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Hereditary sensory and autonomic neuropathy 3

Familial Dysautonomia
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Overview

Type of Disease: Rare Condition or Disease Genetic, autosomal recessive Congenital onset Behavioral and mental health disorders

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Genetic & Rare Diseases Information Center (GARD) GARD provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish.

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Displaying 1-3 of 3 results.
The Mentsch Behind the Microscope: Dr. Berish Rubin and His Mission
Publish Date: Sep 3, 2008
Category: General
Language(s): English
Dr. Berish Rubin is a researcher whose devotion, compassion, and burning sense of mission has transformed the lives of Jewish families around the globe. He has dramatically improved the lives of those grappling with an incurable genetic illness.
Familial dysautonomia is caused by mutations of the IKAP gene
Publish Date: Jan 10, 2001
Category: General
Language(s): English
Dr. Berish Rubin was the first in the world to submit an article demonstrating that FD is caused by mutations in the IKBKAP gene.
IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies
Publish Date: Dec 15, 2017
Category: General
Language(s): English
Dr. Berish Rubin, the first in the world to submit an article demonstrating that FD is caused by mutations in the IKBKAP gene, reviews his resulting treatment breakthroughs.