WHAT’S THE ISSUE?
Worldwide, an estimated 263–446 million
people have a rare disease — as much as 6% of
the planet’s population. Most of these diseases
are chronic and uncurable. Unfortunately, the
large number of rare diseases means that
individual conditions don’t get a lot of attention
and can become forgotten. Getting a diagnosis
is difficult and treatments frequently don’t exist
beyond managing symptoms.
WHAT ARE WE DOING?
First, we’re creating a big database of
information on rare diseases. We think there’s
a lot to learn about relationships between
different diseases. There are thousands
and thousands of published papers describing
different diseases, yet there’s no central
repository where all that information is
assembled in one place and set up so
that it can be queried.
We hope that the database we’re
creating will help reveal pathways shared
between different diseases. For example, is
there a common abnormality leading to poor
growth? Alternatively, why is it that some
patients with an immunodeficiency syndrome
suffer from frequent infections, but others
rarely get sick — even though the same gene is
affected in all patients? What can we learn by
combining as much information as possible in
one place? We already have 77 different
conditions in our database and have made
basic analytics software to query the data.
Our software is free to use on our website.
We understand that this project is
enormous, but we’re hoping that one day
it will become an important source forSignal Boost
information for rare disorders.
Second, we’re making tools that can be used
in clinical trials — such as syndrome-specific
scales that can be used to sort patients into
different severity groups. It’s important to put
trial participants into similar groups, because
when groups are too different, it’s possible that
the effects of a drug candidate get blurred and
are missed. Tools like these exist for common
diseases, but they’re still unusual in rare
diseases. Yet they’re very important.Want to help?
We’re a small charity and our resources
are limited. Your contributions can help us
add new diseases to our database and/or
add new functions to our software.
For more information, visit our website at
http://www.forgottendiseases.org.Welcome to our Signal Boost project – a page for charitable organisations
to get their message out to a global audience, free of charge. Today, a
message from The Forgotten Diseases Research Foundation
Help for rare diseases
Emily and Sam
have ataxia-
telangiectasia,
a rare disease
we study