61. Jan. 26, 2001 MGH Team Identifies Gene That Causes Familial January 26, 2001. MGH team identifies gene that causes familial dysautonomiaMGH researchers have identified the gene that causes http://www.mgh.harvard.edu/DEPTS/pubaffairs/Issues/012601dysautonomia.htm

January 26, 2001 MGH team identifies gene that causes familial dysautonomia MGH researchers have identified the gene that causes familial dysautonomia (FD), a degenerative neurological disorder found in the Ashkenazi Jewish population, whose ancestors originated in Eastern Europe. One in 30 Ashkenazi Jews carries the FD gene, and approximately one in 3,600 individuals is affected. In FD, the autonomic and sensory nervous systems fail to develop fully, resulting in a host of complications ranging from difficulty in swallowing and feeding (in infants) and problems controlling heart rate and blood pressure. Sixty percent of all infants with FD require tube feedings, and many of those affected are born without taste buds or the ability to produce tears. Despite advances in medical treatment, only about 50 percent of patients live to be 30 years old. The MGH team, under the direction of James F. Gusella, PhD (right) , director of the MGH Molecular Neurogenetics Unit, has shown that mutations in a gene named IKBKAP cause FD. The findings will appear in the March issue of the American Journal of Human Genetics . The immediate result of this discovery will be the ability to do carrier testing in the Jewish population. "While genetic testing for at-risk families has been going on for years, our discovery now will permit anyone in the general Jewish population to have carrier testing," says Gusella. In addition to discovering the mutations that can cause FD, Gusella's team has shown that the expression of the mutant gene in FD patients varies depending on what cell types are examined.

62. FoxWeb Message From Dysautonomia More from this topic; Individuals affected with familial dysautonomiaare incapable of producing overflow tears with emotional crying. http://www.healthlinkusa.com/hl/hlsearchsh.fwx?words=ALL&searchtext=Dysautonomia

63. Dysautonomia; Treatment, Prevention, Cure Individuals affected with familial dysautonomia are incapable of producingoverflow tears with emotional crying. Frequent manifestations http://www.healthlinkusa.com/content/664.html

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64. Directory :: Look.com familial dysautonomia (8) See Also. familial dysautonomia Village Resourcefor families, researchers, and clinicians interested in FD. http://www.look.com/searchroute/directorysearch.asp?p=594865

65. FAMILIAL DYSAUTONOMIA (Search FastHealth.com) FAMILIAL DYSAUTONOMIA Dictionary FastHealth Email This! familial dysautonomia n a disorderof the autonomic nervous system that is inherited as an autosomal http://www.fasthealth.com/dictionary/f/familial_dysautonomia.php

Dictionary FastHealth Email This! familial dysautonomia n FastNurse Drug Search Hospital Search Find a Physician ... Dead Links

66. FOCUS - January 26, 2001 Control. Gene for familial dysautonomia Discovered. Fish May Reduce Risk ofStroke in Women. Gene for familial dysautonomia Discovered. Massachusetts http://134.174.17.116/publications/Focus/2001/Jan26_2001/research_briefs.html

Oncology: Mosaic Blood Vessels Could Provide Portal for Metastasis Neurology: Right Brain Appears Quicker than Left at Spotting Self Cell Biology: Protein May Play Double Role in Issuing Genetic Gag Order Neurovirology: New Society Unites Continents, Disciplines in Exploring Viruses Research Resources: Technology Engineering Center Speeds Research Automation at Harvard New Books: The Winter Bookshelf Note on Focus Distribution Study Quantifies Toll of Power Plant Pollution, Benefits from Control Gene for Familial Dysautonomia Discovered Fish May Reduce Risk of Stroke in Women Veterans Hospital Care Matches Quality at Other Hospitals HMS Faculty Council Nominations Being Sought for Society Masters Honors and Advances News Briefs Pain: Our Children Are Not Immune Front Page RESEARCH BRIEFS Study Quantifies Toll of Power Plant Pollution, Benefits from Control Pollution from coal-burning power plants in Illinois is responsible for hundreds of premature deaths and thousands of respiratory illnesses, most of which could be prevented with existing emissions control technology, according to a report by HSPH researchers. Using computer modeling to show how weather patterns disperse particulate matter, sulfur dioxide, and nitrogen dioxide

