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Familial Alzheimer's Disease (FAD) is a rare form of Alzheimer's disease, generally affecting individuals below the age of 60. Since the disease is autosomal dominant, children of affected parents have a 50% chance of developing it themselves, usually at a similar age to their affected parent. FAD is also known as Autosomal Dominant Alzheimer鈥檚 Disease (ADAD) and Dominantly Inherited Alzheimer鈥檚 Disease (DIAD).
It was at 香港六合彩中特网, in 1991, where the first FAD gene (APP) was identified. 听FAD research at the Dementia Research Centre (DRC) has contributed towards many advances over the last three decades. Research has accelerated significantly and now we have treatment trials that offer hope of slowing disease progression or even preventing the onset of symptoms.听
What is FAD?听
The science and history behind FAD听
The FAD research group at the DRC runs several studies aiming to deepen our understanding of the disease, develop early detection tools, and improve monitoring of changes 鈥� all with the goal of finding effective treatments.听
Key strengths of the DRC include its expertise in developing brain scanning techniques, sensitive cognitive tests, and new blood biomarkers for dementia, and these are a focus of the main 鈥減arent鈥� longitudinal study as well as related sub-studies.听
Our studies include:
- Longitudinal study of FAD (鈥淟ocal FAD study鈥�)
Overview
The DRC has been conducting a longitudinal study into Familial Alzheimer's Disease (FAD) for over twenty years.听
Since participants at risk of developing the disease are assessed prior to the onset of any symptoms, we are able to obtain valuable information on the earliest signs of the disease.听
Additionally, by tracking individuals over many years, we gain insight into how the disease progresses.
This work will improve our ability to diagnose the disease earlier, track disease progression, and assess any new potential biomarkers.听
What鈥檚 involved
Participants come to the DRC to complete neurological, imaging, and neuropsychological assessments. We collect samples and ask about family trees and general health and wellbeing. Activities typically take place on an annual basis.听
Who can take part
We see individuals from families affected by FAD as well as individuals with no known risk of AD and those with a diagnosis of mild cognitive impairment (MCI) or non-autosomal dominant (鈥渢ypical鈥�) Alzheimer鈥檚 Disease.
We remain incredibly grateful to all the participants who have so generously contributed to this research.听
If you are interested in learning more, please contact us at uclh.fad@nhs.net.
- Magnetoencephalography (MEG) sub-study
Overview
The MEG study is a sub-study of our Longitudinal study of FAD. The purpose of this research is to measure directly brain activity in real-time to find biomarkers that would accurately reflect early changes in brain function in Alzheimer鈥檚 disease and relate those changes to symptoms.听
To do this, we perform a MEG scan to study unique patterns of magnetic waves made by the brain cells of a participant while they are performing different mental activities, e.g. viewing pictures, doing a memory game, and/or resting.听
The MEG scan is very safe as it is non-invasive, quiet, and does not produce radiation. Participants sit upright and interact with a computer during the scan.听What鈥檚 involved听
The study involves two short sessions over two consecutive days.听
On day 1, there is a computer-based practice session (1 hour).听
On day 2, there is a MEG scanning session with the participant performing the same activity they practised on the previous day in the MEG scanner (total of 1.5 hours, including 30 minutes for preparation, 45 minutes for the MEG scan and 15 minutes for a debrief).听
For participant comfort, the 45-minute scan is broken into 6-7-minute blocks.听
We organise a repeat two-day visit approximately 12 months after the initial scan.听
Who can take part
We are currently recruiting from families affected by FAD and patients with mild cognitive impairment (MCI) due to sporadic (non-familial) Alzheimer鈥檚 disease.
- DIAN Observational study听
Overview
The DIAN Observational study is an international collaborative research project studying FAD. There are 14 centres worldwide, including one here at the DRC. The aim of the DIAN Observational study is to look at changes that occur in the brain in FAD even prior to the onset of any symptoms, and on a larger scale than has ever been possible before.
What鈥檚 involved
For this study, in-person research visits are completed every other year. These involve a number of activities which help us to look at FAD from a number of different perspectives, including neurological examinations, psychology assessments, and imaging. We also collect samples and complete a lumbar puncture. In the interval year, visits are typically a brief telephone call.
