is rare, but it's significantly more common among people of Ashkenazi Jewish descent, like the Landsmans.
Radiological clue to diagnosis of Canavan disease
. Indian J Pediatr 2013; 80: 75-7.
The report provides comprehensive information on the therapeutics under development for Canavan Disease
, complete with analysis by stage of development, drug target, mechanism of action (MoA), route of administration (RoA) and molecule type.
They proposed a meaningful genotype-phenotype correlation in two patients with Canavan disease
using the pathogenicity prediction of the founded mutations.
Shi's previous CIRM-funded research on Canavan disease
collected stem cells from patients with the disease and corrected the genetic defect that is responsible for the disorder.
Gao discovered the gene mutation that causes Canavan disease
, a rare condition that can result in loss of vision and motor skills and often causes death in very young children.
(6) Various differential diagnoses that were considered included Canavan disease
, which is characterised by a combination of macroencephaly, extensive cerebral white matter changes (without frontal preponderance) and basal ganglia abnormalities.
Apparently normal at birth, babies with Canavan Disease
develop an enlarged head, mental retardation, feeding difficulties and seizures.
, like Tay-Sachs, is an autosomal recessive enzyme deficiency with resultant brain dysfunction and death by age 4 if untreated.
At 6 months, Jacob was diagnosed with Canavan disease
, a rare and fatal genetic brain disorder that interferes with the natural production of myelin, the white matter in the brain responsible for transmitting nerve impulses from one part of the body to another.
A PATIENT GAVE BIRTH to a child who had Canavan disease
, a neurologic disorder characterized by spongy degeneration of the central nervous system, with death often occurring by 4 years.
He has Canavan disease
, a rare neurodegenerative disorder that has gradually depleted the myelin, or electrical insulation, in his brain and confined him to a wheelchair.
While this is perhaps an extreme example (and the validity of GTG's patents has not yet been tested in the courts), other controversial cases can also be cited (e.g., the Myriad Genetics BRCA1 patent, the University of Miami Canavan disease
patent, the CCR5 HIV co-receptor gene patent).
In 1998, the American College of Medical Genetics (ACMG) recommended adding Canavan disease
(CD) testing by DNA analysis to TSD screening for AJ individuals.
Nanogen offers Analyte Specific Reagents and related products to research laboratories and clinical reference labs for the detection of genetic mutations associated with a variety of diseases, including cystic fibrosis, Alzheimer's disease, hereditary hemochromatosis, cardiovascular disease, beta thalassemia and Canavan disease
. The unique, open-architecture design of its NanoChip System provides laboratories with a flexible platform to develop and validate tests to quickly, accurately, and cost effectively detect mutations associated with the diagnoses, prediction, screening, treatment and monitoring of diseases.