67. The Health Library — Nervous System And Brain What is familial dysautonomia?Dysautonomia Foundation. familial dysautonomiaNYUSchool of Medicine. familial dysautonomiaUniversity of Pittsburgh PDF. http://healthlibrary.stanford.edu/resources/internet/bodysystems/nervoussystem.h

Diseases and Disorders Use these links to jump directly to your topic of interest: Anatomy Autoimmune Nervous System Diseases Brain Diseases Brain Injury ... Transplantation Nervous System and Brain: Page 2 Page 3 Page 4 Page 5 ... Page 9 General Nervous System and Brain Organizations National Institute of Neurological Disorders and Stroke(NINDS) American Association of Neurological Surgeons (AANS) Overviews Brain and Nervous System Topics:MEDLINEplus Neurologic Diseases ( General) : MEDLINEplus Neurological Disorders Information Index: NINDS Nervous System and Brain Anatomy Anatomy of the Brain:AANS Anatomy of the Spine:AANS Anatomy of the Central Nervous System:University of Leicester Brain Basics: Know Your Brain:NINDS ... Neurobehavioral Anatomy:netLibrary Neurological Diagnostic Procedures Neurological Diagnostic Tests:AANS Computed Tomography (CT) of the Head:Radiological Society of North America Electromyography (EMG) and Nerve Conduction Studies:WebMD Functional MRI of the Brain:Radiological Society of North America ... Magnetic Resonance Imaging (MRI) of the Spine:WebMD Neural Transplantation Neural Transplantation : An Introduction:netLibrary American Society for Neural Transplantation and Repair The Cambridge Centre for Brain Repair:Cambridge University The Neural Transplantation Programme at Brain Repair Center:Cambridge University [PDF] Sleep Disorders Sleep Disorders: MEDLINEplus Brain Basics: Understanding Sleep:NINDS The Nature of Sleep and Its Disorders:National Sleep Foundation Sleep and Aging:National Sleep Foundation ... Let's Talk About When You Have Trouble Going to Sleep:netLibrary [for Kids]

68. Familial Dysautonomia http://www.science.uwaterloo.ca/~dovakim/biol434/

69. The Foundation Was Established About familial dysautonomia (Copyrighted material below reproducedcourtesy of FD Hope). Also known as RileyDay Syndrome (After http://www.fd-israel.org.il/e-dysa.htm

Some common features of FD include: decreased ability to feel pain or temperature sensations inappropriate blood pressure and body temperature fluctuations trouble with feeding, swallowing and gastrointestinal motility decreased body tone - hypotonia developmental delays recurrent pneumonias (from aspiration) skeletal deformities - scoliosis and kyphosis increased sweating transient skin blotching decreased stature lack of overflow tears while crying Presently, there is no cure for this progressive disorder and treatment is aimed at controlling symptoms and avoiding complications. However, once someone is diagnosed with FD, genetic testing is available to their family and relatives. Recently the gene responsible for FD has been discovered and genetic screening for FD is now available. Survival has increased with treatment, and will hopefully continue towards a cure, as more and varied research is done by the research and medical community. Summary Of Familial Dysautonomia Symptoms Familial Dysautonomia affects the autonomic nervous system, the part of the nervous system that controls the "auto-pilot" functions of breathing, swallowing, heart rate changes, blood pressure, and temperature regulation. In other words, the part of the nervous system that manages all the essential functions so that you don't have to think about doing them. It also affects the sensory nervous system, the part of the nervous system that you use to feel pain and temperature. In addition to the main symptoms that make the criteria for the diagnosis, there are many other symptoms that have been seen with Familial Dysautonomia. Most of these are complications of the effect on the nervous system. The following is a list of possible symptoms; no patient will have all of these symptoms and many will experience only a few at a given time:

70. MEL: Dysautonomia Dysautonomia. ClinicalTrials Dysautonomia; Dysautonomia Foundation;familial dysautonomia NYU Medical Center; Israeli familial dysautonomia http://mel.lib.mi.us/health/health-dysautonomia.html

