Why is research important?

Research into rare diseases like PHTS is essential if we are to develop better treatments and improve people’s lives. It is challenging but there are things people with PHTS can do to help.

A rare disease

A rare disease is a condition that affects less than 1 person in 2000. This means that if there are 2000 people in a stadium, you could expect that maybe one person would have the condition. Compare this with a common condition like diabetes. In the same stadium, you could expect 117 people to have diabetes (source: Diabetes UK).

Many rare diseases are genetic disorders, and many affect much fewer than 1 in 2000 people. PHTS is a good example. It is unclear how many people have it, but estimates vary from 1 person in 4,500 to 1 person in 250,000. In the UK, for example, it is thought that there are 200 to 300 people living with PHTS.

How research can help

Because so few people have PHTS, we don’t know very much about it. This is both the case for the underlying biology – what causes the disease and how it progresses – but also for the best way to treat it and whether it is possible to cure it.

Research can help answer these questions. It can enhance our understanding of PHTS and help scientists develop better treatments. This can improve outcomes for people with PHTS and give them a better quality of life.

Research is important because...

  • It enables us to live longer. It is not by chance that we are living 10 to 15 years longer now than we were 50 years ago. Through research we learnt how to treat heart disease, how to treat cancer, how to develop a healthier lifestyle. The same thing will apply for PHTS.

    Antonio Hardan, Stanford University

  • It gives people with PHTS a better idea of what will happen, when it will happen, and why.

    Julie Dahle, PTEN Research

  • It is the way to make progress. We can’t just sit there and wait for something to happen. By asking questions and digging deep, we will eventually understand PHTS. The phone, electricity and medicines are just some examples of things that have come out of research.

    Bart Vanhaesebroeck, University College London

  • Research is building knowledge of our rare condition. This will give us the power to learn, adapt and build on treatment and advice to help the PHTS/PTEN community.

    Ellie Collins, PTEN UK & Ireland Patient Group

A research timeline

Research has already led to many hugely important discoveries about PHTS, and continues to drive progress in helping to identify new treatments and understand the condition better.

timeline.png Image

How people with PHTS can help

Rare disease research is challenging because of the small number of people the disorder affects. This means it can be difficult to:

  • Collect enough data to draw meaningful conclusions
  • Recruit enough people for clinical trials and observational studies
  • Raise enough money to do research in the first place

Researchers get around these constraints by collaborating with each other and pooling data. People with PHTS can help by getting involved in research and by raising awareness of the condition. The more people that know about PHTS, the more attention and money it will receive from funding bodies and governments.

People with PHTS can help by...

  • Joining patient groups and engaging with researchers. I have learned a lot from my meetings with patient groups because it really helps to see what’s most important to people who actually live with PHTS.

    Nick Leslie, Heriot-Watt

  • Not being shy. Talk about PHTS, don’t hide, communicate with the press. The more we hear and see about PHTS, the more it will move up the research and clinical agenda.

    Bart Vanhaesebroeck, University College London

  • Participating in research studies and fundraising for research and for education. We need to educate doctors, insurance companies, funding bodies and the public about PHTS.

    Antonio Hardan, Stanford University

  • It is vital we work with the professionals in our area to give them the information they need to conduct their research. Without us, the information is invalid and unrepresentative of our condition! They may not always be able to find us so we need to look out for them!

    Ellie Collins, PTEN UK & Ireland Patient Group

Sign up to a patient registry

A patient registry is a database containing clinical information, systematically collected, about people who share a condition. They can be used to find people who might want to take part in clinical trials and to collect data on how people respond to treatments. 

Find out more about how you can sign up for a patient registry >

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