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The Fertility Show, Manchester Central, 24-25 March 2018



The extent to which a mutation causing a particular disorder causes clinical symptoms of that disorder. This usually refers to autosomal dominant conditions.

Articles using this Glossary Item


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]

23andMe only heightens the need for genetic counselling

02 February 2015 - by Dr Joyce Harper

Partially out of curiosity and partially as an assignment for Radio 4's PM show, I was one of the first to 'get to know me', as their company slogan goes, and have my genome analysed by 23andMe... [Read More]

Event Review: Heart Genetics - Predicting the Future?

13 May 2013 - by Simon Hazelwood-Smith

I'd not been to a Cafe Scientifique event before and was a little unsure of what to expect. The Royal Brompton coffee shop setting did at first feel strange; I'm more used to discussions in lecture theatres where there is a clear distinction between audience and speaker... [Read More]

Patients should get health risk gene information whether they want it or not, says report

25 March 2013 - by Nina Chohan

The American College of Medical Genetics and Genomics has published a report recommending that patients who have their genomes sequenced should automatically be told of incidental genetic findings.... [Read More]

Policing preimplantation genetic diagnosis: patients first please

18 February 2013 - by Professor Alan Handyside, Dr Karen Sage, Michael Summers and Dr Alan Thornhill

The Human Fertilisation and Embryology Authority recently announced plans to review the list of approved inherited conditions for which preimplantation genetic diagnosis is currently licensed to ensure that it is only available for conditions which meet the statutory requirements in the UK... [Read More]

Personalised medicine: a reality check

05 November 2012 - by Professor Donna Dickenson

The soaring promises made by personalised medicine advocates are probably loftier than in any other medical or scientific realm today. Francis Collins, former co-director of the Human Genome Project, wrote: 'We are on the leading edge of a true revolution in medicine, one that promises to transform the traditional "one size fits all" approach into a much more powerful strategy'... [Read More]

Genome sequencing method promises higher accuracy with less DNA

16 July 2012 - by Daryl Ramai

Technology that relies on less DNA to more accurately sequence people's genomes has been unveiled by a US biotech company... [Read More]

Insurance will continue to be unaffected by predictive genetic tests, says Government

02 July 2012 - by George Frodsham

People who undergo genetic testing to establish their future risk of developing a genetic condition, such as Alzheimer's or breast cancer, will continue to have the right to take out health insurance without disclosing the test results to their insurer.... [Read More]

Genetic link to sleepwalking: A dream or reality?

14 February 2011 - by Owen Clark

A new study has demonstrated a genetic link to sleepwalking, a condition that affects up to ten percent of children and 1 in 50 adults.... [Read More]

New PGD technology guidelines published for the genetic testing of IVF embryos

01 November 2010 - by MacKenna Roberts

The European Society of Human Reproduction and Embryology (ESHRE) has published an updated set of best practice guidelines for fertility clinics on the use of preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS) techniques... [Read More]

Faulty breast cancer gene increases male risk too

12 July 2010 - by MacKenna Roberts

Western men who carry a BRCA2 genetic mutation have a six to nine per cent lifetime risk of developing breast cancer, UK researchers have found... [Read More]

'Embryo destroyed' stories came from nowhere

01 February 2010 - by Dr Vivienne Raper

Newspaper stories claiming that fertility regulators in the UK have allowed embryos to be destroyed for 'minor disorders' are unrelated to decisions taken at a recent regulatory meeting. Stories last week said the Human Fertilisation and Embryology Authority (HFEA) had allowed doctors to routinely screen out more than 100 genetic disorders using PGD (preimplantation genetic diagnosis). But, according to HFEA sources, the list of genetic disorders approved for PGD... [Read More]

The case for case-by-case regulation of PGD: a response to Dr David King

26 January 2010 - by Nick Meade

The Genetic Interest Group (GIG) welcomed the UK's Human Fertilisation and Embryology Authority (HFEA)’s review of the case-by-case approach to the licensing of preimplantation genetic diagnosis (PGD) for late-onset conditions and for tissue typing of embryos to produce a 'saviour sibling'. I attended the HFEA's consultation event at which Dr David King spoke on 1 December last year and heard his presentation. Then, as in his BioNews comment

The case for case-by-case regulation of PGD

18 January 2010 - by Dr David King

On 20 January, the UK's Human Fertilisation and Embryology Authority (HFEA) will decide whether to continue the case-by-case regulation of two types of preimplantation genetic diagnosis (PGD) applications: those for late onset conditions and tissue typing of embryos to produce a 'saviour sibling'.... [Read More]

Parents should be allowed to transfer affected embryos, say ethicists

07 July 2008 - by Ailsa Stevens

BioNews reporting from ESHRE conference, Barcelona:By Ailsa Taylor: Amidst current debate about the implications of allowing couples to select embryos free from conditions with later onset, incomplete penetrance and (limited) treatment options, ethicists have recommended that parents undergoing pre-implantation genetic diagnosis (PGD) should, in certain circumstances, be allowed to... [Read More]

UK couple to test embryos for hereditary breast cancer

27 July 2007 - by Dr Jess Buxton

UK doctors have been given permission to help a couple avoid passing on hereditary breast cancer to their children, the Times newspaper has reported. Paul Serhal, of University College London, has been granted a licence by the Human Fertilisation and Embryology Authority (HFEA) to select embryos... [Read More]

Preimplantation Genetic Diagnosis and 'slippery slopes'

13 May 2007 - by Dr David King

Recent news stories about the development of preimplantation genetic diagnosis (PGD) tests for familial Alzheimer's disease and congenital fibrosis of the extraocular muscles (CFEM) have raised questions about 'slippery slopes' and the limits of PGD. Although not a disabled people's organisation, Human Genetics Alert approaches these issues from a disability... [Read More]

UK couples request breast cancer embryo test

30 April 2007 - by Dr Jess Buxton

UK doctors are applying for permission to help two couples avoid passing on hereditary breast cancer to their children. Paul Serhal, of University College London, has submitted a licence application to the Human Fertilisation and Embryology Authority (HFEA) to select embryos free from the BRCA1 gene... [Read More]

PGD for early onset Alzheimer's disease: Preventing disease...not the cure

17 April 2007 - by Dr Alan Thornhill

We are currently planning to help the first British couple have a baby free from the risk of developing early-onset Alzheimer's disease (EOAD). Preimplantation genetic diagnosis (PGD) for this disease, which affects individuals in middle age (40s and 50s) - rather than the more common Alzheimer's whose effects are suffered considerably... [Read More]

Designer babies or designer news?

15 May 2006 - by Dr Alan Thornhill

Once again the media have a new designer baby story. Sorry, but there's nothing really new here. No new ethical arguments, new techniques or disease types. Not a designer baby in sight. What is new is the decision by the Human Fertilisation and Embryology Authority (HFEA) to expand the list... [Read More]


Events using this Glossary Item

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...

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