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A pattern of inheritance caused by a gene that only has an effect if two copies are inherited, for example, the faulty gene involved in cystic fibrosis.

Articles using this Glossary Item


South Asian social systems give insight into genetics

24 July 2017 - by Charlotte Spicer

Genome-wide analysis in South Asian populations may provide insight into rare genetic diseases, suggests research... [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]

The making of an Olympic athlete

25 July 2016 - by Craig Pickering

Is elite performance in sport linked to genes, training, or luck?... [Read More]

Most people harbour at least one lethal mutation

20 April 2015 - by Chris Baldacci

Geneticists have estimated that each of us carries an average of one or two lethal, but recessive, genes in our DNA... [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]

Mutations identified for severe developmental disease found among Moroccan Jews

17 March 2014 - by Dr Rachel Brown

Researchers have pinpointed two genetic mutations behind a severe developmental disease seen in children of Moroccan Jewish descent... [Read More]

Why rare disease research isn't just about rare diseases

18 November 2013 - by Oliver Timmis

The idea of a rare disease informing wider knowledge about fundamentals of biology is now well established. We have shown it in alkaptonuria research, as alkaptonuria (which affects around 80 people in the UK) is an extreme form of osteoarthritis (which affects more than eight million)... [Read More]

Genetic mutation for mental retardation found in Amish community

18 March 2013 - by Antony Blackburn-Starza

A genetic mutation linked to mental retardation has been identified in an Amish community in the USA.... [Read More]

Who is afraid of more informed patients? Public fear mongering by the Swiss Academy of Medical Sciences

11 February 2013 - by Dr Barbara Prainsack and Dr Daniela Steinberger

The Swiss Academy of Medical Sciences' position paper on the 'Potential and Limits of "Individualised Medicine"' illustrates a concerning instance of public fear mongering based on factual mistakes and misinformation... [Read More]

Genetic test for ginger hair?

04 February 2013 - by Michelle Downes

A DNA test has been developed to see if couples carry the 'ginger gene'... [Read More]

Comic Review: What's Up with Lorraine? Medikidz Explain NP-C

01 October 2012 - by Ailsa Stevens

'What's up with Lorraine?' is a comic book about six superheroes - each with their own body-inspired superpowers - who live on a faraway planet called Mediland, which resembles key parts of the human body... [Read More]

'Marry out?' Some surprising consequences of genetic disease risk among Ashkenazi Jews

28 May 2012 - by Dr Jessica Mozersky

Ashkenazi Jews have historically been an endogamous population. Marrying within the group remains important to many Jews because endogamy is seen as one way to preserve Judaism and ensure the survival of future generations. In the wake of the Holocaust, and amidst a steadily decreasing Jewish population, Jewish survival has great cultural relevance... [Read More]

The genetics of ovarian performance and reserve

19 March 2012 - by Dr Lamiya Mohiyiddeen and Luciano Nardo

IVF is a complex treatment for infertility requiring costly drugs and carrying significant risk of complications. Part of the procedure aims to stimulate the ovaries to produce more eggs, and conventional methods include a combination of hormones to induce follicle growth, from which eggs are collected... [Read More]

Gene therapy beneficial but not permanent in serious immune disorder

05 March 2012 - by Ayesha Jadoon

Early trials in patients with chronic granulomatous disorder (x-CGD), a recessive X-linked condition that affects the immune system, have shown signs of success following the use of gene therapy. The observed boost in immunity of those undergoing treatment was only temporary, however, and the faulty gene causing x-CGD was not corrected permanently.... [Read More]

TV Review: Holby City - Butterflies

31 January 2012 - by Daniel Malynn

In between the epidemic of 'will they, won't they?' relationships spreading throughout Holby City, the show dealt with the genetic disorder epidermolysis bullosa (EB)... [Read More]

Book Review: Perfect People

14 November 2011 - by Dr Amy Strange

If you could design your child right down to the smallest detail, what characteristics would you pick? This is the choice that Dr and Mrs Klaesson face in Peter James' latest novel, when they visit Dr Dettore, a renegade scientist who offers couples designer babies... [Read More]

Book Review: My Beautiful Genome - Exposing Our Genetic Future One Quirk at a Time

03 October 2011 - by Emma King

My Beautiful Genome is the story of DNA told through one woman's quest to find out if the secret to her depression lies in her genes... [Read More]

Researchers discover gene linked to rare brain disorder

09 May 2011 - by Rosemary Paxman

A gene mutation thought to be responsible for the rare hereditary brain disorder Kufs disease has been identified, scientists report. The research was carried out by Dr Melanie Bahlo and her team at the Walter and Eliza Hall Institute's bioinformatics department in Parkville, Australia... [Read More]

Event Review: Mutants and What to Do About Them

21 February 2011 - by Dr Marianne Kennedy

'There's a bar at a nightclub and a girl is deciding whether to take some guy she's met home with her. She's not intent on asking does he dance well or does he have a good sense of humour… no, no, no. She takes a little bit of his hair and she runs out the door, down the street to the local genome shop… she hands over the hair with her credit card and comes back in 15 minutes. She opens up the envelope and she says, 'Wow, he's got a genetic quotient of 99'. She goes back to the bar and says ... [Read More]

New genetic screening test for rare diseases to be launched in US

21 February 2011 - by Rosemary Paxman

A new genetic test screening for almost 450 rare childhood genetic diseases could be available in the US this year, reports the Beyond Batten Disease Foundation (BBDF).... [Read More]


Events using this Glossary Item

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Published by the Progress Educational Trust


Public Conference
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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