Who can take part
This study invites people who are at risk of FAD (have a parent with the condition, but do not know their own genetic status), those who know they are carriers of a FAD gene, and those with symptoms of FAD to take part.听
- DIAN-TU Clinical Trials
DIAN-TU (Dominantly Inherited Alzheimer鈥檚 Disease/FAD 鈥� Trials Unit) is the clinical research arm of DIAN, and has just one research facility in the UK, based here at 香港六合彩中特网.听
DIAN-TU鈥檚 primary goal is to implement effective, safe, and efficient clinical trials. Research within DIAN-TU is likely to advance a broader understanding of all types of Alzheimer鈥檚 disease with regards to causes, early detection, diagnosis, the effects of multiple classes of drugs, and the impact of treating Alzheimer鈥檚 disease early.
Click here to find out more about clinical trials at 香港六合彩中特网.
- Fibroblast study
Overview
The aim of the Fibroblast study is to investigate why brain cells generated from people living with Familial Alzheimer鈥檚 Disease behave differently to those from control participants to inform the development of future treatments. 听
What鈥檚 involved
In this study we take a skin sample from the upper arm under a local anaesthetic. 听 听
We use this skin sample to grow cell types from the skin (fibroblasts) in the laboratory. In a small petri dish, these cells are grown into stem cells and nerve resembling neurons in the brain.
Who can take part
This study invites people who know they carry the gene that causes FAD, those living with symptomatic FAD, and healthy volunteers (those not known to be at risk of FAD) to take part.
Click to find out more .
- 7T (7 Tesla) MRI study
Overview
Magnetic Resonance Imaging (MRI) is a painless and safe technique used to obtain detailed pictures of the brain. MRI uses magnetic fields to generate the pictures, and unlike X-ray techniques, no ionising radiation used.听
This study aims to further our understanding of the earliest Alzheimer鈥檚 disease-related brain changes and to assess whether scanning at a higher MRI magnet strength can provide more precise and detailed information than the current standard.This research uses a special type of MRI known as 鈥渦ltra-high field MRI鈥� or 鈥�7 Tesla MRI鈥�. This means the scanner is using a stronger magnet to take images of the brain compared with the other routinely used MRI scanners, such as those found in hospitals. The reason for using this type of MRI is that it allows us to obtain much more detailed pictures at a much higher level of magnification, allowing us to explore specific changes in a way not previously possible.
The following image is an example of a detailed brain image obtained from the new ultra-high field (7T) scanner.
What鈥檚 involved
The scan is very similar to having any other MRI scan. You will be lying down flat with your head held still. The staff member operating the scanner will speak to you every few minutes throughout the scan. The scan takes around 45-50 minutes in total.
We will invite participants to complete two scans, approximately 24 months apart.
Who can take partAnyone involved in our main Longitudinal FAD study is welcome to indicate interest in taking part.听
Before scheduling a scan, a researcher will check that you are suitable for scanning in the 7T MRI. They will ask a number of safety questions, including about previous operations you may have had.
Depending on answers to the safety questions, some additional information may be required before scheduling the scan.
Anyone interested in taking part, or who would like further information, should please contact Dr Phil Weston (philip.weston@ucl.ac.uk).- Sleep and Accelerated Forgetting
In later 2024, we will launch a sub-study focused on developing and using novel digital approaches to investigate and monitor early AD-related changes. 听The sub-study will not require participants to come to a hospital or research centre for testing; activities can be undertaken when at home.
The study will use a test developed for mobile phones able to detect very early and subtle changes in memory, long before any symptoms develop. This information has the potential for aiding earlier diagnosis and for monitoring the beneficial effects of new drugs. The phone application (app) assesses how well one is able to retain and consolidate new information over a 7-day period 鈥� a longer period than we are able to assess in a clinic.
A key factor in retaining new memories, and something that can be disrupted early in AD, is the quality of one鈥檚 sleep. A second digital test, using a mat placed under the mattress, will allow us to monitor digitally sleep in a completely unobtrusive way, providing a wealth of data and potentially detecting subtle changes that would otherwise go unnoticed. This technology provides a potential new way to detect early changes in physiology and behaviour while people go about their daily lives, without study participants having to engage in any specific testing.
Anyone interested in taking part, or who would like further information, should please contact Dr Phil Weston (philip.weston@ucl.ac.uk).
The Queen Square Brain Bank for Neurological Disorders holds a unique archive of brains and tissue.听These have been generously donated by individuals with and without a neurogenerative disease.听If you鈥檇 like to talk more about this, please contact us at uclh.fad@nhs.net.
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