ZÜCHNER RESEARCH LAB
The Züchner Lab is a world leader in gene discovery for inherited peripheral neuropathy (CMT). Our lab has been involved in the identification of over 50 different genes involved in human disease. Our group has also pioneered the use of next generation sequencing to accelerate gene discovery and created the world’s first and most successful genomic analysis and sharing platform. Our system is used by investigators in 37 countries and has contributed to nearly 80 gene discoveries in the past three years.
CURRENT MEMBERS
STEPHAN ZÜCHNER
Principal Investigator - MD, PhD
MATT DANZI
Associate Scientist - PhD
JESSICA MEDINA
PhD Student
MAIKE DOHRN
Research Scholar - MD
ISAAC XU
PhD Student
ADRIANA REBELO
Associate Scientist - PhD
YEISHA ARCIA
Clinical Research Manager - MPH
ROSARIO ISASI
Associate Scientist -JD,MPH
SARAH FAZAL
Associate Scientist - PhD
JACQUELYN SCHATZMAN
Research Associate
SELECT PUBLICATIONS
March 2018
Mutations in ATP1A1 Cause Dominant CMT Type 2
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January 2019
Variation in SIPA1L2 is correlated with phenotype modification in CMT disease type 1A
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February 2019
A network biology approach to unraveling inherited axonopathies
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March 2019
Truncating mutations in UBAP1 cause Hereditary Spastic Paraplegia
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September 2018
The human motor neuron axonal transcriptome is enriched for transcripts related to mitochondrial function and microtubule axonal transport
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March 2018
SCO2 mutations cause early-onset CMT disease associated with cellular copper deficiency
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