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The Fertility Show

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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Existing drugs could benefit one in five breast cancer patients

20 March 2017 - by Dr Molly Godfrey

A genetic study of breast cancer patients suggests that existing drugs for treating rare breast and ovarian cancers may help more patients than previously thought... [Read More]

HFEA grants first UK licence to carry out mitochondrial donation

20 March 2017 - by Georgia Everett

Doctors at Newcastle Fertility Centre have been granted the first UK licence to use mitochondrial replacement therapy as a fertility treatment to prevent the inheritance of mitochondrial disease... [Read More]

18 new genes linked to autism

13 March 2017 - by Jenny Sharpe

A study that sequenced the whole genomes of over 5000 people has discovered 18 genes associated with autism spectrum disorder (ASD)... [Read More]

First genome editing of normal human embryos

13 March 2017 - by Dr Katie Howe

Chinese scientists have successfully used genome editing to correct mutations in viable human embryos for the first time... [Read More]

The craftsmanship of mimicking embryogenesis in a dish

13 March 2017 - by Dr Dusko Ilic

The regulatory mechanisms governing organ development are, in general, poorly defined. To recreate the complex processes involved in organ growth and maturation, scientists have started fiddling with three-dimensional (3D) cell culture... [Read More]

Podcast Review: Naked Genetics – Testing, testing

06 March 2017 - by Matthew Thomas

Dr Kat Arney leads a fascinating and wide-ranging discussion of genetic testing – from testing for cancer genes to whether your child's DNA can predict their future sporting ability... [Read More]

Sickle cell reversed with gene therapy in teenager

06 March 2017 - by Ayala Ochert

A teenage boy in France appears to have been cured of sickle cell disease using a gene therapy. He has been free of all signs of the disease for 15 months... [Read More]

New genetic links to pancreatic cancer discovered

20 February 2017 - by Jamie Rickman

Researchers have used whole-genome sequencing to uncover new mutations responsible for a rare type of pancreatic cancer... [Read More]

BRCA testing not offered to enough high-risk patients

13 February 2017 - by Hannah Somers

A study has indicated that US doctors may not be recommending genetic testing to a sufficient number of high-risk breast cancer patients... [Read More]

Deaf mice able to hear 'whispers' after gene therapy

13 February 2017 - by Jamie Rickman

An improved gene-therapy technique using a synthetic virus has restored the hearing of deaf mice up to the level of a whisper... [Read More]

Genetic study identifies new type of muscular dystrophy

13 February 2017 - by Caroline Casey

Scientists have identified a unique form of congenital muscular dystrophy, characterised by short stature, intellectual disabilities and cataracts... [Read More]

Genetic test predicts success of bone-marrow transplant

13 February 2017 - by Emma Laycock

A new blood test can predict how well patients with myelodysplastic syndrome will respond to bone-marrow transplants... [Read More]

Over 600,000 at risk of sudden death from faulty heart gene

06 February 2017 - by Julianna Photopoulos

About 620,000 people in the UK carry a faulty heart gene that puts them at high risk of sudden death or developing coronary heart disease, the British Heart Foundation has warned... [Read More]

Smartphone DNA sequencer developed

23 January 2017 - by Kulraj Singh Bhangra

Scientists have created a smartphone microscope attachment that can image and analyse DNA sequences... [Read More]

Discussion of ethics of new IVG technique is needed, say US experts

16 January 2017 - by Annabel Slater

Three US experts say public conversation should begin now on the ethical challenges raised by a new fertility technology that could reprogram any human cell into eggs and sperm... [Read More]

Genetic fingerprint identifies aggressive prostate cancer

16 January 2017 - by Annabel Slater

Canadian scientists have identified a genetic fingerprint that indicates which prostate cancer tumours may develop into a more aggressive form of the disease after treatment... [Read More]

Podcast Review: Big Unknowns – can we stop ageing?

16 January 2017 - by Matthew Thomas

Is ageing inevitable, or can it be stopped? The Guardian Science Weekly podcast explored the latest thinking in the science of ageing... [Read More]

Gene therapy 'reverses ageing' in mice

19 December 2016 - by Sarah Gregory

Gene therapy can reverse the effects of ageing in mice, researchers claim... [Read More]

More women get tested for breast cancer genes thanks to 'Angelina Jolie effect'

19 December 2016 - by Anastassia Bolotkova

Angelina Jolie's 2013 public announcement that she has the BRCA1</i> breast cancer gene led to a 64 percent increase in women seeking genetic testing for breast cancer... [Read More]

Tumour gene tests produce conflicting results

19 December 2016 - by Isobel Steer

A study has cast doubts on the reliability of 'liquid biopsies' – blood tests that detect tumour mutations and are increasingly used to guide treatment... [Read More]

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Events using this Glossary Item

Testing, Testing 1, 2, 3: PGS and PGD
13 September 2016 6pm (registration), 6.30pm-8.30pm (discussion) Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH
The Progress Educational Trust's FREE-to-attend event about testing and screening human embryos is taking place TOMORROW EVENING - book NOW. The event will be chaired by Dr Sue Avery, with speakers including Dr Tony Gordon, Dr Christine Patch, James Lawford Davies and Professor Michael Parker...
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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