Autosomal News and Research

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Somatic mutation acts as natural gene therapy in patients with GATA2 deficiency

Researchers affiliated with the Center for Cell-Based Therapy (CTC) in Ribeirão Preto, Brazil, have identified for the first time a non-hereditary mutation in blood cells from a patient with GATA2 deficiency, a rare autosomal disease caused by inherited mutations in the gene that encodes GATA-binding protein 2 (GATA2).

18 Nov 2020

UroCAD assay shows better sensitivity than urine cytology in detecting bladder cancer

Analysis of DNA copy number variants (CNVs) in the cells exfoliated in urine showed better sensitivity and similar specificity in detecting urothelial carcinoma compared with urine cytology.

12 Oct 2020

A new method to fish out Y chromosome molecules from microbial DNA

In 1997, the very first Neanderthal DNA sequence - just a small part of the mitochondrial genome - was determined from an individual discovered in the Neander Valley, Germany, in 1856.

25 Sep 2020

Researchers reconstruct the birth of a male sex chromosome in Atlantic herring

The evolution of sex chromosomes is of crucial importance in biology as it stabilises the mechanism underlying sex determination and usually results in an equal sex ratio.

10 Sep 2020

Discovery Shows Promise For Treating Huntington's Disease

Huntington disease is a progressive debilitating brain disorder that causes uncontrolled movements, psychological problems, and loss of cognition.

6 Aug 2020

Study could bolster understanding and treatment for rare, genetic eye disease

Nagano prefecture is home to a group of people effected with a rare genetic neurodegenerative disorder called familial amyloid polyneuropathies. This disease impacts the gene encoding protein transthyretin which is produced in the liver and also eyes.

6 Apr 2020