Michigan.gov Home HAL Home MeL Internet MeL Magazines and eBooks Health Information Resources About the Health Collection Back to the Health Index Medline Evaluating Health Information ... Michigan Health and Hospitals Dysautonomia ClinicalTrials - Dysautonomia Dysautonomia Foundation Familial Dysautonomia NYU Medical Center Israeli Familial Dysautonomia Organization National Dysautonomia Research Foundation NINDS Dysautonomia Information National Institute of Neurological Disorders and Stroke MEL Neurological Disorders Page MEL Heart and Cardiovascular System Page Selector and Collection Librarian: Metta Lansdale ( lansdale@mel.org The Health Information Resources section of the Michigan Electronic Library (MEL) provides resources for informational purposes. Health information should always be carefully reviewed with your health care provider. This service is funded in part by the State of Michigan through the Library of Michigan. Additional project support comes from the federal Library Services and Technology Act (LSTA) via the Institute of Museum and Library Services (IMLS) http://mel.org/health/health-dysautonomia.html

71. Clinical Science (2003) 104, 163-169 - C.M. Brown And Others - Orthostatic Respo Orthostatic challenge reveals impaired vascular resistance control, but normalvenous pooling and capillary filtration in familial dysautonomia. http://cs.portlandpress.com/cs/104/cs1040163.htm

Full Text Author Keywords Title Medline/PubMed Citation Related Articles in PubMed Download to Citation Matcher Clinical Science (2003) (Printed in Great Britain) Orthostatic challenge reveals impaired vascular resistance control, but normal venous pooling and capillary filtration in familial dysautonomia Key words: autonomic nervous system, cardiac output, familial dysautonomia, vasoconstriction, venoarteriolar reflex. Abbreviations: CO, cardiac output; FD, familial dysautonomia; MSA, multiple system atrophy; p.u., perfusion units; PAF, pure autonomic failure; TPR, total peripheral resistance; VAR, venoarteriolar reflex. Correspondence: P Received 27 June 2002/22 August 2002; accepted 19 November 2002 Immediate Publications Journal home Current issue ET-7 Supplement 48 ... Library recommendation form Full Text PDF file

72. National Support Groups / Information Sites familial dysautonomia. familial dysautonomia familial dysautonomia VillageFamilial Spastic Paraparesis. Muscular Dystrophy Association http://www.mostgene.org/support/e-f.htm

Directory of Online Genetic Support Groups E-F The inclusion of any resource or link in MoSt GeNe does not imply endorsement. They are provided for educational purposes only. As scientific findings and medicine are changing rapidly, we urge you to note the date of publication of all material you view. Please consult with your health care provider regarding how any information found on the Internet may apply to your own situation. - E - Ectodermal Dysplasia National Foundation of Ectodermal Dysplasia Ectodermal Dysplasia Support Group Ehlers-Danlos syndrome Ehlers-Danlos National Foundation Ehlers-Danlos Association : Canada Ehlers-Danlos Association : Norway Ehlers-Danlos Support Groups : Sweden Epidermolysis Bullosa National Epidermolysis Bullosa Registry (NEBR) Homepage EB Support Group of Colorado Epilepsy Epilepsy Canada Epilepsy Foundation of America Epilepsy Foundation of America Links An incredible selection of links regarding epilepsy - F- 5' Nucleotide Defect : Purine Research Society Fabry Disease International Center for Fabry Disease Fabry Disease Homepage - Germany Factor V Leiden FacioScapuloHumeral Muscular Dystrophy Society, Inc.

