Genes and disease

What it's like for me: androgen insensitivity syndrome

A 25-year old female shares her experiences of living with an intersex condition. Born a woman, she carries XY, not XX, sex chromosomes. 10/12/09

What it's like for me: primary ciliary dyskinesia

Rachael, a civil servant and part-time student, tells how a genetic condition called primary ciliary dyskinesia affects her life. 10/12/09

What it's like for me: Turner syndrome

Kylie tells 'Big Picture' about her life with Turner syndrome, a chromosome disorder that is thought to affect 3000 women and girls in the UK. 10/12/09

Meds behaving badly: Exploring serious drug side-effects

Many common drugs can have harmful side-effects. The Serious Adverse Events Consortium is working to understand the genetic background to these reactions. 13/10/09

Sound science: Exploring the genetics of hearing loss

Progressive hearing loss is a common and debilitating problem in humans, yet relatively little is known about the hundreds of genes thought to be involved. Professor Karen Steel's work work with mice is shedding light on the complex process of hearing. 14/04/09

Gut reaction: Investigating coeliac disease

Professor David van Heel is at the cutting edge of research into coeliac disease, a common and debilitating condition with no cure. We spoke to him and other leading figures in the field to find out what is known about the causes and treatment of this disease. 07/04/09

New genetic variants involved in common diseases

The Wellcome Trust Case Control Consortium publishes its findings on the genetic basis of a number of key diseases. 02/08/07

Trouble in the powerhouse

Mitochondria and human disease. 01/08/07

Fear factor: The genetics of anxiety

Exploring the genetics of anxiety. 20/04/07

Study guide: genetic studies help link genes to disease

How different types of genetic study help link genes to human disease. 20/12/06

Dissecting diabetes: The genetic basis of a complex disease

Many people with diabetes face a lifetime of insulin injections. But Andrew Hattersley's team in Exeter has found that some people with a purely genetic form of diabetes can take tablets instead, transforming their lives. 15/09/05

Diabetes susceptibility genes, part 1: The search for genes

Diabetes is a complex disease, and the search for genes is not straightforward, as Fernando Gibson and Philippe Froguel discuss. 21/04/05

Diabetes susceptibility genes, part 2: Candidate genes

Fernando Gibson and Philippe Froguel discuss studies of 'candidate genes' that may underlie diabetes. 21/04/05

Diabetes susceptibility genes, part 3: Genome-wide searches for type 1 genes

Fernando Gibson and Philippe Froguel examine genome-wide searches for type 1 diabetes susceptibility genes. 21/04/05

Diabetes susceptibility genes, part 4: Genome-wide searches for type 2 genes

Fernando Gibson and Philippe Froguel turn their attention to genome-wide searches for type 2 diabetes genes. 21/04/05

Diabetes susceptibility genes, part 5: Animal models of diabetes

Fernando Gibson and Philippe Froguel conclude their five-part series on diabetes genes with a look at animal models of the disease. 21/04/05

Left-right heart: Genes that control the asymmetry of the heart

Shoumo Bhattacharya is investigating the genes that control heart development and underlie congenital heart defects. 22/02/05

Sound research: The genetics of deafness

Karen Steel is investigating the genes involved in hearing impairment and deafness. 16/12/04

Learning about learning disability

Linking genes to learning difficulties. 16/11/04

Are reports of 'gene X for disease Y' always correct?

Studies claiming that a particular genetic variant is associated with a disease should be viewed with caution, as John Pickrell reports. 19/04/04

Type 1 diabetes and the insulin VNTR allele

A variable region of DNA near to the insulin gene has a marked influence on the risk of getting type 1 diabetes. 08/03/04

'Selfish' sperm: FGFR2 and embryo development

Rare mutations may be giving sperm cells a selective advantage, even though they cause damage to offspring. 09/10/03

Inside infertility: The Y chromosome

Deletions in the Y chromosome can lead to infertility. Mark Jobling is turning to fertile men to find out why such deletions occur. 09/10/03

Old disease, new insight: Dyskeratosis congenita

Discovery of a link between two genes responsible for a rare inherited disease, dyskeratosis congenita, is shedding light on the biology of ageing and cancer. 28/04/03

Malaria versus the human genome

Variations in human genes influence susceptibility to malaria. Dominic Kwiatkowski discusses key discoveries and hopes for the future. 04/09/02

Human genes and infectious diseases

Variations in the human genome are associated with differing susceptibilities to infectious diseases. 27/08/02

Growing pains: Investigating skeleton disorders

The human genome sequence is proving a boon to researchers investigating disorders of the skeleton. 02/05/02

The enemies within: The origins of the Cancer Genome Project

Led by Michael Stratton, the Cancer Genome Project is systematically searching for genes involved in cancer. 01/03/02