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Canavan Disease:     more books (15)

The Official Parent's Sourcebook on Canavan Disease: A Directory for the Internet Age by Icon Health Publications, 2005-01-30 Canavan Disease - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-09-16 Neurochemistry of Metabolic Diseases - Lysosomal Storage Diseases, Phenylketonuria and Canavan Disease by Edited by Sankar Surendran, 2007-01-01 Ashkenazi Jews Topics: Yiddish Language, Tay-Sachs Disease, Canavan Disease, Ashkenazi Jews, Kitniyot 21st Century Complete Medical Guide to Degenerative Nerve Diseases, Adrenoleukodystrophy, Leukodystrophy, Rett Syndrome, Canavan Disease, Ataxias, Authoritative ... for Patients and Physicians (CD-ROM) by PM Medical Health News, 2004-04-01 Canavan disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Lisa, MS, CGC Andres, 2005 Autosomal recessive disorders: Tay-Sachs disease, Phenylketonuria, Cystic fibrosis, Canavan disease, Wilson's disease, Lafora disease Canavan Disease - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20 Canavan disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Lisa, MS, CGC Andres, Rosalyn, MD Carson-DeWitt, 2005 Leukodystrophies: Adrenoleukodystrophy, Canavan Disease, Pelizaeus-Merzbacher Disease, Metachromatic Leukodystrophy, Krabbe Disease Lysosomal Storage Diseases: Tay-Sachs Disease, Canavan Disease, Sly Syndrome, Neuronal Ceroid Lipofuscinosis, Mucopolysaccharidosis Canavan disease Toxic Torts: Tort Actions for Cancer and Lung Disease Due to Enviornmental Pollution by Paul D., Norman J. Landau, And Michael M. Canavan {Authors And Editors} Rheingold, 1977-01-01 TOXIC TORTS: TORT ACTIONS FOR CANCER & LUNG DISEASE DUE TO ENVIRONMENTAL POLLUTION by Paul D., Norman J. Landau, & Michael M. Canavan, Editors Rheingold, 1977

lists with details

41. About Canavan Disease
    What is canavan disease? canavan disease is a fatal genetic neurological disorder that deteriorates the white matter in the brain.  
    http://www.canavandisease.org/Canavan_Disease.html
    
    Extractions: In children with Canavan disease, a defective gene prevents the production of an enzyme responsible for breaking down an acid called NAA. An over accumulation of NAA in the brain is thought to drastically hinder healthy white matter formation, making the afflicted children incapable of holding up their heads, sitting or even speaking.

42. Canavan Research Illinois_Home
    Our son, Max Randell was only four months old when diagnosed with canavan disease. We wasted no time rallying together to fight for his life.  
    http://www.canavandisease.org/

43. Canavan Disease Patent Case
    canavan disease Patent Case. The Canavan Case is a case study that examines the use of a patent covering the molecular diagnosis of disease.  
    http://www.bioethics.upenn.edu/prog/benefit/canavan.shtml
    
    Extractions: Home Canavan Disease Patent Case The Research The Patent and Licensing Ethical Issues ... Discussion The Canavan Case is a case study that examines the use of a patent covering the molecular diagnosis of disease. This case has come to symbolize some of the negative effects gene patents may have on the provision of clinical medical services. The case has also caused many to consider the need for benefit sharing as one way for recognizing the contribution of patient groups and families to research and discovery. This essay is abstracted from a longer paper appearing as a chapter entitled Discoveries: Are There Limits on What may be Patented? in Who Owns Life? (Magnus D, Caplan A, McGee G, eds. Amherst NY: Prometheus Books, 2002). The study of this case was supported in part by grants from the Greenwall Foundation, the Charles E. Culpeper Foundation, the NIH, DOE and VA Consortium on Informed Consent Research, and a grant from the Dodge Foundation. I am indebted to Judith Tsipis, Daniel Greenberg, and Orren Alperstein Gelblum for sharing their personal stories and experiences with Canavan disease and the described research project, for actively involving me in their unfolding saga with Miami Children's Hospital, for freely sharing background information on the case, and for reading and commenting on earlier drafts of this manuscript; knowledge about the Canavan disease gene, like this chapter, would not exist but for their contributions. I received an honorarium from the Canavan Foundation for participating in the aforesaid meeting with MCH, and I have agreed to provide

