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Human Clinical Embryology and Assisted Conception MSc

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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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]

CRISPR upgrade promises single-letter gene editing

25 April 2016 - by Dr Özge Özkaya

Scientists have fine tuned the genome-editing tool CRISPR so that it can now edit a single 'letter' of DNA... [Read More]

Mitochondrial mutations could hamper stem cell therapies

25 April 2016 - by Dr Julia Hill

A study has found that stem cells from older people accumulate high numbers of mitochondrial DNA mutations, which could limit their therapeutic value... [Read More]

Individuals identified who appear 'resistant' to genetic disease

18 April 2016 - by Elie Diner

Scientists searching through nearly 600,000 genome sequences have found 13 'superhumans' who are symptom-free despite carrying mutations for severe childhood diseases... [Read More]

CRISPR can't cut it against HIV

11 April 2016 - by James Brooks

Scientists testing whether the CRISPR genome-editing technique could effectively kill HIV in infected cells have found that, while the approach works in most cases, it can also cement the virus's presence... [Read More]

Gene therapy given green light in Europe

11 April 2016 - by Rebecca Carr

A gene therapy for children with a rare but life-threatening genetic disorder that severely weakens the immune system has been recommended for approval by the European Medicines Agency... [Read More]

Second Chinese team create genetically modified human embryos

11 April 2016 - by Ayala Ochert

A second team in China report that they have created genetically modified human embryos, in an attempt to make them resistant to HIV, using the genome-editing technique CRISPR/Cas9... [Read More]

Genetic test for child cancer patients

04 April 2016 - by Dr James Heather

Hospitals around the UK are going to start examining the DNA of tumour cells from paediatric cancer patients in a pilot study starting later this year... [Read More]

Vegetarian populations carry metabolic mutation

04 April 2016 - by Anastassia Kargina

Researchers have found a genetic variant in populations that have favoured vegetarian diets over many generations... [Read More]

Single gene cause of schizophrenia identified

21 March 2016 - by Sarah Gregory

A rare mutation in a single gene increases the risk of schizophrenia by 35 times, a new study has found... [Read More]

Blood test gives early warning of skin cancer relapse

14 March 2016 - by Dr Lucy Freem

Scientists have developed a blood test that captures tumour DNA from stray cancer cells circulating in the blood and allows them to monitor genetic changes in skin cancer... [Read More]

Genetics company launches huge open-access database

14 March 2016 - by Isobel Steer

Genetic-testing company Ambry Genetics has launched a huge database of cancer-patient genetics, freely available to the public... [Read More]

Rare mutation turns 'good' cholesterol bad

14 March 2016 - by Sophie Perry

A rare genetic mutation that causes high levels of 'good' cholesterol also appears to block its positive effects, increasing the risk of heart disease by 80 percent... [Read More]

Video Review: TED talk - Should you be able to patent a human gene?

14 March 2016 - by Ryan Ross

Tania Simoncelli's narrates the story of the successful legal challenge against Myriad Genetics' BRCA patents, but may have missed an opportunity to consider the broader impact of gene patenting... [Read More]

Cancer genetics discovery could revolutionise treatment

07 March 2016 - by Dr Molly Godfrey

Scientists have identified a method by which all the cells in a tumour could potentially be recognised and eradicated by the patient's own immune system... [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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