Genetic Disorder News and Research

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It's pure science fiction! - human embryo to be created from two mothers

It's pure science fiction! - human embryo to be created from two mothers

New lotion repairs sun damaged skin

New lotion repairs sun damaged skin

Blocking Hutchinson-Gilford progeria syndrome (HGPS) with anticancer drugs

Blocking Hutchinson-Gilford progeria syndrome (HGPS) with anticancer drugs

Drugs known as farnesyltransferase inhibitors (FTIs) may hold promise for premature aging disorder

Drugs known as farnesyltransferase inhibitors (FTIs) may hold promise for premature aging disorder

New tool to help unravel the function of an elusive DNA structure

New tool to help unravel the function of an elusive DNA structure

Molecular missing link between fasting and acute attacks of porphyria

Molecular missing link between fasting and acute attacks of porphyria

European Rare Diseases Therapeutic Initiative could provide an important new mechanism for developing new drugs

European Rare Diseases Therapeutic Initiative could provide an important new mechanism for developing new drugs

First study to test the role of RNA chemical modifications on immunity

First study to test the role of RNA chemical modifications on immunity

New technique for creating human embryonic stem cells

New technique for creating human embryonic stem cells

First proof of how the rare disorder Fanconi anemia causes chromosomal instability

First proof of how the rare disorder Fanconi anemia causes chromosomal instability

Discovery of new gene FANCM sheds light on repair of damaged DNA

Discovery of new gene FANCM sheds light on repair of damaged DNA

Protein p53 is the "guardian" of our genome

Protein p53 is the "guardian" of our genome

First evidence that complex genetic interactions account for autism risk

First evidence that complex genetic interactions account for autism risk

Scientists use gene transfer to prevent retinoschisis

Scientists use gene transfer to prevent retinoschisis

Controlling the expression of genes by turning them on or off could produce a drug for the treatment or cure of almost any disease

Controlling the expression of genes by turning them on or off could produce a drug for the treatment or cure of almost any disease

Study findings will help early detection and treatment of hyperglycemic diabetes

Study findings will help early detection and treatment of hyperglycemic diabetes

Defect in the mechanics of motors that build tiny cellular hairs is the basis of Bardet-Biedl syndrome

Defect in the mechanics of motors that build tiny cellular hairs is the basis of Bardet-Biedl syndrome

Gene that regulates normal embryonic development is found at high levels in virtually all forms of breast cancer

Gene that regulates normal embryonic development is found at high levels in virtually all forms of breast cancer

New insight into age-related macular degeneration

New insight into age-related macular degeneration

Variations in the gene for protein kinase C beta 1 (PRKCB1) strongly associated with autism

Variations in the gene for protein kinase C beta 1 (PRKCB1) strongly associated with autism

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