44. Canavan Disease Patient Case
    The Research. In 1981, Dan and Debbie Greenberg had a son, Jonathan. After Jonathan failed to thrive, he was diagnosed with canavan disease.  
    http://www.bioethics.upenn.edu/prog/benefit/canavanA.shtml
    
    Extractions: Home Canavan Disease Patent Case The Research The Patent and Licensing Ethical Issues ... Discussion In 1981, Dan and Debbie Greenberg had a son, Jonathan. After Jonathan failed to thrive, he was diagnosed with Canavan Disease. Canavan is a recessive genetic disease that will strike on average 1 of 4 children of couples when both parents carry a gene mutation that causes the disease. It is a degenerative spongiform brain disease that irreversibly leads to loss of body control and death, usually before the teen years. [i] There is no cure. In 1983, the Greenbergs had another child, Amy, who, against the odds, also was stricken with the disease. In 1987, Dan Greenberg approached Dr. Reuben Matalon and convinced him to study Canavan Disease. Matalon ran a laboratory performing clinical testing and research of phenylketonuria (PKU) and other familial disorders at the University of Illinois in Chicago. With blood, urine, and other tissue samples provided by the Greenbergs and another family affected by the disease, and “seed money” provided by Greenberg’s Chicago chapter of the National Tay-Sachs and Allied Diseases Association (NTSAD), within a year Matalon identified the deficiency of an enzyme, aspartoacylase, as the cause of Canavan Disease. This was great news, because it offered the possibility of a prenatal screening test.

45. Canavan Disease
    canavan disease. Definition canavan disease is an inherited disorder of aspartic acid metabolism. It is characterized by degeneration  
    http://www.drkoop.com/ency/article/001586.htm
    
    Extractions: Causes, incidence, and risk factors: Canavan disease is inherited as an autosomal recessive trait. It is more common among Ashkenazi Jews than in the general population. A deficient enzyme , aspartoacylase, results in the accumulation of N-acetylaspartic acid in the brain. This causes a degeneration of the white matter. Typically, symptoms begin in the first year of life with loss of developmental milestones and death before 18 months of age.

46. The Scientist - Gene Therapy Targets Canavan Disease
    RESEARCH. Gene Therapy Targets canavan disease. Clinical trial is first to use recombinant viruses in the brain to prevent neurodegeneration. Why canavan disease?  
    http://www.the-scientist.com/yr2001/sep/research2_010917.html
    
    Extractions: Days after learning that their project would survive, thanks to a newly awarded $1.8 million National Institutes of Health grant, researchers at Jefferson Medical College in Philadelphia made medical history on June 5. During a three-hour operation, neurosurgeon Andrew Freese cut six small holes into a girl's skull. Through hair-thin catheters, he then infused areas of her brain with 90 billion virus particles that are expected to infect neurons and express a normal human gene that she lacks. By all accounts, Lindsay Karlin , a 6-year-old afflicted with Canavan disease, thereby became the first person to have recombinant viruses injected into her brain to treat an illness other than cancer. The Canavan trial signals a new phase in a 10-year offensive that gene therapy researchers have waged against neurodegenerative disorders. Previously limited mostly to cell-culture and animal experiments, the scientists are now poised or starting to take their protocols and reagents to the clinic.

47. ACMG Position Statement On Carrier Testing For Canavan Disease
    Position Statement on Carrier Testing for canavan disease. canavan disease is a serious incurable genetic disorder which causes mental  
    http://www.acmg.net/resources/policies/pol-003.asp
    
    Extractions: Position Statement on Carrier Testing for Canavan Disease Canavan Disease is a serious incurable genetic disorder which causes mental retardation and is often fatal in childhood. It is cased by a genetic abnormality which produces a deficiency of the enzyme aspartoacylase and is inherited in an autosomal recessive pattern. Like Tay-Sachs Disease, Canavan Disease occurs at a higher frequency in individuals with Ashkenazi Jewish ancestry, estimated to be 1/40. The screening test to identify individuals who are carriers is a DNA-based test that is performed by only a few specialized laboratories. If both reproductive partners have an Ashkenazi Jewish background, we recommend that carrier testing for Canavan Disease be offered before pregnancy. If only one partner is of Ashkenazi Jewish descent, she/he should be offered carrier testing and the couple should be counseled regarding the limitations and benefits of carrier testing and prenatal diagnosis for this situation. If a family member is affected, the proband's mutation(s) should be defined and the relatives should be offered screening for this mutation(s). This screening could be combined with screening for Tay-Sachs Disease as both disorders are more common in the same ethnic group.

