Tay Sachs Disease News and Research

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Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring in children, that results in progressive destruction of the nervous system. Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A). Without Hex-A, a fatty substance, or lipid, called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation causes progressive damage to the cells.
New CRISPR genome “prime editing” system

New CRISPR genome “prime editing” system

$28 million grant supports Cincinnati Children's role as coordinating center for Rare Diseases Clinical Research Network

$28 million grant supports Cincinnati Children's role as coordinating center for Rare Diseases Clinical Research Network

New blood test detects genetic disorders in fetuses

New blood test detects genetic disorders in fetuses

Gene therapy is the best stratagem to impact the course of GM2 gangliosidosis

Gene therapy is the best stratagem to impact the course of GM2 gangliosidosis

Actress Kiruna Stamell argues about gene editing with Dr Christopher Gyngell

Actress Kiruna Stamell argues about gene editing with Dr Christopher Gyngell

New gene therapy shows promising results for treating neurodegenerative disorders

New gene therapy shows promising results for treating neurodegenerative disorders

Mutation that increases sphingolipid levels can lead to neurodegeneration

Mutation that increases sphingolipid levels can lead to neurodegeneration

Researchers find genetic mutation that causes glycogen storage disease type IIIa in Inuit

Researchers find genetic mutation that causes glycogen storage disease type IIIa in Inuit

Genetic basis of hereditary disease causes severe brain atrophy in Jews of Moroccan ancestry

Genetic basis of hereditary disease causes severe brain atrophy in Jews of Moroccan ancestry

LUHS offers highly accurate prenatal test to determine chromosomal abnormalities in fetus

LUHS offers highly accurate prenatal test to determine chromosomal abnormalities in fetus

Available drugs may have a dramatic impact on children stricken with Tay-Sachs disease

Available drugs may have a dramatic impact on children stricken with Tay-Sachs disease

Counsyl, ARUP partner to expand pregnancy genetic test offering for prospective parents

Counsyl, ARUP partner to expand pregnancy genetic test offering for prospective parents

Statistical method uses evolutionary information to enhance identification of disease-associated alleles

Statistical method uses evolutionary information to enhance identification of disease-associated alleles

New genetic testing technology for IVG embryos

New genetic testing technology for IVG embryos

Neurology professor receives MFRF's 'See the Light' award for Tay-Sachs research

Neurology professor receives MFRF's 'See the Light' award for Tay-Sachs research

New stem cell gene, enzyme replacement treatment for Tay-Sachs disease

New stem cell gene, enzyme replacement treatment for Tay-Sachs disease

Quest Diagnostics' Fragile X Syndrome test receives New York State health department approval

Quest Diagnostics' Fragile X Syndrome test receives New York State health department approval

Creator of California Tay-Sachs Disease Prevention Program among the honorees

Creator of California Tay-Sachs Disease Prevention Program among the honorees

Gene patenting policies affect patient access to testing for disease-causing genes: Study

Gene patenting policies affect patient access to testing for disease-causing genes: Study

Pathway Genomics' personal Genetic Health Report now available

Pathway Genomics' personal Genetic Health Report now available