73. Genetic News By Judy SiegelItzkovich. familial dysautonomia (FD) is a degenerative and fataldisorder that solely affects people of Ashkenazi (European) Jewish origin. http://www.mfa.gov.il/mfa/go.asp?MFAH0jzy0

74. Ask NOAH About: Genetic Disorders Dysplasia (Dislocation) Corneal Dystrophy Cystic Fibrosis Diabetes Down SyndromeEhlersDanlos Syndrome Epidermolysis Bullosa familial dysautonomia Fragile X http://www.noah-health.org/english/illness/genetic_diseases/geneticdis.html

Ask NOAH About: Genetic Disorders Ask NOAH About: Genetic Disorders is a work-in-progess on diseases that have a known or suspected genetic origin. This page will attempt to keep pace with the the Human Genome Project's published breakthoughs on genetic medicine. If the genetic disorder you need information on is not listed here, please try the NOAH search engine . For information on basic genetics, please visit Ask NOAH About: Genetics, Genomes, Cell Biology, and Cloning What are Genetic Diseases? Genetics Basics The Basics Glossaries Children ... Living with Genetic Diseases Specific Conditions Achromatopsia Adrenoleukodystrophy Aicardi Syndrome Albinism/Hypopigmentation ... Information Resources What Are Genetic Diseases? Genetics Basics The Basics Birth Defects - Merck Manual, Home Edition Changes to Chromosomes - New South Wales Genetics Program, Australia Changes to Chromosomes: Translocations - New South Wales Genetics Program, Australia ... Genetics and Neuromuscular Diseases - Muscular Dystrophy Association (also in Spanish Genetics Overview - Merck Manual Home Edition Genes and Disease - NCBI ... What are Genetic Disorders? - U of Utah

75. Dysautonomia Dysautonomia. familial dysautonomia, RileyDay Syndrome, HSAN III (hereditarysensory and autonomic neuropathy, type III) Dysautonomia Foundation, Inc. http://www.kumc.edu/gec/support/dysauton.html

Dysautonomia Familial Dysautonomia, Riley-Day Syndrome, HSAN III (hereditary sensory and autonomic neuropathy, type III) Dysautonomia Foundation, Inc. 633 Third Avenue, 12th Floor New York, NY 10017-6706 Tel: 212-949-6644 Fax: 212-682-7625 E-mail: fdinfo@videobureau.com Web site: http://www.familialdysautonomia.org/ National Dysautonomia Research Foundation (NDRF) PO Box 211153 Eagan, MN 55121-2553 Phone: (651)267-0525 Fax: (651)267-0524 Web site: http://www.ndrf.org/ National Foundation for Jewish Genetic Diseases 250 Park Avenue, Suite 1000 New York, NY 10177 Phone: 212-682-5550 Also See: National organizations genetic conditions or birth defects Israeli Dysautonomia Foundation (in Hebrew) NICHCY State Resource Sheets programs and advocacy groups by state Familial Dysautonomia Village , Newton, NC includes genetics of dysautonomia To locate a genetic counselor or clinical geneticist: Professional Genetics Societies Genetic clinics, centers, departments Revised March 1, 2001 Genetic Societies Clinical Resources Labs Clinics ... Search Genetics Education Center Debra Collins, M.S. CGC

76. Found: Mutation For Deadly Nerve Disorder: Science News Online, Jan. 27, 2001 Two research teams have discovered the genetic mutation that causes familial dysautonomia,a lethal hereditary disease that causes nervous system damage. http://www.sciencenews.org/20010127/fob8ref.asp

Math Trek Scheduling Random Walks Food for Thought Academic impacts of vegetarian childhoods Science Safari Eye above the Timberline TimeLine 70 Years Ago in Science News Week of Jan. 27, 2001; Vol. 159, No. 4 Found: Mutation for deadly nerve disorder Two research teams have discovered the genetic mutation that causes familial dysautonomia, a lethal hereditary disease that causes nervous system damage. References: Anderson, S.L. . . . and B.Y Rubin. In press. Familial dysautonomia is caused by mutations of the IKAP gene. American Journal of Human Genetics Slaugenhaupt, S.A. . . . F.B. Axelrod, and J.F. Gusella. In press. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. American Journal of Human Genetics Further Readings: Blumenfeld, A. . . . and J.F. Gusella. 1999. Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 8q31. American Journal of Human Genetics 64(April):1110. Cohen, L., W.J. Henzel, and P.A. Baeuerle. 1998. IKAP is a scaffold protein of the IkappaB kinase complex. Nature 395(Sept. 17):292.

