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Major genetic study confirms that many genes contribute to risk for Tourette’s syndrome

March 5, 2019 dna 0
A meta-analysis of multiple studies into the genetic background of Tourette’s syndrome (TS) — a neurodevelopmental disorder characterized by chronic involuntary motor and vocal tics — finds that variants in hundreds of genes, working in combination, contribute to the development of the syndrome and suggests that Tourette’s is part of a continuous spectrum of tic disorders, ranging from mild, sometimes transient tics to severe cases that can include psychiatric symptoms.
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Discovery of the genetic ‘conductor’ of brain stem cells

March 5, 2019 dna 0
Our brain comprises 85 billion nerve cells and just as many so-called glial cells. But what decides when and how many of them become neurons or glial cells? A new study has shown how the Foxg1 gene plays a fundamental role in piloting the differentiation of stem cells, guaranteeing that neurons and glial cells are produced in the right quantity and at the right moment. The research opens new roads to understanding and treating incurable genetic diseases.
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Australians’ views on personal genomic testing: focus group findings from the Genioz study.

March 5, 2019 dna 0
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Australians’ views on personal genomic testing: focus group findings from the Genioz study.

Eur J Hum Genet. 2018 08;26(8):1101-1112

Authors: Metcalfe SA, Hickerton C, Savard J, Terrill B, Turbitt E, Gaff C, Gray K, Middleton A, Wilson B, Newson AJ

Abstract
Personal genomic testing provides healthy individuals with access to information about their genetic makeup for purposes including ancestry, paternity, sporting ability and health. Such tests are available commercially and globally, with accessibility expected to continue to grow, including in Australia; yet little is known of the views/expectations of Australians. Focus groups were conducted within a multi-stage, cross-disciplinary project (Genioz) to explore this. In mid-2015, 56 members of the public participated in seven focus groups, allocated into three age groups: 18-24, 25-49, and ≥50 years. Three researchers coded transcripts independently and generated themes. Awareness of personal genomic testing was low, but most could deduce what “personal genomics” might entail. Very few had heard of the term “direct-to-consumer” testing, which has implications for organisations developing information to support individuals in their decision-making. Participants’ understanding of genetics was varied and drawn from several sources. There were diverse perceptions of the relative influence of genetics and environment on health, mental health, behavior, talent, or personality. Views about having a personal genomic test were mixed, with greater interest in health-related tests if they believed there was a reason for doing so. However, many expressed scepticisms about the types of tests available, and how the information might be used; concerns were also raised about privacy and the potential for discrimination. These exploratory findings inform subsequent stages of the Genioz study, thereby contributing to strategies of supporting Australians to understand and make meaningful and well-considered decisions about the benefits, harms, and implications of personal genomic tests.

PMID: 29706641 [PubMed – indexed for MEDLINE]