Extractions: Boarded in Pediatrics, Pediatric Neurology, Neonatology. Dr. Snyder is the world renowned leading researcher and co-founder of the stem cell field. His work focuses on understanding the mechanisms underlying Canavan disease and other childhood neurodegenerative diseases. Dr.Snyder's work investigates Canavan at a molecular and cellular basisparticularly as programmed into the Central Nervous System at the stem cell level. Jacob's Cure is committed to funding a two year project with Dr. Snyder that aims to study the potential treatment of stem-cells in Canavan disease. Dr.Snyder's work will focus on studying stem cells in Canavan animal models with the goal of treating afflicted Canavan children.
Canavan Disease Links to information and resources for canavan disease, a lysosomalstorage disorder. canavan disease Guide picks. This disorder http://rarediseases.about.com/cs/canavandisease/
The Scientist - Gene Therapy Targets Canavan Disease RESEARCH. Gene Therapy Targets canavan disease. Clinical trial is first to use recombinantviruses 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.
Extractions: 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. Estimated 1/5,000 in the Jewish population Carrier frequency: About 1 in 38 in Jews. 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 disease 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.
Canavan Disease Click this page. canavan disease is a severe degenerative disease of the centralnervous system. Most children with canavan disease appear normal at birth. http://www.einstein.edu/e3front.dll?durki=7166
Canavan Disease canavan disease information, national and international support groups,clinics with genetic counselors and geneticists. canavan disease. http://www.kumc.edu/gec/support/canavan.html
Genzyme Corporation - Genetics canavan disease. Currently there is no effective treatment and most childrenwith canavan disease die within the first decade of life. http://www.genzymegenetics.com/genetics/clinicalinfo/molgen/canavan.htm
Ashkenazi Jews Should Be Screened For Canavan Disease Ashkenazi Jews Should Be Screened for canavan disease By Ilene Springer Reprintedwith permission from Jewz.com Prospective Jewish parents have another disease http://www.ujafederation.org/content_display.html?articleID=9382
NINDS Canavan Disease Information Page canavan disease information sheet compiled by the National Institute of NeurologicalDisorders and Stroke (NINDS). NINDS canavan disease Information Page. http://accessible.ninds.nih.gov/health_and_medical/disorders/canavn_doc.htm
Extractions: Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Home About NINDS Disorders-you are in this section ... Find People The nation's leading supporter of biomedical research on disorders of the brain and nervous system. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us NINDS Canavan Disease Information Page 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.
Canavan Disease canavan disease. What is canavan disease? Is there any treatment? There is nocure for canavan disease, nor is there a standard course of treatment. http://www.clevelandclinic.org/health/health-info/docs/1200/1259.asp?index=6013
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
Canavan Disease, DNA Analysis (511147) canavan disease, DNA Analysis (511147). canavan disease Mutations amongJewish and nonJewish patients. Am J Hum Genet. 1994; 55(1)34-41. http://www.labcorp.com/datasets/labcorp/html/chapter/mono/mg003100.htm
Extractions: Diseases: Canavan Disease Until 1988 the diagnosis of Canavan disease required brain biopsy to show spongy degeneration of the white matter. In 1987, it was discovered that children with Canavan disease excrete increased amounts of a substance known as N-acetylaspartic acid (NAA) in their urine. Following this discovery, many diagnoses of Canavan disease were made by demonstration of increased NAA in the urine. Canavan disease is inherited in an autosomal recessive In November of 1998, the American College of Obstetricians and Gynecologists adopted a position statement recommending that Ashkenazi Jewish couples be offered carrier screening for Canavan disease. Ideally the screening should be offered prior to pregnancy, and may be offered in conjunction with carrier screening for Tay-Sachs disease. Because of the increased frequency of the disease in Ashkenazi Jews, as well as the ability to identify a majority of a carriers with a high degree of accuracy, population based screening programs for Canavan disease are being implemented in many communities.
