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Glossary

Autosomal recessive inheritance

A pattern of inheritance in which a mutation must be present in both copies of a gene in order to cause an observable characteristic or trait, for example the gene that causes cystic fibrosis. Also known simply as dominant inheritance.



Articles using this Glossary Item

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Radio Review: Born in Bradford

20 June 2016 - by Professor Sandy Raeburn

The Born in Bradford study, which began in 2007, has recorded data prospectively from 12,000 mothers, 4000 fathers and their 14,000 children born in Bradford General Hospital... [Read More]

23andMe gets FDA green light for direct-to-consumer test for rare genetic disorder

23 February 2015 - by Alice Hazelton

Genetic testing company 23andMe has obtained approval from the US Food and Drug Administration to market a direct-to-consumer genetic test for a rare mutation.... [Read More]

Leading the way on mitochondrial donation

16 February 2015 - by Professor Frances Flinter

Over the last 30 years I have met some remarkable families, from whom I have learned about the rewards and challenges of caring for relatives with incurable genetic conditions.... [Read More]

Trial for rare 'black bone disease' wins funding

07 October 2013 - by Dr Shanya Sivakumaran

The Alkaptonuria Society, a UK charity and patient organisation for the rare disease of the same name, has won a £5million grant from the European Commission to help finance clinical trials of a treatment for the condition... [Read More]

Book Review: Risky Genes - Genetics, Breast Cancer and Jewish Identity

28 January 2013 - by Professor Sandy Raeburn

Forty years ago I began to realise that the most interesting work in medicine lay at the interface of different specialties. Researchers who straddle such boundaries gain important insights but the experience can be daunting... [Read More]

With an eye to the future - preliminary results of clinical trial in human embryonic stem cell-based therapy of macular degeneration

31 January 2012 - by Dr Dusko Ilic and Dr Emma Stephenson

Last week, Advanced Cell Technology (ACT) of Massachusetts, USA, made two important announcements regarding human embryonic stem (hES) cell-based therapies for the potential treatment of Stargardt's dystrophy and age-related macular degeneration, two devastating degenerative disease leading to blindness.... [Read More]

DNA affecting the severity of cystic fibrosis discovered

31 May 2011 - by Dr Kimberley Bryon-Dodd

Two genetic regions that might explain some differences in disease severity in cystic fibrosis (CF) patients have been identified by US and Canadian researchers. The two regions contain genes that can modify lung function... [Read More]

Cord blood used to treat infant with SCID

15 November 2010 - by Chris Chatterton

Doctors from Great Ormond Street Hospital (GOSH) have used stem cells from donated cord blood to treat a child with a rare genetic disorder.... [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]

TV Review: Dispatches - When Cousins Marry

31 August 2010 - by Professor Sandy Raeburn

Why am I criticising a campaign to reduce the incidence of severe autosomal recessive diseases? After all, I spent five years of my 40-year clinical career in medical genetics living in Oman - a Muslim country where over 50 per cent of marriages are consanguineous? Let's dig deeper!... [Read More]

UK sperm banking: How compromise and inconsistency led to a crisis

29 June 2009 - by Dr Alan Thornhill

Long before the current commercial banking crisis, the UK suffered another banking crisis - that of donor sperm shortages. The difference is that the sperm bank crisis is not global. Instead it is quintessentially British - full of principle and good intention but sadly resulting from compromise and inconsistency. Only the areas of inconsistency are consistent: the removal of anonymity, donor expenses, screening and selection guidelines and the limitations on use of individual donors. Taken s... [Read More]

Progress in free fetal DNA (ffDNA)-based prenatal tests

15 September 2008 - by Tessa Homfray

The holy grail of prenatal diagnosis has been the identification of chromosome and single gene abnormalities through maternal blood sampling. This would allow safe accurate prenatal diagnosis, requiring much lower operator skills, and automation is potentially possible, making it cost-effective. In contrast, standard prenatal screening involves ultrasound and biochemical risk... [Read More]

Newborn babies to be screened for rare metabolic disorder

19 February 2007 - by Antony Blackburn-Starza

All newborn babies in England will be offered screening for the rare metabolic disorder Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD). MCADD is an autosomal recessive genetic disorder that is caused by a lack of an enzyme that converts fat into energy, affecting blood sugar levels. The... [Read More]

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Events using this Glossary Item

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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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