As there are about 6,000 different known genetic disorders in the world, it’s highly likely that everyone knows at least one person with such a condition - yet many people are not aware exactly what a genetic disorder is.
Genetic Disorders UK Genetic Counsellor Emily Clarke has listed some of the key facts everyone should know about genetic conditions.
1. There are thousands of different genetic disorders, all with unique symptoms that can affect an individual’s mental and physical health very differently. Some of the most common conditions include Cystic Fibrosis, Down’s Syndrome, Neurofibromatosis and Sickle Cell Anaemia.
There are, however, lots of other genetic disorders that you may not have heard of. The skin disorder Epidermolysis Bullosa, where skin can blister at the slightest touch, is one, along with Treacher Collins syndrome which affects the development of bones and other tissues of the face plus the neurodegenerative condition Batten disease.
2. Once a genetic condition has been identified in a family, it can be possible to counsel family members about the chance of passing the condition on. The chance of a condition being passed down stays the same for each pregnancy so for example, if a mother and father have a 1 in 4 chance of their child inheriting a genetic disorder, this chance will remain the same for each child they have.
3. Some genetic disorders affect men and women differently. For example, the genetic condition Duchenne Muscular Dystrophy affects men, whereas women can be unaffected carriers.
4. In rare cases, genetic disorders can occur in a child due to a spontaneous change in the DNA sequence of a gene which has not been inherited from either parent. This is due to a natural process which introduces greater genetic variation.
5. While many genetic disorders are caused by changes in single genes, there are others that are due to changes to chromosomes. Down’s syndrome is caused by having an extra chromosome–individuals with the condition have three copies of chromosome 21, instead of the usual two.
6. Some genetic conditions are extremely variable, with some people being affected severely and others mildly, even among members of the same family who have exactly the same genetic change causing their condition. It is thought that other genes, and to some extent environmental factors, also play a role.
7. Once a genetic disorder has been identified, while it cannot be cured, there are many treatments and interventions available that can help ease symptoms. There’s also a huge amount of research ongoing to improve treatments and develop new therapies for the future. Support is also readily available to children, families and support networks, through charities such as Jeans for Genes.