Canavan Disease Background. canavan disease is a rare, autosomal recessive inherited,neurological disorder, classified as a leukodystrophy. The http://www.thedoctorsdoctor.com/diseases/canavan_disease.htm
Extractions: Background Canavan disease is a rare, autosomal recessive inherited, neurological disorder, classified as a leukodystrophy. The underlying genetic defect is an enzyme defect of aspartoacyclase. This enzyme normally breaks down N-acetylaspartate acid, or NAA, into the building blocks of myelin, the fatty membrane that surrounds nerves. With loss of this enzyme, the NAA builds up in the cells, impairing the normal function of the nervous system. With time, the brain has a characteristic spongy degeneration. The symptoms of Canavan disease appear in early infancy and progress rapidly. These symptoms include mental retardation, feeding difficulties, abnormal muscle tone, poor head control, and abnormally enlarged head. With time, paralysis, blindness, or hearing loss may occur. OUTLINE Epidemiology Pathogenesis Laboratory/Radiologic/Other Diagnostic Testing Gross Appearance and Clinical Variants ... Internet Links
Extractions: Dedicated to curing Canavan Disease Learn More About Our Battle Against Canavan Disease at www.canavanresearch.org What is Canavan Disease (formerly known as Canavans disease C anavan disease (formerly known as Canavans disease) is a rare, fatal neurological disorder that affects the formation of myelin, or white matter of the brain, which insulates nerve cells, much like the insulation around a wire. The childhood victims of Canavan disease (such as Max Randell featured on the left) are loving and highly social, yet they are trapped in bodies that cannot respond to signals from the brain. I n Canavan disease (as illustrated on the far right) a defective gene impairs the formation of myelin and allows the accumulation of a toxic compound. Canavan children are unable to hold up their heads, sit up, crawl, and most will never say a single word. As Canavan disease is progressive, the brain disintegrates into a spongy mass and even the most elemental signals cannot get through. Unless a cure is found, most Canavan children will die before their 10th birthday. These precious children gradually go blind, lose the ability to swallow, require feeding tubes, and can eventually fall into a vegetative state with no voluntary movement. C anavan Research Illinois ( also known as Canavan Disease Research) is a nonprofit corporation and 501(c)(3) public charity, that was born out of desperation to save all the Canavan children.
Extractions: Close Window How does a person get Canavan disease? Canavan disease is a genetic disorder that is inherited from one's parents. As a result, a child must be born with Canavan to have it. It cannot be caught like a virus. Genes, the units of inheritance How is Canavan disease inherited? One in 40 people of Ashkenazi Jewish descent carry one mutation for Canavan disease. The mutation prevents the gene from working. These individuals are known as carriers and show no symptoms of the disease. They are perfectly healthy because they have another functional gene that can make aspartocyclase. Therefore, they are normal. In order for a child to have Canavan disease, both parents must be carriers of a Canavan mutation and pass the mutation on to their child. Therefore, a person with Canavan disease has two Canavan mutations, unlike their carrier parents who have only one. This pattern of inheritance is called autosomal recessive inheritance. Autosomal recessive inheritance For a couple in which both partners are Canavan disease carriers, in every pregnancy there is a 25% chance (1 in 4) of having a child with Canavan disease (the chance that each parent will pass on their Canavan gene is 1 in 2, or 1/2, so the chance that the child will receive both genes is 1/2 x 1/2, which is 1 in 4). There is also a 50% chance (1 in 2) of having a child who will be a healthy carrier like his/her parents. And there is a 25% chance of having a child who does not carry the Canavan gene at all.
Extractions: Fri Nov 24 21:19:03 2000 Previous message: [Pharm-policy] Gardian report: the race to buy life Next message: [Pharm-policy] Canavan article: Gen Patenting run amok? Messages sorted by: [ date ] [ thread ] [ subject ] [ author ] ... http://www.cptech.org Consumer Project on Technology, P.O. Box 19367, Washington, DC 200036 voice 1.202.387.8030 fax 220.127.116.1176 Previous message: [Pharm-policy] Gardian report: the race to buy life Next message: [Pharm-policy] Canavan article: Gen Patenting run amok? Messages sorted by: [ date ] [ thread ] [ subject ] [ author ]
[Ip-health] Law Suit Over Canavan Disease Gene Patents Iphealth Law suit over canavan disease gene patents. The case involves Canavandisease, a rare disorder that afflicts children of Ashkenazi Jewish families. http://lists.essential.org/pipermail/ip-health/2000-November/000638.html
Extractions: Fri, 24 Nov 2000 22:32:37 -0500 Previous message: [Ip-health] Gardian report: the race to buy life Next message: [Ip-health] Canavan article: Gen Patenting run amok? Messages sorted by: [ date ] [ thread ] [ subject ] [ author ] ... http://www.cptech.org Consumer Project on Technology, P.O. Box 19367, Washington, DC 200036 voice 1.202.387.8030 fax 18.104.22.16876 Previous message: [Ip-health] Gardian report: the race to buy life Next message: [Ip-health] Canavan article: Gen Patenting run amok? Messages sorted by: [ date ] [ thread ] [ subject ] [ author ]