What is Li-Fraumeni Syndrome (LFS)?

What is Li-Fraumeni Syndrome (LFS)?

The goal here is to try to get information to people who have just been diagnosed, who are completely overwhelmed by this whole thing, so let’s start with the basics: what is Li-Fraumeni syndrome? Well, Li-Fraumeni syndrome is an inherited cancer condition. It’s caused by mutations in a gene that’s called TP53. Individuals who have…

UCL Innovators: Dr Mariya Moosajee

Hi, I’m Mariya Moosajee. I’m a Consultant Ophthalmologist at Moorfields Eye Hospital and Senior Lecturer at UCL Institute of Ophthalmology. Genetic eye disease is the leading cause of blindness amongst working age adults, and it also contributes to around 30% of blindness in children worldwide. I’m developing the use of small molecule drugs for the…

Top 10 Bizarre Sleeping Disorders

Top 10 Bizarre Sleeping Disorders

10 Strangest Sleeping Disorders NUMBER 10: SLEEP PARALYSIS Sleep paralysis is a terrifying phenomenon where an individual wakes up during REM sleep, to find that their body is effectively paralyzed. This petrifying encounter can last from several seconds to several minutes and is often accompanied by panic attacks and hallucinations. Stress, depression and lack of…

Living with Ehlers-Danlos Syndrome | The Unseen Truth of EDS [CC]

Living with Ehlers-Danlos Syndrome | The Unseen Truth of EDS [CC]

[Emotional Music] [Static] [Static] [Static] [Static] [Emotional Music] [Music volume lowers] [Music volume decreases more] People often ask what the hardest part about living with Ehlers-Danlos Syndrome is and I think apart from all of the symptoms that you have to deal with daily the hardest part is having people not believe you. Not believing…

Things People With Down’s Syndrome Are Tired of Hearing

Things People With Down’s Syndrome Are Tired of Hearing

Because you never know what might come out of my mouth (laughter) Like “What is Down’s Syndrome?” Bella’s saying. What makes you angry? Smoking Nigel Farage. You don’t like him? Not in the slightest People with Down’s syndrome can’t have relationships Well obviously they can have relationships Kissing is my favourite pastime Yes I reckon…