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Preimplantation Genetic Diagnosis: The Who, the What, the Why and the How

Glossary

Carrier

A person who carries a mutation in only one copy of a gene, but where a mutation in both copies of that gene is required to cause a genetic condition. The carrier is therefore usually unaffected by the genetic condition, but can transmit the mutated gene to their children, who will be affected if they have mutations in both copies of the gene.



Articles using this Glossary Item

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Doubt over human embryo editing study

04 September 2017 - by Annabel Slater

A group of scientists have challenged the landmark study which reported the first successful editing of human embryos for a genetic disease... [Read More]

Disease-causing mutation edited out of human embryos

07 August 2017 - by Charlotte Spicer

Scientists have published their study confirming they are the first to correct a disease-causing mutation in human embryos using genome editing... [Read More]

Book Review: The Gene Machine - How Genetic Technologies Are Changing the Way We Have Kids

24 July 2017 - by Cathal Farrell

'The Gene Machine' is award-winning author Bonnie Rochman's book on pre-and post-natal genetic testing. In it she navigates through classical bioethical issues... [Read More]

Large study finds first genes linked to Tourette's syndrome

26 June 2017 - by Cara Foley

The first genes linked Tourette's syndrome have been identified in the biggest study of the disorder to date... [Read More]

Lifetime cancer risk predicted for BRCA mutation carriers

26 June 2017 - by Lea Goetz

A study of almost 10,000 women carrying BRCA mutations has revealed the best estimate yet of their risk in developing breast and ovarian cancer... [Read More]

Preeclampsia risk linked to DNA of baby, not mother

26 June 2017 - by Dr Linda Wijlaars

Preeclampsia – a dangerous rise in blood pressure in pregnant women – has been linked to a genetic variant found in the baby, instead of the mother... [Read More]

Controversial doctor to use MRT technique for over 40s fertility

19 June 2017 - by Shaoni Bhattacharya

The fertility doctor who led the team which produced the world's first baby through mitochondrial replacement therapy is now looking to use the same technique in a commercial venture... [Read More]

Promise of blood test to predict course of Huntington's disease

12 June 2017 - by Lea Goetz

Scientists have identified the first promising biomarker for Huntington's disease (HD) that could be harnessed in a simple blood test to predict disease onset and progression... [Read More]

Ancestry owns genetic information of customers and their relatives

22 May 2017 - by Jennifer Willows

Customers of Ancestry's consumer DNA tests may be unaware of what they have signed away, a US lawyer has suggested... [Read More]

Daughter wins right to sue father's doctors in confidentiality case

22 May 2017 - by Jennifer Willows

A woman whose father has Huntington’s disease has won the right to sue his doctors for negligence, for failing to tell her... [Read More]

Gene may accelerate memory loss in Alzheimer's disease

08 May 2017 - by Lone Hørlyck

A gene mutation may speed up memory loss and general cognitive decline in people who are at risk of developing Alzheimer’s disease... [Read More]

'Night owl' gene identified

10 April 2017 - by Caroline Casey

Researchers in the US have identified a gene mutation that causes a person's internal body clock to run slowly, leading to delayed sleep and difficulty in waking early... [Read More]

Method behind first successful mitochondrial replacement therapy revealed

03 April 2017 - by Helen Robertson

Details of the world's first successful use of mitochondrial replacement therapy in IVF have been published... [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]

Stress could trigger heart disease linked to mutation

28 November 2016 - by Dr Özge Özkaya

Gene variants coding for the muscle protein titin cause enlarged hearts in healthy individuals, and stress may trigger carriers to develop heart disease, according to a study... [Read More]

Therapeutic editing of the human genome – Jewish bioethical perspectives

14 November 2016 - by Dr Avi Lerner

Jewish bioethics may help to broaden the discussion of the ethical concerns that emerge from editing the human genome... [Read More]

Mitochondrial replacement therapy and the welfare of the child

17 October 2016 - by Dr Mair Crouch

The announcement of the birth of the first child conceived using mitochondrial donation was unforeseen. Nonetheless, in any country regulation should be required to protect the interests of the child... [Read More]

World's first mitochondrial donation baby born

03 October 2016 - by Dr Julia Hill

In a world first, the birth of a baby boy who was conceived using mitochondrial donation has been reported... [Read More]

The Mexican mitochondrial fiasco

28 September 2016 - by César Palacios González

Dr John Zhang's team have opened a new door in terms of reproductive possibilities, but they may very well be instrumental in closing the assisted reproductive door for many people in Mexico... [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]

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Events using this Glossary Item

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Moving the Boundaries of Human Reproduction

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London
8 December 2017

Speakers include

Professor Azim Surani

Professor Robin Lovell-Badge

Sally Cheshire

Professor Guido Pennings

Katherine Littler

Professor Richard Anderson

Dr Sue Avery

Dr Elizabeth Garner

Professor Allan Pacey

Dr Anna Smajdor

Dr Andy Greenfield

Philippa Taylor

Dr César Palacios-González

Fiona Fox

Sarah Norcross

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