WELCOME TO THE GOPI3KS WEBSITE
We are a U.K registered charity (1176289) for those living with and affected by Segmental overgrowth in the PIK3CA gene, known as PROS: (PIK3CA Related Overgrowth Spectrum).
So What is PROS (PIK3CA Related Overgrowth Spectrum?)
PIK3CA related overgrowth spectrum (PROS) is an umbrella term for rare syndromes characterised by malformations and tissue overgrowth caused by somatic mutations in PIK3CA gene[1][2][3].
Within the PROS condition malformations are seen in several different tissues such as skin, vasculature, bones, fat and brain tissue depending on the specific disease.
Some patients may fit in to one or more of the following categories, but there will also be those people who don’t & therefore carry with them a diagnosis of just PROS.
What are the subcategories found within PROS?
For more detailed information please see:
Hemihyperplasia multiple lipomatosis (HHML)
Macrodactyly
Fibroadipose overgrowth (FA0)
Muscle hemihypertrophy
Facial Infilitrating lipomatosis
Congenital lipomatous overgrowth, vascular malformations, epidermal naevi and skeletal abnormalities (CLOVES)
Megalencephaly-capillary malformation (MCAP)
Klippel-Trenaunay Syndrome (KTS)
Diffuse capillary malformation with overgrowth (DCMO)
CLAPO Syndrome
Skin disorders:
- Epidermal Nevi
- Seborrheic keratoses
- keratose
- Benign lichenoid keratoses
We know that when you first receive a diagnosis it can leave you with a mixture of emotions & thoughts.
Some of these can be positive, however, it can also leave you with many more questions than answers.
Sometimes it is easier to watch a video than read through lots of medical research papers that can be very confusing.
Here is a Video from NORD / RARE EDU / Osmosis.org explaining what PROS is: WHAT IS PROS
Articles explaining PROS
We understand that many PROS patients will also see other doctors who have very little knowledge of PROS.
This website created by Novartis gives a great breakdown of what PROS is and will hopefully help others understand a little more:
I know there maybe some of you that would like to read in more detail about PROS. So here are a few articles that give more detailed explanations:
EXPLAINING PROS TO CHILDREN.
We understand how difficult it can be to explain PROS to a child living with this condition but also siblings, school friends & children in general.
The following may be of help:
- For more resources please see our page: Childrens’ Resources
EXCITING RESEARCH UPDATE:
Dundee researcher awarded £1.8 million UKRI Future Leaders Fellowship
A researcher from the University of Dundee has been awarded a UKRI (UK Research and Innovation) Future Leaders Fellowship to investigate cellular decision-making processes, potentially unlocking new treatments for various diseases
Dr Ralitsa Madsen from the MRC Protein Phosphorylation and Ubiquitylation Unit (MRC PPU) in the School of Life Sciences has been granted £1.8 million in funding over the next four years.
This support will enable her to explore the intricate PI3K pathway, which plays a crucial role in cellular functions and is linked to disorders such as cancer and human overgrowth syndromes.
Dr Madsen’s research aims to detail the complex circuits regulated by the PI3K pathway and understand how mutations affect cellular decision-making. The PI3K pathway is among the most commonly mutated across human cancers and is therefore the focus of a lot of pharmaceutical research. Read more here: Read the article here
FURTHER GRANT SUCCESS:
We are delighted to announce that a team of UK-based researchers has secured £623,000 in new funding from the Medical Research Council to try to find new ways to tackle CLOVES. The team is spread across three UK Centres – the University of Edinburgh (Professors Robert Semple, Liz Patton and Martin Taylor), the University of Dundee (Dr Ralitsa Madsen) and University College London (Dr Satyamaanasa Polubothu). They will combine studies of tissues from people with CLOVES with studies of fish designed to mimic CLOVES, and blood vessel cells made from genetically engineered human stem cells. The aim is to understand how cells in the body with PIK3CA gene changes disrupt growth, and whether they do this partly by sending signals to surrounding tissue. If these signals are found they will be blocked as potential new treatments in future. Prof Semple said “we are incredibly excited to get going with this work which has only been funded because of the support we received from the CSC to do preliminary work. We believe that combining studies of human tissues with cells and fish in the lab is a really powerful way to answer important questions about exactly how CLOVES develops, and to investigate new ways to block the unhealthy extra growth. All our studies will be very carefully focused on the problems which affect people with CLOVES most.”
This joint funding success comes shortly after Dr Madsen secured a prestigious UKRI Future Leaders Fellowship (FLF) to decode the many faces of PIK3CA activation across a range of human cell systems. Dr Madsen said: “This is an exciting time for all of us in the CLOVES community, and we are incredibly grateful for all prior CSC support. This new MRC-funded project will also inform and be informed by the programme of work supported by my FLF. I am therefore confident that progress for the community will be delivered much faster than what any individual project would have achieved in isolation.” Principal Investigator Ralitsa Madsen
Financial Assistance
Our team at GoPI3Ks understand that living with a rare overgrowth condition can & does lead to extra financial costs.
