Medical research

Genetic cause of congenital malformation discovered

Spontaneous mutations of a single gene are likely to cause serious developmental disorders of the excretory organs and genitalia. This is shown in an international study led by the University of Bonn and published in the ...

Genetics

Novel approach reduces SCA1 symptoms in animal model

Research has shown that a mutation in the ATAXIN-1 gene leads to accumulation of Ataxin-1 (ATXN1) protein in brain cells and is the root cause of a rare genetic neurodegenerative disease known as spinocerebellar ataxia type ...

Oncology & Cancer

HPV strains may impact cervical cancer prognosis

An analysis of cervical cancers in Ugandan women has uncovered significant genomic differences between tumors caused by different strains of human papillomavirus (HPV), signifying HPV type may impact cervical cancer characteristics ...

Genetics

Gene therapy targets inner retina to combat blindness

Gene therapy to the inner retina prevented blindness in a mouse model of the neuro-degenerative disorder CLN3 Batten disease. Adeno-associated viral (AAV)-mediated expression of the human CLN3 gene led to significant survival ...

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