2. Aims of this talk
• To give an overview of recent research developments in
FAD, both at the DRC and beyond
• To discuss some of the early results from the DIAN
observational study
• To explain some of the current and future opportunities
that exist at the DRC, for those people from affected
families who are keen to be involved in research
• To explain why we’re optimistic about future advances
3. What is FAD?
•A rare form of Alzheimer’s disease (accounting for
less than 1% of cases)
•Is inherited – usually at a young age – due to a
genetic defect in one of three genes – APP, PSEN1,
PSEN2
4.
5. Why is FAD research so important?
• A key aspect of FAD, which makes it different from
other forms of Alzheimer’s, is that we are able to
identify who will develop the illness before they get
any symptoms
• This gives us the unique opportunity to study the very
earliest changes that occur in the brain, prior to the
onset of symptomatic illness, which will hopefully lead
to earlier effective treatment
• Research findings may be useful in sporadic
Alzheimer’s as well as for FAD
10. DIAN’s goal
“Research suggests that certain brain changes occur years
before actual Alzheimer’s symptoms are detected. One goal
of DIAN is to study these possible changes in people who
carry an Alzheimer’s disease mutation. Other family
members without a mutation will serve as a comparison
group. Another goal of DIAN is to establish a research
database and tissue repository to support research on
Alzheimer's disease by other investigators around the world.”
11. How does the study work?
• Participants come from families known to be affected by
FAD
• Participants can be well or can have symptoms, and do
not need to know their genetic status
• Particpants are asked to come for regular visits, at
between one and three year intervals depending on their
age
• Each visit involves a number of different assessments,
looking at various different ways FAD can affect the brain
• DIAN research visits often combined with our local study
21. New, improved memory tests
• Two new tests currently being assessed,
which aim to detect subtle changes in
memory earlier than is currently possible
• May help tell us more about when changes in
memory first occur
22. Summary
• Results from DIAN and other studies at the DRC continue
to shed further light on the sequence of events that occur
in the brain both before and after the onset of dementia
• Future studies, using new brain scanning techniques, new
memory tests and using stem cells produced from skin
samples, should continue to help to improve our
understanding in a number of different ways
• By understanding where and when changes occur in the
brain we can better target our treatments and monitor their
effects!
DIAN treatment trial starting very soon…
23. We are in a better position than ever
before to make progress in finding
effective treatments that stop, or at least
slow, the disease progress
24. None of this would be possible without
the generous and invaluable contribution
of all the FAD families who participate!
Thanks!!
25. If you would like to hear more about our FAD research please
feel free to get in contact at any time
philip.weston.11@ucl.ac.uk
0203 4483193
