Autosomal News and Research

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Study identifies gene mutation responsible for higher frequency of Italian CDA II

Study identifies gene mutation responsible for higher frequency of Italian CDA II

New treatment strategy for dominant forms of muscular dystrophy

New treatment strategy for dominant forms of muscular dystrophy

GSK, NPS enter agreement to evaluate ronacaleret in new indications

GSK, NPS enter agreement to evaluate ronacaleret in new indications

Targeting activity of PKD1 may be beneficial for treatment of polycystic kidney, liver disease

Targeting activity of PKD1 may be beneficial for treatment of polycystic kidney, liver disease

Oncogene Aurora A may contribute to polycystic kidney disease

Oncogene Aurora A may contribute to polycystic kidney disease

McGill research team finds distinct disease-causing mutations and saves baby girl

McGill research team finds distinct disease-causing mutations and saves baby girl

Mary Ann Liebert's peer-reviewed journal highlights latest developments in ocular gene therapy

Mary Ann Liebert's peer-reviewed journal highlights latest developments in ocular gene therapy

New genetic discovery in megalencephalic leukoencephalopathy with subcortical cysts

New genetic discovery in megalencephalic leukoencephalopathy with subcortical cysts

New discoveries on polycystin-1 can lead to novel kidney disease treatment

New discoveries on polycystin-1 can lead to novel kidney disease treatment

Exacerbate-reverse' approach can identify potential therapy for fatal childhood disease

Exacerbate-reverse' approach can identify potential therapy for fatal childhood disease

Israeli scientists identify genetic cause of hereditary spastic paraparesis

Israeli scientists identify genetic cause of hereditary spastic paraparesis

Vascular disorder of the brain most frequently misdiagnosed as multiple sclerosis

Vascular disorder of the brain most frequently misdiagnosed as multiple sclerosis

RMEI, PIM sponsor medical education monograph on HAE

RMEI, PIM sponsor medical education monograph on HAE

Synageva supports Fourth International Rare Disease Day

Synageva supports Fourth International Rare Disease Day

Intellikine, PKD Foundation to investigate novel therapies for patients with PKD

Intellikine, PKD Foundation to investigate novel therapies for patients with PKD

INF2 gene mutation is a major cause for focal segmental glomerulosclerosis

INF2 gene mutation is a major cause for focal segmental glomerulosclerosis

Researchers report gene therapy strategy that improves Beta Thalassemia in mice model

Researchers report gene therapy strategy that improves Beta Thalassemia in mice model

Low levels of microbe-killing molecules improve survival rate of people with CGD

Low levels of microbe-killing molecules improve survival rate of people with CGD

Research finds alteration in KBTBD13 protein causes nemaline myopathy

Research finds alteration in KBTBD13 protein causes nemaline myopathy

German Genetic Diagnostics Act in need of amendment

German Genetic Diagnostics Act in need of amendment

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