eichler.mgh.harvard.edu

- Laboratory of Florian Eichler MD

For Lab Members Only. Under the direction of Dr. Florian Eichler, MD,. Our lab studies monogenetic lipid metabolism. Disorders of the nervous system at the. Massachusetts General Hospital, Harvard Medical School, Boston MA. 1 Hereditary Sensory Autonomic Neuropathy, Type1 (HSAN1). 2 X-linked Adrenoleukodystrophy (X-ALD). Magnetic resonance imaging findings in patients with specific hereditary leukodystrophies:. A) X-linked adrenoleukodystrophy, (B) Metachromatic leukodystrophy, (C) Krabbe disease.

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- Laboratory of Florian Eichler MD | eichler.mgh.harvard.edu Reviews

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For Lab Members Only. Under the direction of Dr. Florian Eichler, MD,. Our lab studies monogenetic lipid metabolism. Disorders of the nervous system at the. Massachusetts General Hospital, Harvard Medical School, Boston MA. 1 Hereditary Sensory Autonomic Neuropathy, Type1 (HSAN1). 2 X-linked Adrenoleukodystrophy (X-ALD). Magnetic resonance imaging findings in patients with specific hereditary leukodystrophies:. A) X-linked adrenoleukodystrophy, (B) Metachromatic leukodystrophy, (C) Krabbe disease.

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4 publications

5 introduction to lipids

6 news

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9 directions

10 funding sources

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- Laboratory of Florian Eichler MD | eichler.mgh.harvard.edu Reviews

https://eichler.mgh.harvard.edu

For Lab Members Only. Under the direction of Dr. Florian Eichler, MD,. Our lab studies monogenetic lipid metabolism. Disorders of the nervous system at the. Massachusetts General Hospital, Harvard Medical School, Boston MA. 1 Hereditary Sensory Autonomic Neuropathy, Type1 (HSAN1). 2 X-linked Adrenoleukodystrophy (X-ALD). Magnetic resonance imaging findings in patients with specific hereditary leukodystrophies:. A) X-linked adrenoleukodystrophy, (B) Metachromatic leukodystrophy, (C) Krabbe disease.

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Funding Sources - Laboratory of Florian Eichler MD

http://eichler.mgh.harvard.edu/funding-sources

For Lab Members Only. Our work has been graciously supported by the following institutions:. 2009-2013 N.I.H., U01 NS064096, AAV-mediated gene therapy for GM2- gangliodoses. FE, Investigator. 2010-2015 N.I.H., R01 NS072446-01, The Role of Desoxysphingoid bases in HSAN1. FE, P.I. 2011-2013 National Tay Sachs and Allied Diseases Foundation, Clinical Outcome Measures for a Gene Therapy Trial in Infantile and Juvenile GM2. FE, P.I. The lab’s publications, Read More ». A What is a lipid and why are they impor...

2

HSAN1 - Laboratory of Florian Eichler MD

http://eichler.mgh.harvard.edu/hsan1

For Lab Members Only. Our research is currently focused on treating this disorder with L-serine supplementation. Our studies in culture, mice and humans have indicated that supplementation can rapidly lower the levels of dSL’s. Below is a figure reporting our findings in a 12 week pilot study with 14 human patients:. Learn more about HSN1 and support the Deater Foundation here: http:/ www.deaterfoundation.org/. Tay Sachs Disease is categorized as a GM2 gangliosidoses neuropathy. Read More ».

3

Introduction to Lipids - Laboratory of Florian Eichler MD

http://eichler.mgh.harvard.edu/introduction-to-lipids

For Lab Members Only. A What is a lipid and why are they important? 8211; Lipids are naturally occurring, hydrophobic molecules that include fats, waxes, sterols, phospholipids and others. 8211; Lipids make up 70% of the dry weight of the nervous system. They are crucial to healthy functioning of nerve cells. 8211; Lipids are important to basic biological functions such as energy storage, membrane structure, myelin, and signaling molecules. B What lipids do we study (associated disease in parentheses)?

4

Links - Laboratory of Florian Eichler MD

http://eichler.mgh.harvard.edu/links

For Lab Members Only. X-linked adrenoleukodystrophy (X-ALD), also known as “Lorenzo’s Oil” Brain Disease. Read More ». Tay Sachs Disease is categorized as a GM2 gangliosidoses neuropathy. Read More ». The lab’s publications, Read More ». Hereditary sensory and autonomic neuropathy type I (HSAN1) is characterized by early sensory involvement affecting pain and temperature due to a length-dependent axonal neuropathy. Read More ». A What is a lipid and why are they important? Read More ».

5

News - Laboratory of Florian Eichler MD

http://eichler.mgh.harvard.edu/category/news

For Lab Members Only. Full scale L-serine clinical trials to start in HSN1. August 10th, 2011. Funding has recently been secured through the FDA to begin a full scale trial of L-serine supplementation in patients with HSAN1. This is the first potential treatment for HSAN1. More details to follow. X-linked adrenoleukodystrophy (X-ALD), also known as “Lorenzo’s Oil” Brain Disease. Read More ». Tay Sachs Disease is categorized as a GM2 gangliosidoses neuropathy. Read More ». Read More ».

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iddrc.org

All seminars conducted by the Childrenâs Hospital Boston Intellectual and Developmental Disabilities Research Center (IDDRC)

http://www.iddrc.org/childrens-hospital-boston/index.php/conferences

History of the IDDRC. Alan Beggs, PhD. Next Lab Result Presentation. Next Neurology Grand Rounds. Wed, September 07, 2016. Anne Anderson, M.D. Tue, September 13, 2016. Florian S. Eichler, M.D. Genetic Engineering" and Gene Therapy. Upcoming IDDRC Seminars and Events. View All Upcoming IDDRC Seminars. Upcoming Neurology Grand Rounds. Wed, September 07, 2016. Speaker: Anne Anderson, M.D. From Texas Children's Hospital. Location and Additional Information. Wed, September 21, 2016. Tue, September 13, 2016.

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Childrenâs Hospital Boston Intellectual and Developmental Disabilities Research Center (IDDRC)

http://www.iddrc.org/childrens-hospital-boston/index.php

History of the IDDRC. Alan Beggs, PhD. Next Lab Result Presentation. Next Neurology Grand Rounds. Wed, September 07, 2016. Anne Anderson, M.D. Tue, September 13, 2016. Florian S. Eichler, M.D. Genetic Engineering" and Gene Therapy. Children’s Hospital Boston Intellectual and Developmental Disabilities Research Center (IDDRC). Alan Beggs, PhD. Sir Edwin and Lady Manton Professor of Pediatrics, Harvard Medical School. Director, The Manton Center, Boston Children’s Hospital. Next Neurology Grand Rounds.

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eichler.mgh.harvard.edu

- Laboratory of Florian Eichler MD

For Lab Members Only. Under the direction of Dr. Florian Eichler, MD,. Our lab studies monogenetic lipid metabolism. Disorders of the nervous system at the. Massachusetts General Hospital, Harvard Medical School, Boston MA. 1 Hereditary Sensory Autonomic Neuropathy, Type1 (HSAN1). 2 X-linked Adrenoleukodystrophy (X-ALD). Magnetic resonance imaging findings in patients with specific hereditary leukodystrophies:. A) X-linked adrenoleukodystrophy, (B) Metachromatic leukodystrophy, (C) Krabbe disease.

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