Familial Dysautonomia
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What is familial dysautonomia?
Familial dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It also affects the sensory nervous system, which controls activities related to the senses, such as taste and the perception of pain, heat, and cold. Familial dysautonomia is also called hereditary sensory and autonomic neuropathy, type III.
Problems related to this disorder first appear during infancy. Early signs and symptoms include poor muscle tone (hypotonia), feeding difficulties, lack of tears, and difficulty maintaining body temperature. Developmental milestones, such as walking and speech, are usually delayed. Characteristic symptoms in older children and adults include poor balance, curvature of the spine (scoliosis), episodes of vomiting, frequent lung infections, reduced sensitivity to pain and temperature changes, abnormal sense of taste, poor regulation of blood pressure, and heart problems.
How common is familial dysautonomia?
In populations of individuals with Central or Eastern European (Ashkenazi) Jewish ancestry, familial dysautonomia occurs in about 1 in 3,700 people. This disorder is rare in the general population.
What genes are related to familial dysautonomia?
Mutations in the IKBKAP gene cause familial dysautonomia.
Nearly all individuals with familial dysautonomia have two copies of the same mutation in each cell, which causes part of the IKBKAP gene to be skipped when it is copied for production of the IKAP protein. This skipping mutation results in a decreased amount of IKAP protein in their cells. This mutation, however, behaves inconsistently. As a result, some cells produce near normal amounts of IKAP protein, and other cells?particularly nerve cells?have very little IKAP protein. Critical activities in nerve cells are probably disrupted by reduced amounts or the absence of IKAP protein, leading to the signs and symptoms of familial dysautonomia.
How do people inherit familial dysautonomia?
This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not show signs and symptoms of the disorder.
Source: National Institutes of Health
The New york Stem Cell Foundation Awards Fellowships to Four Innovative Stem Cell Scientists
2009 JUN 22 - (NewsRx.com) -- The New York Stem Cell Foundation (NYSCF) announced the award of four new NSYCF-Stanley and Fiona Druckenmiller Fellows. These New York-based post-doctoral scientists join 13 extraordinarily accomplished stem cell researchers from leading research institutions who have been supported by the fellowships program since 2006. The program has committed $5,000,000 to date to training the next generation of stem cell scientists who are performing advanced stem cell research in the United States. "These gifted scientists are innovating the stem cell technology that is revolutionizing medicine," said Susan L. Solomon, NYSCF CEO. "For example, second-year NYSCF Fellow Dr. Justin Ichiida has identified chemical compounds that allow adult stem cells to be reprogrammed without the use of cancer-causing genes." She also noted that NYSCF Fellows have published scientific papers in the most prestigious scientific journals, including Science, Nature and Cell. "Their accomplishments are impressive," she continued. "Through its Fellowship Program, NYSCF is ensuring that the next generation of researchers has the knowledge and expertise in cutting-edge techniques that will be required to lead their field as it grows," said Shahin Rafii, MD, Director of The Ansary Center for Stem Cell Therapeutics at Weill Medical College, Cornell University, and co-chair of the NYSCF Fellowship Review Committee and member of NYSCF's Medical Advisory Board. Each of the scientists will receive funding over a three-year period to support their research initiatives. They will have access to NYSCF's specialized stem cell laboratory in Manhattan, where they will be able to conduct their research and receive training in advanced stem cell research techniques. The fellows will also present their work at NYSCF's Annual International Translational Stem Cell Research Conference, to be held on October 13 and 14, 2009 at Rockefeller University in New York City. "Stem cell research holds the promise of helping millions of Americans affected by Parkinson's, Type 1 diabetes, Alzheimer's, heart disease, ALS, cancer and other devastating conditions," said Solomon. "Each of these brilliant young researchers is doing groundbreaking work that may bring us closer to therapies and cures for these major diseases." The New York Stem Cell Foundation Fellows are applying stem cell technologies towards the development of therapeutics for a variety of medical conditions. The 2009 Fellows: • Nuria Flames, PhD, working with Dr. Oliver Hobert at Columbia University, is developing ways to produce dopaminergic neurons for therapeutic treatment of Parkinson's disease. • Valentina Fossati, PhD, working with Dr. Hans Snoeck at Mount Sinai School of Medicine, is producing thymus cells from human pluripotent stem cells for the treatment of immune deficiencies and many autoimmune diseases, like DiGeorge Syndrome and diabetes, caused by loss of thymus function. • Dung-Fang Lee, PhD, working with Dr. Ihor Lemischka at Mount Sinai School of Medicine, is developing improved methods for maintenance of human embryonic stem cells and production of mature cell types for transplantation-based therapies. • Gabsang Lee, PhD, working with Dr. Lorenz Studer of Memorial Sloan-Kettering Cancer Center, is using disease-modeling in human pluripotent stem cells to develop novel therapeutic agents for a hereditary nervous system condition, Familial Dysautonomia. The New York Stem Cell Foundation Fellowship Program is significantly supported by a generous gift from Stanley and Fiona Druckenmiller and by an anonymous donor. For more information, visit www.nyscf.org. # # # About The New York Stem Cell Foundation Founded in 2005, the New York Stem Cell Foundation (NYSCF) is a privately funded organization dedicated to furthering stem cell research to advance the search for cures of the major diseases of our time. The Foundation opened the first privately funded human embryonic stem cell (hESC) laboratory in New York in March 2006 to serve as a "safe haven" where scientists from academic medical centers in the New York area and throughout the East Coast can conduct advanced hESC research free of the federal restrictions that limit the scope of government-supported work. The organization's mission is to support scientists engaged in stem cell research through grants, fellowships and symposia; to educate the public about the importance and potential benefits of hESC research and somatic cell nuclear transfer; and to establish collaborative, state-of-the-art research facilities directly focused on curing disease. Rubenstein Communications, Inc. Public Relations Contact: Nadine Woloshin 212-843-8041; nwoloshin@rubenstein.com Keywords: Alzheimer Disease, Amyotrophic Lateral Sclerosis, Cancer, Heart Disease, Insulin Dependent Diabetes Mellitus, Oncology, Stem Cell Research, Therapy, Treatment, Type 1 Diabetes. This article was prepared by Pain & Central Nervous System Week editors from staff and other reports. Copyright 2009, Pain & Central Nervous System Week via NewsRx.com.
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