48. Canavan Disease
    canavan disease. Although canavan disease may occur in any ethnic group, it affects persons of Eastern European Jewish ancestry more frequently.  
    http://www.fact-index.com/c/ca/canavan_disease.html
    
    Extractions: Main Page See live article Alphabetical index Canavan disease is a rare, inherited, neurological disorder characterized by spongy degeneration of the brain (in which the white matter is replaced by microscopic fluid-filled spaces). It is caused by a deficiency of an enzyme called aspartoacylase. Canavan disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath of the nerve fibers in the brain. The myelin sheath is the fatty covering surrounding nerve cells that acts as an insulator. Symptoms of Canavan disease, which appear in early infancy and progress rapidly, may include mental retardation, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (i.e., floppiness or stiffness), poor head control, and megalocephaly (abnormally enlarged head). Paralysis, blindness, or hearing loss may also occur. Although Canavan disease may occur in any ethnic group, it affects persons of Eastern European Jewish ancestry more frequently. There is no cure for Canavan disease, nor is there a standard course of treatment. Treatment is symptomatic and supportive. The prognosis for Canavan disease is poor. Death usually occurs before age 10.

49. Canavan Disease | Www.somethingjewish.co.uk
    canavan disease. canavan disease, also known as spongy degeneration of the brain, was first described by Myrtelle M. Canavan in 1931.  
    http://www.somethingjewish.co.uk/articles/364_canavan_disease.htm
    
    Extractions: Home Page About Us Buy Jewish and Israeli gifts Suzie Gold ... You Are Wanted Last Updated: >>More from SJ Health E-mail this to a friend Canavan Disease Canavan disease, also known as "spongy degeneration of the brain," was first described by Myrtelle M. Canavan in 1931. This disease is characterized by the progressive loss of white matter, the regions of the brain through which nerve impulses are sent to other parts of the brain or to the spinal cord. Loss of white matter gives the brain a spongy, degenerative appearance. Affected infants appear normal after birth. Later they are found to be hypotonic (floppy), fail to achieve head control, and become developmentally delayed by five to eight months of life. Characteristic features include an enlarged head, mental retardation, seizures and feeding difficulties. The severity and life expectancy of children with Canavan disease vary. Some die in the first year of life, while others survive beyond their teens. As no proven treatment is currently available for the underlying cause of Canavan disease, supportive care is essential. For example, insertion of a gastrostomy tube through an incision in the stomach may help maintain good nutrition and minimize the risk of aspiration (inhalation of food or liquids into the lungs). Medications to control seizures or other manifestations of Canavan disease are also important to consider.

50. Education & Research Foundation | Research Programs | Research Training Fellowsh
    AAN Foundation Clinical Research Training Fellowship (.pdf). canavan disease Clinical Research Training Fellowship (.pdf). Mentored  
    http://www.neurofoundation.org/research/research.cfm
    
    Extractions: Home Research Programs Clinical Research Training Fellowships Applications for 2005 Fellowships Due October 1, 2004 AAN Foundation Clinical Research Training Fellowship (.pdf) Raymond D. Adams Clinical Research Training Fellowship in Neurogenetics (.pdf) Mentored grants awarded to advance the general strategy of the AAN to increase the pool of clinical investigators and advance clinical research in neurology. Specific characteristics of these grants include: Eligibility: Open to neurologists (MD, DO, MD/PhD) within five years of the completion of residency or post-doctoral training. Need not be a US citizen. Subject: AAN Foundation CRTFs restricted to clinical research that falls within the definition established by the American Academy of Neurology.* Raymond D. Adams award is restricted to research in neurogenetics. Mentor: Proposals must clearly describe the applicant mentor, institutional support, and a training program designed to address the unique needs of each candidate. Evaluation: Grantees are chosen from a ranked pool of applications. Proposal evaluations are generally weighted toward the research plan and the mentoring environment. Award: $50,000 per year for two years plus a tuition reimbursement stipend of $7,000 per year.

