Focus Areas in the Genomic Medicine Cycle
Major leadership positions

Director, Center for Rare Neurological Diseases

Associate Professor of Neurology at Harvard Medical School

MGH Department/Division

Pediatric Neurology


Our lab studies monogenetic lipid metabolism disorders of the nervous system.

Our laboratory at MGH explores the relationship of mutant genes to specific biochemical defects and their contribution to neurodegeneration. To develop novel treatments, our laboratory assesses the consequences of disease causing genes. A large focus of our efforts lies in advancing new gene therapy trials for rare neurological diseases. This encompasses ex vivo lentiviral and in vivo AAV- based approaches as trials of antisense oligonucleotides.

Priority Projects

  1. Molecular Insights into Hereditary Sensory Neuropathy Type 1 (HSN1): We discovered a substrate dependence of the lipid accumulation and found it to be specific to vulnerable tissue in the nervous system. These insights helped explain why widely expressed SPTLC1 mutations led to damage of specific structures in the nervous system.
  2. Treatment Development and Biomarkers for Peripheral Neuropathies: We discovered the neurotoxic sphingolipids accumulating in type 2 diabetes and extended my work to diabetic polyneuropathy patients.
  3. Elucidating the Pathophysiology of Adrenoleukodystrophy: Using both imaging tools and post mortem pathological analysis, I have contributed to the understanding of disease progression and the pathophysiology of adrenoleukodystrophy
  4. AAV Mediated Gene Therapy for Adrenomyeloneuropathy (AMN): we are developing AAV mediated gene therapy for AMN using recombinant adenoassociated virus serotype 9 (rAAV9) vector for delivery of the human AB

Lab Members

Yi Gong, PhDygong4 [@] mgh.harvard.eduResearch Scientist
Amanda Nagy, MDanagy2 [@] partners.orgClinical Fellow in Neurogenetics and Gene Therapy
April Ai Rou Qianaqian [@] mgh.harvard.eduResearch Technician
Haley Andonianhandonian [@] mgh.harvard.eduSenior Clinical Research Coordinator
Claudia Maria Brito Pirescbritopires [@] partners.orgClinical Research Coordinator
Stacy Macielsmaciel [@] mgh.harvard.eduClinical Research Coordinator/Research Administrator
Melissa Bamberymbambery1 [@] mgh.harvard.eduClinical Research Coordinator
Cary Peregoycperegoy [@] partners.orgClinical Research Coordinator
Natalie Grantnrgrant [@] mgh.harvard.eduClinical Research Coordinator
Lab/Contact Telephone




Primary Email

feichler [@]

Lab Website