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CMT Genetics Laboratory

Zuchner Lab


Stephan Zuchner
Principal Investigator

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Dr. Zuchner is interested in studying the genomic underpinnings of peripheral neuropathies. This has proven to be challenging, because CMT, with now over 90 causative genes, is one of the most genetically heterogenous diseases. By applying the latest technological advances we were fortunate to contribute to the discovery of more than two dozen CMT genes since the early 2000. This includes the most common axonal dominant CMT type, mitofusin2, and the most common recessive CMT gene, SH3TC2. Especially next-generation DNA sequencing and our subsequent development of advanced forms of data sharing and joint genetic analysis for CMT has greatly increased the speed of discovery. The latter efforts include the development of sophisticated software tools, such as the platform and the 'Inherited Neuropathy Browser’. We also strive to uncover the molecular details of CMT disease gene identification by applying a range of methods (such as CRISPR/Cas9) in different model systems (patient cells, zebrafish, mouse) and via in silico methods such as network modeling. Why is it important to identify all CMT genes? Diagnosis of CMT has been significantly improved over the last decade; each of these genes represent necessary targets for therapy development and future gene therapy applications; in combination with modifier gene studies (which we pursue) and the detailed natural history studies by the Inherited Neuropathy Consortium this will ultimately lead to better clinical trails and better clinical predictions for individual patients. 

Adriana Rebelo
Assistant Scientist

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Adriana is a scientist who studies the genes that cause CMT. She conducts the molecular and cellular experiments in the lab to decipher how genetic mutations from patients with CMT affect cellular function. She has identified novel genes linked to CMT unveiling the pathological mechanism of the disease. Her contributions will help advance the development of treatments for peripheral neuropathies.  

Cima Saghira
Senior System Analyst

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As a Sr. Systems Analyst, Cima is responsible for providing technical support to the lab to ensure quality software and proper workflow of daily operations. I analyze, design and implement IT solutions to increase lab efficiency and streamline processes for clinical and research purposes. We manage multiple NGS pipelines and perform analysis of genome-scale sequencing data. I work closely with the team to build new tools that promote global researchers’ collaboration to better understand inherited neurodegerative disorders.

Alex Abrams
Post-Doctoral Fellow

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Alex's current research focuses on understanding the genetics and disease mechanisms involved in CMT. He uses a combination of human cell and zebrafish models to investigate why mutations in various genes lead to the selective degeneration of neurons. Zebrafish are a powerful model to study CMT because most genes are up to 80% conserved, alterations in swimming can be assessed in a high throughput format, larvae are transparent, and axons can be readily visualized in vivo.  are successfully using the CRISPR-Cas9 gene editing technology to generate models and study rare forms of CMT.

Lisa Abreu
Clinical Research Coordinator

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Lisa is our Clinical Research Coordinator for CMT and HSP studies at the John P. Hussman institute for Human Genetics. She is also study coordinator for enrollment in CMT protocols for the RDCRN Consortium within the Multidisciplinary Clinic in the Department of Neurology.

Feifei Tao
PhD Student

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Feifei’s project focuses on identifying genetic modifiers in CMT1A using population-based approaches. The purpose of the study is to understand why CMT1A patients with the same mutation have different disease severity. While many factors contribute to the clinical variability in patients, genetic components may play important roles in modulating the disease presentation. This study will help us better understand the mechanism of CMT1A, and the genetic modifiers identified from the study can become potential targets for future therapeutic interventions.

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