51. Canavan Disease - Encyclopedia Article About Canavan Disease. Free Access, No Re
    encyclopedia article about canavan disease. canavan disease in Free online English dictionary, thesaurus and encyclopedia. canavan disease.  
    http://encyclopedia.thefreedictionary.com/Canavan disease
    
    Extractions: Dictionaries: General Computing Medical Legal Encyclopedia Word: Word Starts with Ends with Definition Canavan disease is a rare, inherited, neurological disorder Neurological disorders are a group of disorders that involve the central nervous system (brain, brainstem and cerebellum), the peripheral nervous system (including cranial nerves), and the autonomic nervous system (parts of which are located in both central and peripheral nervous system). Major branches are headache, stupor and coma, dementia, seizure, sleep disorders, trauma, infections, neoplasms, neuroophthalmology, movement disorders, demyelinating diseases, spinal cord disorders, and disorders of peripheral nerves, muscle and neuromuscular junctions. Click the link for more information. characterized by spongy degeneration of the brain For other articles about other subjects named brain see brain (disambiguation). In the anatomy of animals, the brain , or encephalon , is the supervisory center of the nervous system. Although the brain is usually cited as the supervisory center of vertebrate nervous systems, the same term can also be used for the invertebrate central nervous system.

52. Chicago Center For Jewish Genetics Disorders - Ashkenazi Disorders: Canavan Dise
    Ashkenazi Disorders Mendelian. canavan disease. canavan disease is caused by a deficiency of an enzyme called aspartoacylase (ASA).  
    http://www.jewishgeneticscenter.org/what/ashkenazi/canavan.asp
    
    Extractions: Canavan Disease Canavan disease is caused by a deficiency of an enzyme called aspartoacylase (ASA). Most children with this disorder appear normal at birth, but lack of this enzyme affects the brain and results in progressive deterioration of the affected child. The disease is life shortening with death typically occurring in the first or second decade of life. No effective treatment is available for this condition at this time. Read a true story about a child with Canavan Disease: Chicago Family Leads Fight Against Canavan Disease By Lisa Lewis, JUF News Disease frequency: 1 in 5,000 in the Jewish population Carrier frequency: 1 in 38 in the Jewish population. Diagnosis: Made by detecting lack of enzyme aspartoacylase in skin cells or by genetic testing of the gene for Canavan disease in blood. Inheritance: Autosomal Recessive Carrier testing: Available through genetic testing of the Canavan gene. Testing can identify about 97% of Ashkenazi Jewish carriers. Prenatal diagnosis: Genetic testing of the Canavan disease gene. This testing is available to those with a previous affected child or to couples found to be at risk by carrier testing.

53. Chicago Center For Jewish Genetics Disorders - Ashkenazi Disorders: Canavan Dise
    canavan disease. Gene The gene responsible for canavan disease is the aspartoacyclase (ASA) gene, which is located at 17pterp13.  
    http://www.jewishgeneticscenter.org/what/ashkenazi/canavan2.asp
    
    Extractions: Canavan Disease Gene: The gene responsible for Canavan disease is the aspartoacyclase (ASA) gene, which is located at 17pter-p13. Aspartoacyclase hydrolyzes N-acetylaspartic acid (NAA) into aspartic acid and acetate. Its absence in the central nervous system leads to the accumulation of NAA in the brain resulting in demyelination and other symptoms seen in Canavan disease. Mutations and testing: Three common mutations in the ASA gene have been identified: E285A, Y231X, and A305E. Testing for these three mutations leads to a detection rate of ~99% in Ashkenazi Jews for disease-causing alleles and ~50-55% in non-Ashkenazi Jews. Traits: Canavan disease is a severe neurodegenerative disease (progressive leukodystrophy) with clinical onset usually by 3 to 6 months. Common features are hypotonia, poor head control, hyperextension of legs and flexion of arms, gastrointestinal reflux, feeding difficulties, severe mental deficiency, developmental delay, and macrocephaly. Over time, an affected child will develop spasticity, seizures, optic atrophy, and blindness. Death usually occurs within the first decade of life. Treatment: There is no effective treatment for Canavan disease. Supportive care is aimed at providing the affected child with comfort.

