DNA

New study investigating largely unknown genetic condition launched

A new study investigating the genetic condition that causes intellectual and learning difficulties as well as tremors and fertility problems has been launched at University Hospitals of Leicester NHS Trust.

The study, called Reconnect, is targeting children between the ages of three and 17 who have a confirmed diagnosis of Fragile X Syndrome – a genetic condition that is the most common cause of intellectual and learning difficulties, affecting approximately one in every 1,400 men and one in every 1,600 women.

As part of the study, researchers will investigate whether a cannabinoid-based gel, with its psychedelic qualities removed, affords the children taking part a greater control over their behaviours and feelings.

The study will be a “double-blind, randomised controlled trial”, meaning that neither the doctor nor the patients will know if they are receiving a placebo or the real treatment.

Professor Julian Barwell, consultant in genetics at Leicester’s Hospitals and the lead investigator for the Reconnect study, said: “Fragile X Syndrome is linked to the X chromosome and is caused by a ‘spelling mistake’ in a gene.

“As females have two copies of that gene, because they carry two X chromosomes, whereas males only have one copy, because they have an X and a Y chromosome, we tend to find that males are more severely affected. Some people who have Fragile X Syndrome are diagnosed with autism at the same time.

“Females with Fragile X can experience fertility problems or an earlier menopause. If a person has learning difficulties or autism, and especially where there is a wider family history of these conditions through the female side, then a blood test can be used to confirm whether the person has Fragile X.”

The annual campaign raising awareness of the challenges those with a genetic condition face, Jeans for Genes, started this week.

More information on the Reconnect study is available here.

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