1. Hereditary Sensory Autonomic Neuropathy, Type1 (HSAN1) – We utilize genetic mouse models of HSAN1 to study the mechanisms of disease progression. Current research is focused on a novel treatment for the disorder with L-serine. Recently we demonstrated a rescue of the disease phenotype after supplementing the diets of transgenic mice with L-serine. In addition to our mouse work, we are also involved in a large scale trial of L-serine in humans. Pilot studies indicate that this amino acid, taken three times a day, can drastically lower the neurotoxic lipids that are the hallmark of HSAN1.
2.X-linked Adrenoleukodystrophy (X-ALD) – This rare, cerebral demyelinating disorder has devastating effects, but is poorly understood. While the gene responsible for the disease, ABCD1, has been identified, little is currently known about how mutations to this gene result in the inflammatory disease seen in patients. Using in vivo and in vitro techniques we study this enigmatic ABCD1 gene in order to better understand potential mechanisms of disease onset. Dr. Eichler is also involved in a consortium of scientists beginning trials on gene therapy in select early onset cerebral patients.
Magnetic resonance imaging findings in patients with specific hereditary leukodystrophies:
3. Tay Sachs – A hereditary disease of the nervous system resulting from an abnormal protein responsible for the degradation of certain lipids, known as gangliosides. We are currently involved in the collection of life history data on a large set of patients. Through this work we hope to gain a better understanding of the progression of this diseases, so as to improve treatment regimens.
We study lipids!
Introduction to lipids we analyze & how abnormalities lead to neuropathy.