54. Jewish Genetic Diseases Program - What Is A Jewish Genetic Disease
    canavan disease. canavan disease is a progressive neurological disorder with symptoms beginning in infancy. canavan disease is caused by an enzyme deficiency.  
    http://www.sbhcs.com/genetics/offer/can.html
    
    Extractions: Canavan Disease CANAVAN DISEASE is a progressive neurological disorder with symptoms beginning in infancy. The condition is typically fatal within the first decade although some people survive into their teens or early twenties. There is no cure at the present time. Symptoms include generalized weakness, severe mental retardation, and enlarged head size. About 1 in 40 Ashkenazi Jews are carriers. Canavan disease is caused by an enzyme deficiency. Enzyme measurement is not reliable for carrier testing. DNA mutation analysis detects about 97% of Ashkenazi Jewish carriers. Resources: The Canavan Foundation

55. Canavan Disease
    Click this page. canavan disease is a severe degenerative disease of the central nervous system. Most children with canavan disease appear normal at birth.  
    http://www.einstein.edu/e3front.dll?durki=7166

56. ► Canavan Disease
    canavan disease. canavan disease is an inherited disorder of aspartic acidmetabolism that is characterized by degeneration of the white matter of the brain.  
    http://www.umm.edu/ency/article/001586.htm
    
    Extractions: Causes, incidence, and risk factors: Canavan disease is inherited as an autosomal recessive trait and has a higher incidence among Ashkenazi Jews than the general population. A deficient enzyme , aspartoacylase, results in the accumulation of N-acetylaspartic acid in the brain and subsequent degeneration of the white matter. Typical cases have onset of symptoms in the first year of life with loss of developmental milestones and death before 18 months of age.

57. BrainTalk Communities - Neurology Support Groups
    RESEARCHERS USE GENE THERAPY IN MOUSE MODELS OF canavan disease TO STOP BRAIN DEGENER, SS, 1, 0506-2003 0537 PM. test, AMY M, 2, 12-06-2002 1152 AM.  
    http://neuro-mancer.mgh.harvard.edu/cgi-bin/forumdisplay.cgi?action=topics&forum

58. PRESS RELEASE/GENE THERAPY FOR CANAVAN DISEASE - BrainTalk Communities - Neurolo
    Author, Topic PRESS RELEASE/GENE THERAPY FOR canavan disease. Canavan Mom Member Posts canavan disease by Ruth Gesmer Silverman Ilyce  
    http://neuro-mancer.mgh.harvard.edu/ubb/Forum47/HTML/000032.html
    
    Extractions: Please read the FAQ page for our Terms of Service and answers to common technical questions. Please visit the Useful Websites page for websites relevant to this specific forum. You can add your own, too! By accessing this website, you acknowledge and agree to the terms of our Medical Dictionary PubMed Drug Information Chats ... Registered: Mar 2001 posted 04-24-2001 11:46 AM Canavan Disease by Ruth Gesmer Silverman Ilyce Randell says she still hasn't caught her breath after reading the email that could spell the difference between life and death and, she says, "buy some time" for her 31/2 year-old son Max. "My heart's still pounding, I'm so excited," the 34-year-old Palatine, IL woman said Sunday. She and her husband Mike, 38, learned on April 19 that their year of round-the-clock efforts to convince the FDA to release an experimental gene transplant from clinical hold (originally imposed due to concerns about an unrelated transplant that resulted in the death of the recipient, who suffered from liver disease) have finally come to fruition. Max suffers from Canavan Disease, a genetic disorder, in which the brain turns spongy, leading to progressive, profound disability and death. It can occur in any ethnic group, however it is most prevalent in people of Eastern-European (Ashkenazi) descent.

59. BrainTalk Communities - Canavan Disease
    Post New Thread. Threads in Forum canavan disease, Forum Tools, Search this Forum. Views 3,655 Announcement Donations to BrainTalk  
    http://brain.hastypastry.net/forums/forumdisplay.php?f=102

60. Canavan Disease
    canavan disease. What is canavan disease? Is there any treatment? There is no cure for canavan disease, nor is there a standard course of treatment.  
    http://www.clevelandclinic.org/health/health-info/docs/1200/1259.asp?index=6013

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