The EICHLER Lab
from bench
to bedside
We study monogenetic lipid metabolism disorders of the nervous system by exploring the relationship of mutant genes to specific biochemical defects and their contribution to neurodegeneration.
The Eichler Lab is located in the Center for Genomic Medicine at Massachusetts General Hospital, and the Department of Neurology at Massachusetts General Hospital and Harvard Medical School.
Research areas
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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.
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We discovered the neurotoxic sphingolipids accumulating in type 2 diabetes and extended my work to diabetic polyneuropathy patients.
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Using both imaging tools and post mortem pathological analysis, I have contributed to the understanding of disease progression and the pathophysiology of adrenoleukodystrophy
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we are developing AAV mediated gene therapy for AMN using recombinant adenoassociated virus serotype 9 (rAAV9) vector for delivery of the human AB
Recent Publications
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![Oranssi project: studio shed]()
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia
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![Oranssi project: roof expansion]()
Peroxisome Metabolism Contributes to PIEZO2-Mediated Mechanical Allodynia
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![Oranssi project: wraparound deck]()
Peroxisomal very long-chain fatty acid transport is targeted by herpesviruses and the antiviral host response
In the news
What we’ve been up to at the research bench, in the clinic, and elsewhere.
INNOVATION STORY
ALD: Gene Therapy and the Gift of a Future
An experimental gene therapy developed by Mass General’s Florian Eichler, MD, is giving hope to patients and families impacted by ALD — a fatal brain disease affecting boys under the age of 12.
June 14, 2022
“I can only imagine the heartbreak these families feel when they watch their loved one struggle with progressive symptoms. I am inspired by their determination — and grateful for their partnership in our efforts to find answers.”
INNOVATION STORY
The Painstaking Path to the Cures
Behind the scenes, researchers carefully construct the foundations for life-changing therapies. Yi was interviewed for this story and spoke about her passion for helping patients with ALD through studying the molecular underpinnings of rare neurodegenerative diseases.
November 1, 2022