Mel & Charlie have three children, Tom, Harry and Rosie. Whole Genome Sequencing identified that both Tom & Rosie have the same ultra rare DHDDS gene mutation. These mutations cause symptoms such as learning difficulties, tremors, myoclonus and seizures all of which can range from mild to severe. As the DHDDS gene was only decided …
Millie has just turned 30. She had her first epileptic seizure when she was just 11 months old and was then diagnosed with the rare genetic condition, Tuberous Sclerosis Complex (TSC). Throughout her childhood, Millie had many seizures and multiple hospital appointments. TSC causes a wide range of symptoms. The most common is epilepsy, but …
I’m proud of my epilepsy. It’s made me who I am. Read More »
Helen’s grandmother died from breast cancer at 48, and then her maternal auntie also passed away when she was just 44. Although Helen’s Mum didn’t have cancer, she couldn’t shake a nagging feeling that something wasn’t right. “I was 19 when my Aunt died and I remember thinking, is this what I’ve got to look …
Rachel has always been very aware of breast cancer after her Mum and Aunt both had breast cancer at an early age. Their experience motivated Rachel to visit her GP who listened to her concerns and put her on the high-risk family register, which opened up the opportunity to have a mammogram every year. It …
When I got my BRCA diagnosis I wondered what my life would be like Read More »
Jenanine is 53 and only found out that she carried the BRCA2 gene at Christmas. Since then she’s had a bi-lateral salpingo-oopherectomy, a total hysterectomy and is currently recovering from a double mastectomy to reduce her risk of breast cancer. Several years ago, Jenanine was invited for a mammogram as part of a random sample …
Knowledge has given me the power to take control and make my own decisions Read More »
Alan’s Mum had bowel cancer when she was 40 years old. Unfortunately, she then developed womb cancer when she was 60 and died. When his brother also died from bowel cancer at just 45, Alan started to look for answers. “I read that bowel cancer could be genetic. I never knew that before, so I …
Genomics has helped me to understand why my family keep getting cancer Read More »
Breast cancer has been a big feature in Hayley’s family. Her Mum died from the illness when Hayley was 14 and both her Auntie’s were also diagnosed. As a result, Hayley, both her sisters and her cousin have all undergone genetic testing for the BRCA gene which is proven to increase your risk of developing …
To celebrate World Pharmacist Day, we’re exploring how genomics is changing the way many pharmacists work. Christian Chadwick is a pharmacist at the University Hospitals Sussex in Brighton where he specialises in neonatal intensive care. He also looks after children who have Cystic Fibrosis. Pharmacogenomics has had an impact on the use of antibiotics in …
Genomics has transformed the use of medicines for my Cystic Fibrosis patients Read More »
To celebrate World Pharmacist Day, we’re exploring how genomics is changing the way many pharmacists work. Pedro Bandeira is a senior pharmacist at St. George’s Hospital in London. He specialises in cardiovascular disease and lipid disorders, and runs innovative pharmacist-led cardiovascular risk and lipid optimisation clinics in South London. At his weekly Cholesterol Clinic, he …
Genomics isn’t new, but it can often be thought of as a niche subject that’s only relevant to pharmacists who specialise in particular areas. This World Pharmacist Day we’re celebrating the many different pharmacists who are using genomics in their every day practice and encourage others to get involved. Lucy Galloway is the Pharmacy Lead …
Pharmacogenomics isn’t a specialist subject. It’s relevant to every pharmacist Read More »
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