Schell Genetics

We support Rare Disease Day.

Learn more about rare diseases here: https://schellgenetics.uk/rare-diseases/

Autism spectrum disorder (ASD) is a neurological condition that affects a person’s behaviour, ability to communicate and social interaction skills. People with autism spectrum disorder understand and interact with the world differently than their peers.

Autism is primarily a genetic condition: Most of the risk for autism comes from genes. Mutations in more than 100 genes are known to lead to the condition. There are four types of tests that can detect these mutations, as well as structural variations that may lead to autism. As researchers learn more about the genetics of autism, the tests have become more informative: More of the mutations they find have ties to autism and to known health consequences.

A genetic test cannot diagnose or detect autism. That’s because myriad genes along with environmental factors may underlie the condition. Roughly 100 genes have clear ties to autism, but no single gene leads to autism every time it is mutated.

Genetic tests are not intended to diagnose autism — no known mutation leads to the condition every time — but, their results can substantially alter the course of treatments or prevention. Some mutations reveal that the carrier is prone to medical conditions such as seizures, obesity or kidney problems, for example. The information can also connect people who share a mutation; some of these individuals and their families have even fostered research by discovering shared traits. And knowing the specific risks associated with a mutation helps families make decisions about having more children.

Speak to Dr Schell-Apacik to get your questions answered.
https://schellgenetics.uk/genetic-consultation-neurogenetics/

In most people, cancer occurs by chance. However, a small number of people who develop breast cancer have inherited a harmful variant (change) in a breast cancer susceptibility gene. Individuals with a harmful variant have an increased risk of developing breast cancer. It’s important to know and understand your risk for the BRCA gene mutation. If you have any of the risk factors, speak with us about genetic testing.

https://schellgenetics.uk/brca/