diseases.

About Eric Baehrecke

eric-baehrecke.pngEric Baehrecke, PhD, is a professor in the department of Molecular, Cell and Cancer Biology, at the University of Massachusetts Medical School. Eric received his PhD in cancer biology from the University of Wisconsin, Madison.

His lab studies how autophagy is regulated and focuses on understanding how autophagy functions in different cells and tissues, as well as under different types of cell stress.