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Spotlighting Rare Diseases Research Blog

Early Discoveries on the Genetics and Treatment of Canavan Disease

Posted On: Aug 1, 2019 Posted By: Guangping Gao, PhD Tags: Canavan diseases

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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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Optimizing Genome Editing Technologies for Therapeutic Application

Posted On: Jul 16, 2019 Posted By: Scot A. Wolfe, PhD Tags: genome editing, Hermansky-Pudlak syndrome, limb-girdle muscular dystrophy, Rett 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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Understanding Huntington’s disease

Posted On: Jul 2, 2019 Posted By: Neil Aronin, MD Tags: Huntington’s disease

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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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Reactivating the Silenced X Chromosome: A Potential Therapeutic Approach to CDKL5 Deficiency and Rett Syndrome

Posted On: Jun 6, 2019 Posted By: Michael R. Green, MD, PhD Tags: CDKL5 deficiency, Rett syndrome

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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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Researcher Spotlight: Eric Baehrecke, PhD

Posted On: Apr 26, 2019 Posted By: Eric Baehrecke, PhD Tags: ataxia, autophagy, dystonia

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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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