Congenital myasthenic syndromes, presynaptic variants of congenital myasthenic syndromes, cholinergic system, synaptic transmission and motor neuron disorders.
Maselli's Laboratory
Laboratory of Molecular Genetics and Regenerative Gene Therapies
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Our Research Goals
Our lab studies rare congenital myasthenic syndromes and develops gene therapies to correct the underlying molecular defects. We test treatments in animal models and patient-derived cells to provide safe, curative solutions.
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Current Projects
- Kickstart Gene Therapy of Myasthenic Syndrome due to Choline Acetyltransferase Deficiency Using AAV9-mediated Gene Therapy (MDA)
- Target COLQ gene therapy for congenital myasthenic syndromes (NIH)
- AAV-mediated gene therapy for congenital myasthenia caused by recessive synaptotagmin 2 mutations (MGFA)
- Treatment of Myasthenic Syndrome due to Choline Acetyltransferase Deficiency Using AAV9-Mediated Gene Therapy (CIRM)
- Kickstart Gene Therapy of Myasthenic Syndrome due to Choline Acetyltransferase Deficiency Using AAV9-mediated Gene Therapy (MDA)
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Our Team
- Jessica Vazquez, B.S.
- Abigail McInees, B.S.
- Jaime Young, B.S.
Clinical Trials
Learn about the different clinical trials we offer.
Giving
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Fellowship Programs and Training Opportunities
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