77. Vanderbilt University Autonomic Dysfunction Center - Dopamine Beta Hydroxylase D The syndrome differs from familial dysautonomia and various other autonomic disordersseen in adults in that the defect can be localized to the noradrenergic http://www.mc.vanderbilt.edu/gcrc/adc/dopamine.html

Overview History Faculty Research ... Patient Information Dopamine Beta Hydroxylase Deficiency Norepinephrine and epinephrine are crucial determinants of minute-to-minute neural regulation of blood pressure and are also present at crucial central nervous system sites likely to be involved in a variety of behaviors. Norepinephrine and epinephrine thus seem so important to human beings that it seemed unlikely for many years that subjects without these catecholamines would survive the perinatal period and develop to adulthood. This view has changed with recognition of a congenital syndrome of severe orthostatic hypotension noradrenergic failure , and ptosis of the eyelids in two young adults. The syndrome differs from familial dysautonomia and various other autonomic disorders seen in adults in that the defect can be localized to the noradrenergic and adrenergic tissues. There is virtual absence of norepinephrine, epinephrine, and their metabolites. However, there is greatly increased dopamine in plasma, cerebrospinal fluid, and urine.

78. Being Jewish - Winter 2002 - When Your Children Cry, Do They Have Tears? Jordan, age eight,and our two twin girls, Samantha and Maxine, age seven, were alldiagnosed with a rare genetic disease called familial dysautonomia, or Riley http://www.beingjewish.org/magazine/winter2002/article4.html

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79. Avera Health - Riley-Day Syndrome familial dysautonomia; Hereditary sensory and autonomic neuropathy type III.Causes, incidence, and risk factors familial dysautonomia Hope, Inc. http://www.avera.org/adam/ency/article/001387.htm

Disease Injury Nutrition Poison ... Chromosomes and DNA Riley-Day syndrome Definition: An inherited disorder that affects sensory and autonomic nerve function in many body parts/systems. Alternative Names: Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III Causes, incidence, and risk factors: Riley-Day syndrome is inherited as an autosomal recessive trait that is found predominantly in the European Jewish population (Ashkenazi Jews). The disease is caused by mutation of the IKBKAP gene on chromosome 9. It is not rare in Ashkenazi Jews where the incidence is estimated to be 1 in 3700 people. Infants with this condition have feeding problems and develop pneumonia caused by inhalation of their formula and food. Episodic vomiting and sweating spells begin following infancy. Young children also have breath-holding spells that produce unconsciousness Insensitivity to pain is a hallmark of Riley-Day syndrome and leads to unnoticed injuries or injuries that might not have occurred had the child sensed discomfort. Children do not feel the normal sensations that generally warn of impending injury such as drying of the eyes, pressure over pressure points, and chronic rubbing and chaffing.

80. ADVANCE For Medical Laboratory Professionals Online | Past Online Articles familial dysautonomia New funding for treatment and research An organizationof parents who have children with familial dysautonomia http://www.advanceformlp.com/pastarticles/apr30_01feature3.html

Create username. Username Password help? HOME ARTICLES OF INTEREST LEARNING SCOPE ... MAKE US YOUR HOME PAGE Familial Dysautonomia New funding for treatment and research An organization of parents who have children with familial dysautonomia (FD) will provide up to $1 million in grants per year to support research for the development of a cure for the degenerative neurological disorder that occurs almost exclusively among Ashkenazi Jews. The organization also announced screening programs are now being set up at NYU Medical Center and Mt. Sinai Hospital, in New York, and at Hadassah University Hospital, in Israel, for all people at risk. In babies born with FD, the autonomic and sensory nervous systems fail to develop fully. They have trouble swallowing and sucking, and 60 percent require tube feedings. The diagnosis of this baffling disease often is missed and treatment delayed. Patients also have problems controlling their heart rates and blood pressure, and they have no taste buds or tears. Despite improvements in medical treatment, only about 50 percent of patients live to the age of 30. The Dysautonomia Foundation made its new commitment following an announcement in January that a team of scientists at Massachusetts General Hospital (MGH) had identified the gene that causes FD. The foundation has been the main supporter of the research at MGH and has been the sole funding agency for the FD clinical care program at the NYU Medical Center and Hadassah Hospital.

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