Gene People

Have you heard of Visual Snow Syndrome or Static Vision? Read Irena Nazarian's account of being diagnosed with this rare condition here

Hands up if you have a birthday in September! Why not make your birthday extra special this year by hosting a fundraiser for Gene People! By supporting us, you can change the lives of others experiencing or supporting those with genetic conditions. Every contribution can make a big impact. Let’s turn birthdays into a time for giving back!! 🎂❤️ https://buff.ly/3T7hags #BirthdayFundraiser #genepeople #geneticconditions

Want to be featured on an upcoming episode of the "Once Upon a Gene podcast" with Effie Parks.? Effie will soon revisit an earlier episode called The Beginner’s Guide to Rare Disease. Send in your voice notes reflecting on your rare disease journey—think about what you wish you knew back then, the most valuable lessons you’ve learned, your best advice for new families, or even just a message of hope and encouragement. Send your voice notes to

Many of our helpline callers tell us that health professionals have never heard of their genetic condition and do not know how to respond to their concerns. Our helpline covers all #GeneticConditions and we are here to support professionals as well as patients. Our team has clinical experience:

Did you know that Give as you Live Online is the free and easy way to raise money for Gene People when you shop online with 6,000+ stores. From holidays and travel, to clothing and gifts, you can raise hundreds of pounds from your everyday shopping, all at no extra cost to you. Simply sign up for an account and start shopping! Your support really will make all of the difference to us! https://buff.ly/3rbjHsi

Here's an interesting article on how the UK compares to other countries in terms of access to medicines for those living with a rare disease https://buff.ly/3WvOz5C #raredisease #genepeople #geneticdisorder

The Helpline is closed until Wednesday 28th August for a well-deserved break. Please do leave a message and we will get back to your on our return.

One in 20 people have a rare disease that could present at any point in their lives and can be caused by genes, environmental exposures, or their combined effects. Wondering how AI is helping in the diagnosis of rare diseases? Have a read!

If you’re near Brighton on the 1st September, then please support Ring 20 in raising awareness of r(20) syndrome/rare epilepsy at their stand at Brighton Racecourse during their annual Family Fun Day. With information in the racecard and media/TV coverage on the day, they are hoping to make a huge difference to general knowledge, stigma and misconceptions about difficult to treat epilepsies and why individuals and their families deserve better support, treatment and care, plus a chance to meet with other r(20) families, so please do support if you can!

One of our Partners Action for XP is recruiting new trustees. This is a fantastic opportunity to really make a difference to a rare community. The deadline is 19 August.