Jeans for Genes Day: 22nd of September

Photo by Sergey Nivens/iStock / Getty Images

 

This celeb endorsed day is to raise awareness and money for the 500,000 children living with a genetic disorder. People across the country donned their jeans for the day and raised millions for the Jeans for Genes Grant Programme for care services for children, and information and support for their families. Funding from this appeal has been key to the development of gene therapy at Great Ormond Street Hospital, which has now cured ten children of life-threatening genetic immune deficiency syndrome.

 

Who is it for?

 

Around one in 25 children are born with a genetic disorder, and there are between 4000-6000 diagnosed genetic disorders. This means that there are around 30,000 babies born each year that are diagnosed with some kind of genetic disorder. Some of these are very obvious and are apparent at birth, whereas others are much more subtle and may only be apparent later in childhood – or even later. Genetic diseases such as Huntingdon’s chorea only develop in adulthood.

 

What are the most common genetic disorders?

 

This is a bit difficult to answer as it varies by country, ethnicity, and even region. Some genetic disorders are harmless, such as colour blindness, while others are extremely severe. There are 23 chromosomes in every human cell, consisting of 25,000 genes made up of 3 billion pairs of DNA building blocks. A single mistake when copying the genome of each cell can have devastating consequences, although some mistakes are worse than others. Total loss of a part of a chromosome tends to be more severe than a mutation in a single DNA building block. We’ve included some examples of the more common genetic conditions but there are thousands of others out there, just as there are thousands of genes that could go wrong.

 

1)      Cystic Fibrosis – a mutation in the gene that encodes a salt channel resulting in thick sticky mucus, leading to repeated respiratory infections, problems with digestion and in some cases infertility.

2)      Huntington’s Disease – a mutation in the Huntingtin gene, leading to the gradual build up of a damaging protein in the brain. Symptoms usually start between the ages of 35-44 and are progressive.

3)      Down’s Syndrome – around 775 babies are born per year in the UK with Down’s syndrome. It is caused by the baby having an extra copy of chromosome 21. Why this happens we don’t know, but it is more common in older women.

4)      Duchenne Muscular Dystrophy – usually occurs in boys at around four years old and gets worse fast, with muscle weakness being the main symptom. It is caused by a mutation in the gene for a protein that protects muscle cells from being damaged.

5)      Sickle Cell Anemia – a disease that results in red blood cells being crescent moon shaped rather than flat disks. This means that they are not as good at carrying oxygen around the body, and can get stuck in blood vessels. It is more common in people with African origin because these sickle shaped red blood cells are resistant to malaria, so natural selection has selected for the mutation.

 

Gene therapy has the potential to hugely alter the lives of the ~500,000 people in the UK suffering with a genetic disease, as well as having applications in cancer therapy and treatment of autoimmune disease. Genetic diseases tend to be very debilitating, and often result in reduced life span in addition to the pain and suffering they cause. The more awareness the world of genetic disorders gets the more funds that are likely to be raised. Increased funding comes the ability to push for more research into these disorders and more chances to find cures.