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Glossary

Single gene disorder

A disorder caused by a mutation in a single gene. For example, cystic fibrosis which is caused by mutations in the CTFR (cystic fibrosis transmembrane conductance regulator) gene.



Articles using this Glossary Item

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Preimplantation genetic screening: unvalidated methods discard healthy embryos

11 December 2017 - by Norbert Gleicher

A seemingly brilliant hypothesis of preimplantation genetic screening arose in the 1990s when Dr Yuri Verlinsky proposed using polar body biopsies to detect chromosomal abnormalities in embryos prior to transfer in IVF... Healthy embryos are discarded by unvalidated PGS

Genetic disorders: empowering patients and families through information

12 June 2017 - by Arti Patel

'I've got the diagnosis, now what?' is one of the first questions families ask when they contact us at Unique, the UK-based organisation for rare chromosome and genomic disorders... [Read More]

Ethics report on non-invasive prenatal testing raises questions of its own

06 March 2017 - by Nick Meade

The Nuffield Council of Bioethics' new report on non-invasive prenatal testing is unnecessarily negative and encroaches on women's reproductive choices... [Read More]

Second gene therapy wins approval in Europe

06 June 2016 - by Rachel Reeves

The European Commission has granted marketing authorisation for a gene therapy to treat children with an extremely rare, life-threatening genetic disorder... [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]

Video Review: Talking Biopolitics – A conversation with Paul Knoepfler and Nathaniel Comfort

01 February 2016 - by Dr Rebecca Dimond

An author and a science historian host an online discussion on the promise and perils of the 'science of designer babies'... [Read More]

NIH launches $280m genome-sequencing project

25 January 2016 - by Rikita Patel

The US National Institutes of Health (NIH) has pledged over US$280 million over the next four years to genome sequencing targeting common and rare human diseases... [Read More]

Genome editing and CRISPR: The science of engineering the embryo

18 January 2016 - by Dr Jess Buxton

We report from the third session of the annual conference of the Progress Educational Trust, titled 'Genome Editing and CRISPR: The Science of Engineering the Embryo', which discussed these new technologies and how they might be used in the future... [Read More]

Unbroken news: non-invasive prenatal testing

07 May 2013 - by James Brooks

I know what they say about yesterday's news and today's fish and chip paper but what I'm about to tell you is six months old and still a little way off as a headline... [Read More]

Mutation in immune response gene linked to Alzheimer's disease

19 November 2012 - by Helen Brooks

A single genetic mutation increases the risk of developing Alzheimer’s disease by threefold, say scientists from two independent research groups... [Read More]

Rapid test for genetic diseases in newborns developed

08 October 2012 - by Dr Lucy Freem

A streamlined method to find disease-causing single gene mutations has been developed to aid diagnosis of critically ill infants... [Read More]

Scientists unpick actions of faulty gene behind red meat bowel cancer risk

13 August 2012 - by Cait McDonagh

A faulty gene linked to bowel cancer interacts with dietary iron to significantly increase the risk of developing the disease, research on mice suggests... [Read More]

Whole fetal genome sequenced for the first time

11 June 2012 - by Dr Daniel Grimes

Researchers have sequenced the entire genome of an 18 and a half-week-old fetus using DNA samples from the blood of its mother and saliva samples from its father. These findings provide a proof of principle that a fetus can be examined for genetic defects using non-invasive technologies... [Read More]

Film Review: Genes and Life

20 February 2012 - by Ayesha Jadoon

With clear and concise information, the 'Genes and Life' DVD serves its purpose as an introduction to the field of genetics. However, it quickly became quite repetitive and lacked the entertainment value that would have taken it beyond merely an educational DVD... [Read More]

Book Review: Ethical and Legal Requirements for Transnational Genetic Research

26 September 2011 - by Professor Sandy Raeburn

First, here is the bad news. Readers attracted by this title are in for a stormy and depressing journey. The writing, both in choice of language and sentence construction, is turgid. The problems of 'plain English' start in the six-page introduction, reach a low point in the ethical chapter and only improve slightly in the legal section... [Read More]

Safeguarding consent and confidentiality in clinical genetic practice

26 September 2011 - by Professor Anneke Lucassen and Alison Hall

Suppose you have just had a genetic test for a condition that you suspect runs in your family. Aside from the possible implications for your own health, could – or should – your results be used to help to interpret tests done on other members of your family?... [Read More]

Book Review: Genetic Twists of Fate

19 September 2011 - by Ruth Saunders

News reports that researchers have linked a certain gene to a disease, condition or trait appear almost daily. The most recent include multiple sclerosis, ovarian cancer, schizophrenia and even intelligence... [Read More]

New genetic test may help to improve IVF success

31 May 2011 - by Dr Rosie Gilchrist

Multiple genetic tests have been performed on a single embryo for almost the first time, according to US researchers. The researchers from John Hopkins School of Medicine say their technique for making copies of an embryo's DNA can improve IVF success rates... [Read More]

TV Review: The Gene Code - The Book of Life/Unlocking the Code

09 May 2011 - by Professor Sandy Raeburn

Nearly twenty years ago, a medical school I know well was deciding whether to incorporate the university genetics department. One senior medical professor cautioned that science-focused geneticists would be well advised to stop studying fruit flies, snails and other animal species in favour of 'real genetic research' into human genetics.... [Read More]

Potential breakthrough in HIV gene therapy

07 March 2011 - by Dr Lux Fatimathas

American researchers have successfully created immune cells resistant to HIV. T cells, which are the main target of HIV, were isolated from six HIV positive patients and genetically manipulated to confer resistance. The cells were injected back into the same patients and were able to survive and multiply... [Read More]

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Published by the Progress Educational Trust

CROSSING FRONTIERS

Public Conference
London
8 December 2017

Speakers include

Professor Azim Surani

Professor Magdalena Zernicka-Goetz

Professor Robin Lovell-Badge

Sally Cheshire

Professor Guido Pennings

Katherine Littler

Professor Allan Pacey

Dr Sue Avery

Professor Richard Anderson

Dr Elizabeth Garner

Dr Andy Greenfield

Dr Anna Smajdor

Dr Henry Malter

Vivienne Parry

Dr Helen O'Neill

Dr César Palacios-González

Philippa Taylor

Fiona Fox

Sarah Norcross

Sandy Starr


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