Sentences with word «gangliosidosis»

An example is that prior to the availability of genetic testing for carriers of GM1 gangliosidosis in Portuguese water dogs, 20 % of PWDs were carriers.

Strategies for creating a cure for GM1 gangliosidosis in cats will soon enter human clinical trials at the National Institutes of Health.

GM1 and GM2 gangliosidosis occur when cats lack particular enzymes that are necessary for proper functioning of the nervous system.

Dr. Landing gave the first definitive description of Gangliosidosis - 1 (GM - 1) in 1964, which had variously been called «Hurler variant,» «pseudo-Hurler disease,» and «Tay - Sachs with visceral involvement.»

Through the collaboration, Lysogene, UMMS and AU will develop IND - supporting preclinical studies in GM1 - gangliosidosis using AAV gene therapy technology.

More information on our GM1 gangliosidosis program.

GM1 gangliosidosis affects 1 in 100,000 - 200,000 newborns and is inherited in an autosomal recessive pattern.

Some lines have indicated problems with gangliosidosis, a condition caused by an enzyme deficiency.

His research focuses on the molecular therapy of neurodegenerative diseases, specifically the therapeutic strategies for the neuropathic lysosomal storage diseases known as GM1 and GM2 Gangliosidosis in cats.

Called GM - 1 gangliosidosis in Portuguese water dogs.

DNA tests are available to detect both carrier and affected cats with both forms of gangliosidosis.

The most advanced program related to the platform targets GM1 Gangliosidosis and Morquio B.

Lysogene develops IND - supporting preclinical studies and plans its phase I / II clinical trial of gene therapy in GM1 gangliosidosis... Read More

Lysogene's GM1 program includes the development of an AAV based treatment for GM1 gangliosidosis.

The collaboration will combine Lysogene's outstanding translational and clinical expertise in gene therapy for CNS disorders with the unique preclinical expertise and infrastructure of UMMS and AU to design and test innovative AAV - based gene therapy approaches to treat GM1 - gangliosidosis.

GM 1 gangliosidosis must be inherited from parents who are carriers of the disease.

Anyone can be a carrier of GM1 gangliosidosis and not have any symptoms.

Gangliosidosis - 1 (GM - 1) is a progressive neurological genetic disorder caused by the absence of a vital enzyme.

GM1 gangliosidosis, or Landing disease, is a rare inherited neurodegenerative lysosomal storage disorder characterized by severe cognitive and motor developmental delays resulting in the death of most patients at a very young age.

Gangliosidosis - 1 GM1 disease is caused by the absence or significantly reduced level of a vital enzyme called beta - galactosidase (GLB1).

GM1 gangliosidosis can be classified into three major clinical phenotypes according to the age of onset and severity of symptoms: Type I (infantile), Type II (late infantile / juvenile) and Type III (adult).

Lysogene organised the first - ever scientific workshop focused solely on GM - 1 gangliosidosis (GM1) research for families and others with an interest in the disorder.

Today we have two programs in our pipeline for mucopolysaccharidosis Type IIIA (MPS IIIA) and GM1 gangliosidosis (GM1).

Gangliosidosis is an inherited inborn error of lipid metabolism, also known as a «lysosomal storage disease».

Both GM1 and GM2 gangliosidosis are inherited in a simple autosomal recessive manner.

The cause of GM1 gangliosidosis has been identified as a defect in the GLB1 gene, while GM2 gangliosidosis is caused by defects in the HEXB gene.

Lysosomal storage diseases such as Niemann - Pick disease, mucopolysaccharidosis and gangliosidosis (GM1) have been described in Siamese cats, as has systemic amyloidosis.