Our aim is to offer financial grants to those who have been diagnosed with PROS, this has included, but not limited to:
Funding mobility equipment, such as electric wheelchairs.
Funding specialised footwear & clothing.
Help with medical costs.
Funding family weekend expenses (accommodation & travel*)
For anyone who would like to apply for a grant, please fill out our application form here: GOPI3KS APPLICATION FORM
RAREfest24: A Unique Festival Making Rare Disease an Everyday Conversation Did you know that 3.5 million people in the UK are living with rare conditions? That’s roughly the population of Wales! It might sound contradictory to call something “rare” when so many are affected, but with over 10,000 different rare conditions, what may be individually rare becomes collectively common. In fact, 1 in 17 of us may be affected by a rare disease at some point in our lives, making it something we should all be curious about. With this in mind, Cambridge Rare Disease Network (CamRARE) is making it their mission to shine a spotlight on rare diseases. We are proud to be media partners for this essential event in the rare disease calendar.
RAREfest24, taking place on November 23rd and 24th, is not just any festival—it’s a celebration of the rare disease community, designed to spark curiosity, challenge perceptions, and showcase groundbreaking science and innovative technology. This FREE event is perfect for experts and the curious of all ages. Whether you’re a researcher, healthcare professional, student, teacher, or simply someone who loves to learn, RAREfest24 offers a unique opportunity to immerse yourself in a world that’s as fascinating as it is vital.
What to Expect at RAREfest24:
- Inspiring Speakers and Thought-Provoking Panels: Dive into discussions led by experts in the field, as they share the latest advancements in rare disease research, patient advocacy, and innovative treatments.
- Immersive Exhibits and Demos: Explore hands-on exhibits that bring the science and technology behind rare disease research to life. From cutting-edge tech to groundbreaking research, there’s something to captivate everyone.
- Art and Film Showcases: Experience the powerful stories of those living with rare conditions through artistic expression. The ART-TRAnslations exhibition, in particular, is a must-see, offering a unique collaboration between researchers and artists that reimagines the way we perceive rare diseases.
- Family-Friendly Fun: With interactive exhibits and educational activities, RAREfest24 is designed to be an exciting and educational day out for the whole family. Kids can explore, learn, and be inspired by the wonders of science and technology.
Featured Exhibitors Include:
- The Third Thumb Project: Delve into the future of prosthetics and body augmentation with this groundbreaking project that pushes the limits of human capability.
- Microsoft’s Inclusive Tech: See firsthand how Microsoft is collaborating with disability communities to design accessible technology that creates inclusive, human-centric experiences.
- DNA Sequencing for Kids: Engage in a hands-on exhibit with the Wellcome Genome Campus that takes you on a journey through the fascinating world of DNA and whole genome sequencing, showing how our bodies work.
RAREfest24 is more than just a festival; it’s an opportunity to connect with a vibrant community, learn about the latest in rare disease research, and see how technology and art are coming together to make a difference. Whether you’re directly affected by a rare disease or simply curious about the world around you, this festival promises to be a fascinating and enlightening experience.
So, gather your friends and family, and make a day of it! For the experts. For the curious. For all ages. For everyone. And best of all, it’s FREE!
For more information and to secure your free tickets, visit the RAREfest24 website – https://bit.ly/RAREfest24_Home . Don’t miss out on this unique opportunity to be part of something truly special.
ALL STRIPES HAVE RECENTLY BEEN BOUGHT BY PICNIC HEALTH
I know many of you signed up to the All Stripes program some time ago. All Stripes was a platform that made it easy for rare disease patients and caregivers to contribute to treatment research from home. All Stripes partnered with ourselves at GoPI3Ks to create a database that enabled new PIK3CA-related overgrowth spectrum (PROS) research projects. Their ask was for patients/families willing to contribute their de-identified medical records to make this effort as strong as possible.
In November 2023 All Stripes was bought by PICNIC Health: Picnic Health who’s vision is to see your entire health history—at a glance and to contribute to medical research—anonymously and securely. PicnicHealth partners with some of the world’s leading researchers to develop breakthroughs in medicine.
PicnicHealth collects, digitizes, and encrypts all your medical records—then arranges everything in one intuitive timeline. No need to worry about a note from your doctor or the results from a lab. It’s all there for easy reference, right when you need it.
Below is the newsletter from December 2023
GoPI3Ks Newsletter December 2023
Below is the newsletter from December 2022
GoPI3Ks Newsletter December 2022
Below is the newsletter from December 2021
GoPI3Ks Newsletter December 2021
Below is the newsletter from December 2020
GoPI3Ks Newsletter December 2020
Below is the newsletter from December 2019
GoPI3Ks newsletter December 2019
Below is the newsletter from December 2018
GoPI3Ks Newsletter December 2018
Below is the newsletter from December 2017
Gopi3ks newsletter December 2017
Below is the newsletter from December 2016:
GoPI3Ks Newsletter December 2016
Below is the newsletter from January 2016:
GoPI3Ks Newsletter January 2016