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Research into FAD: Research into FAD: what have we learnt and where are we going?
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
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
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
Then in 1991…
DIAN sites
13 sites worldwideNearly 400 participants so far
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.”
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
What do we do?
What have we learnt so far?
Amyloid deposition may begin at least 15 years prior to dementia onset in mutation carriers
Bateman et al., 2012
Benzinger et al., 2013
• A further 5 years funding has just been approved!
Other recent and future FAD studies at the DRC
New brain scanning techniques
• Aiming to detect early microscopic changes
Ryan et al., 2013
Making FAD brain cells
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
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…
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
None of this would be possible without the generous and invaluable contribution of all the FAD families who participate!
Thanks!!
If you would like to hear more about our FAD research please feel free to get in contact at any time
0203 4483193
