X and WHY; an Expert Explains the Scientific Reasons Behind Genetic Disorders Ahead of Jeans for Genes Day. LISA SALMON Learns More

Evening Gazette (Middlesbrough, England), September 11, 2018 | Go to article overview

X and WHY; an Expert Explains the Scientific Reasons Behind Genetic Disorders Ahead of Jeans for Genes Day. LISA SALMON Learns More


Byline: LISA SALMON

IT'S estimated that one in 25 children has a genetic condition of some sort, varying in severity, meaning around 30,000 British babies and children are diagnosed each year.

Some of the conditions are inherited from both parents, others from just one, and some can occur spontaneously as a new genetic event in a child.

To support children and families affected by these conditions, Genetic Disorders UK (geneticdisordersuk. org) runs the annual fundraising campaign Jeans for Genes Day (jeansforgenesday.org), which falls on September 21 this year.

The day simply asks people to wear jeans or denim to school, work or at home, and make a donation to the charity at the same time.

To mark the event, Anna Whaite, a Genetic Disorders UK counsellor, shares eight things everybody should know about genetic disorders....

1 GENES AND GENETIC DISORDERS VARY WILDLY SOME genetic disorders are apparent at birth, while others are diagnosed at different stages throughout childhood, and even into adulthood sometimes.

Anna explains that we all carry thousands of genes (made of DNA and carried on chromosomes inherited from our parents), which are instructions for how our bodies grow and function.

"The exact code of our genes varies from person to person, which is why we're all different," she says. "If someone has an alteration which disrupts a gene, that can cause a genetic disorder."

While some genetic disorders are quite common, others are incredibly rare, and can range from being mild to life-threatening.

They can affect any part of a person, such as vision, hearing, bone growth, skin formation, muscles and more. Some genetic disorders are obvious, altering appearance, growth and mobility, while others cause symptoms that aren't easy to see from the outside, affecting internal organs, thinking processes or metabolism, for instance.

2 WE CAN'T CHANGE OUR GENES ONCE a genetic disorder has been diagnosed, there may be treatments and interventions available to help manage the symptoms, but sometimes there's no medication that can help.

"Living with the disorder can add a huge strain on an individual's

and a family's day-to-day life," says Anna. "We can't simply switch a gene off, take it out, or mend it if it doesn't work properly, although gene therapy and research continues to improve options for the future."

3 CHROMOSOME CHANGES CAN CAUSE SOME GENETIC DISORDERS WHILE many genetic disorders are caused by changes in single genes, others are due to changes to chromosomes, the structures that carry genes. For example, Down's syndrome is caused by having an extra copy of chromosome 21, instead of the usual two.

Other chromosome changes can mean parts of a chromosome are deleted or duplicated, or sometimes swapped around. This can have a significant effect on development and can sometimes be detected during pregnancy scans.

4 GENDER MATTERS SOME genetic disorders affect males and females differently, particularly if they're X-linked (caused by a change in a gene found on the X chromosome). This is because females have two 'X' chromosomes and males have one 'X' and one 'Y' chromosome. …

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