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Glossary

Mutation

A change in the sequence of DNA. Mutations occurring in genes may prevent them from working properly, which might result in disease (a genetic disorder). Mutations occur naturally at a low rate, but can also be induced by radiation and some chemicals.



Articles using this Glossary Item

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Book Review: GMO Sapiens - The Life-Changing Science of Designer Babies

30 August 2016 - by Julian Hitchcock

GMO Sapiens is just the annoying grit in the machine that the genome editing debate needs, but readers deserve clearer lines between science, speculation and opinion... [Read More]

Exome project reveals 3230 disease genes

22 August 2016 - by Dr Barbara Kramarz

More than 3230 genes with the propensity to cause disease have been identified in an analysis of the largest exome dataset yet... [Read More]

Blurred boundaries – the language of DNA

08 August 2016 - by Professor Marcus Pembrey

The general public have appropriated the term DNA to mean much more than just the molecule itself. This may not be a problem most of the time but, in the case of donor eggs and sperm in particular, it's important that people are clear on what genetics and epigenetics really tell us... [Read More]

Gene testing in young patients may uncover 'cancer families'

08 August 2016 - by Amina Yonis

More than half of patients with sarcoma, a rare cancer, have mutations that are known to increase the risk of other types of cancer... [Read More]

Ice-bucket challenge funds ALS gene discoveries

01 August 2016 - by Jenny Sharpe

Donations from the ALS 'ice-bucket challenge' have funded research that has led to the discovery of new genes linked to the disease... [Read More]

New 'obesity gene' found in half of Samoan population

01 August 2016 - by Rachel Reeves

A newly discovered genetic variant in the Samoan population increases obesity risk by 35 percent – the largest effect of any obesity gene... [Read More]

Quick and cheap DNA tests for ovarian cancer patients 'would save lives'

18 July 2016 - by Hannah Somers

Researchers have developed a new pathway for genetically testing ovarian cancer patients which they say will save both lives and money... [Read More]

'Silent' red hair gene increases skin cancer risk

18 July 2016 - by Ayala Ochert

Having a single copy of the 'ginger gene' may increase the risk of skin cancer, even among people who don't have red hair, according to a study... [Read More]

BRCA mutations linked to prostate and uterine cancers

11 July 2016 - by Antony Blackburn-Starza

Genetic mutations on several genes including BRCA2 have been associated with prostate cancer; while in a separate study, a BRCA1 mutation has been linked to a particular form of uterine cancer... [Read More]

Osteoporosis drug touted as potential 'BRCA-blocker'

27 June 2016 - by Helen Robertson

A drug currently used to treat osteoporosis in old age may help prevent breast cancer in women with a genetic predisposition for the disease... [Read More]

Radio Review: Born in Bradford

20 June 2016 - by Professor Sandy Raeburn

The Born in Bradford study, which began in 2007, has recorded data prospectively from 12,000 mothers, 4000 fathers and their 14,000 children born in Bradford General Hospital... [Read More]

Acute myeloid leukaemia made up of 'at least 11 subtypes'

13 June 2016 - by Amina Yonis

A study on the blood cancer acute myeloid leukaemia has shown which combinations of mutations lead to the most aggressive forms of the disease and revealed a complicated picture at the genetic level... [Read More]

Mutation for rare form of multiple sclerosis could be 'genetic smoking gun'

06 June 2016 - by Dr Lucy Freem

A gene variant has been linked to early onset multiple sclerosis in a small number of cases, lending weight to the hypothesis that genetic factors underlie multiple sclerosis more widely... [Read More]

Healthy lifestyle reduces risk of common breast-cancer genes

31 May 2016 - by Amina Yonis

Researchers in the USA have found that following a healthy lifestyle can reduce the risk of developing breast cancer among certain women with a strong genetic disposition to the condition... [Read More]

Rare mutation may protect against heart disease

23 May 2016 - by Rachel Reeves

A rare genetic mutation reduces the risk of having a heart attack by one-third, a study has found... [Read More]

Five new risk genes unearthed in breast cancer DNA trawl

09 May 2016 - by Hannah Somers

What researchers claim as the largest-ever whole-genome sequencing study in breast cancer has revealed five previously unidentified genes which drive the development of the disease... [Read More]

No benefit from expanding cancer-risk gene test beyond the essentials

09 May 2016 - by Rachel Siden

Adding more genes to existing multi-gene panels that test for breast and ovarian cancer risk offers little clinical benefit, a study says... [Read More]

Gene therapy reverses inherited blindness

03 May 2016 - by Sarah Gregory

A trial of gene therapy for choroideremia, a rare form of inherited blindness, has partially restored the vision of several patients... [Read More]

Study links gene to skin ageing

03 May 2016 - by Isobel Steer

Scientists say they have identified a gene that could explain why some people appear to look younger than they are... [Read More]

BRCA1 mutation linked to reduced egg reserves

25 April 2016 - by Dr Katie Howe

Women with a mutation in the breast-cancer susceptibility gene BRCA1 may have reduced numbers of eggs left in their ovaries, according to a study led by Australian scientists... [Read More]

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Events using this Glossary Item

Risk Assessment: Breast Cancer, Prediction and Screening
08 May 2014 6.30pm-8.30pm Darwin Lecture Theatre, Darwin Building, University College London, Malet Place, London WC1E 6BT
The second FREE public event in the Progress Educational Trust's 'Breast Cancer: Chances, Choices and Genetics' series...
Relative Risk: Breast Cancer and Genetics
03 April 2014 6.30pm-8.30pm Darwin Lecture Theatre, Darwin Building, University College London, Malet Place, London WC1E 6BT
LAST CHANCE to book for this coming Thursday's FREE event launching the Progress Educational Trust's 'Breast Cancer: Chances, Choices and Genetics' project...
Mutants and What to Do About Them
09 February 2011 7.30pm Conway Hall, Red Lion Square, London WC1R 4RL, UK
The 2011 British Humanist Association/South Place Ethical Society Darwin Day Lecture, given by Armand Marie Leroi...
The Blind-Drunk Mutant Mouse: A Model for Schizophrenia?
19 November 2009 12midday Francis Crick Auditorium, Wellcome Trust Conference Centre, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1RQ, UK
A discussion introduced by Professor Kay Davies, Head of Physiology, Anatomy and Genetics at the University of Oxford...
Techniques and Applications of Molecular Biology
13 July 2009  Department of Biological Sciences, Gibbet Hill Campus, Gibbet Hill Road, University of Warwick, Coventry CV4 7AL
A course for those who wish to develop their understanding of genetic engineering techniques...


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