Spotlighting Rare Diseases Research Blog

A new gene therapy approach for Sandhoff disease developed by UMass Chan researcher Miguel Sena-Esteves is featured in a story in USA Today.

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Two research scientists from UMass Chan Medical School — Kevin Donahue, MD and Marian Walhout, PhD — have been awarded funds for research on much-needed therapies for certain rare diseases...

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For several years, my research team (the Munson lab) had studied the biochemical and cellular mechanisms of the regulatory protein VPS45, a critical regulator of membrane trafficking. When it was found that patients who had mutations in VPS45 developed severe congenital neutropenia, we were very intrigued and curious to understand the basis for this disease....

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I began working in the area of rare disease research during the early years of my research training as a PhD student. This work was focused on molecular genetics, disease gene cloning, and genetic diagnosis of several rare disorders of the central nervous system (CNS), including Canavan disease, Hurler syndrome, and Hunter syndrome...

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The research in my laboratory is focused on improving genome editing technologies so that they can be applied to the development of therapeutics. Inspired by the opportunity to improve the lives of patients with debilitating disorders, my lifelong goal as a scientist is to translate genome editing technologies to the development of therapeutics for a variety of diseases, both common and rare.

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Huntington’s disease is interesting because it is a genetic disease caused by one allele of one gene. We know which gene it is and what the mutation is (an expansion of the CAG repeat region in Exon 1 of the Huntingtin gene). By comparison, Parkinson’s disease and Alzheimer’s disease could be caused by one gene or many genes, and environmental factors...

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Several years ago, we began investigating the mechanism by which genes are turned off on the X chromosome — a process termed X chromosome inactivation (XCI). In females, XCI is a naturally occurring phenomenon in which one of the X chromosomes is randomly turned off, or silenced, as a way to equalize the dosage of the X chromosome between females (who have two X chromosomes) and males (who have one).

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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. 

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