What does this year’s Nobel Prize mean for dementia research?

Two scientists have been awarded the prestigious Nobel Prize in Chemistry for developing ‘genetic scissors’ to edit DNA.

Emmanuelle Charpentier and Jennifer Doudna are the first two women to share the prize worth over £850,000.

Their discovery, known as CRISPR-Cas9, is a way of making specific changes to the DNA in living cells.

Why would you want to change DNA?

DNA is the blueprint for making us who we are. It holds the information needed to make specific proteins, which allow our bodies to function.

But errors in this DNA code can change the make-up of proteins and can lead to disease. With your support, our scientists are looking closely at how DNA changes contribute to the diseases that cause dementia.

Ultimately understanding these disease changes in more detail will get us closer to our mission of bringing about the first life changing dementia treatment.

So, how does this Nobel Prize winning technique work?

This amazing process uses a protein taken from bacteria. An enzyme, which speeds up reactions, called Cas9 acts like a pair of molecular scissors, cutting strands of DNA.

It can be directed to cut any region of DNA by a component known as CRISPR. CRISPR identifies a specific string of DNA, helping pinpoint a precise sequence to be cut.

The genetic scissor, Cas9 then snips the DNA, deleting it. If desired, it can also allow a section of it to be replaced by another piece of DNA introduced at the same time.

You could think of it like your find and replace function on Word.

These small changes are extremely precise, quite cheap and can done in the lab with relative ease.

However, CRISPR-Cas9 is not without its drawbacks as it is not yet a hundred percent efficient – sometimes it cuts where it is not supposed to. But it is a new technique and has already revolutionised how dementia researchers study genes of interest in the lab.

How is it used by Alzheimer’s Research UK’s scientists?

A lot of media attention around CRISPR-Cas9 is focused on the idea of using it clinically to cure disease. However, this could be some way off. It is a powerful technology, but it is at an early stage and a lot more discussion about the ethics surrounding this use is required. But this technique is already helping research in other ways.

While most cases of dementia aren’t directly inherited, our knowledge about rare genetic cases is guiding our research about the more common forms of the condition. Research shows our genes play an important role in the development of diseases and as the UK’s leading dementia research charity, we fund pioneering research into understanding these genetic changes.

Your support allowed Prof Selina Wray and Dr Charlie Arber at University College London to use the technique to create cells in a dish and study a gene to help us understand how things go wrong in Alzheimer’s disease.

She studied a gene involved in amyloid production – one of the hallmark Alzheimer’s proteins.  She used CRISPR-Cas9 to alter the gene known as PSEN1.

Using the technique, she found that the role of PSEN1 differs depending on whether it is lost completely or is only partially disrupted. The work helped shed further light on the role of the PSEN1 gene in amyloid production and provided insights that may guide how future treatments could target this process.

The technique was vital for their work. It allowed the team to generate experiments using cells from people with Alzheimer’s and directly compare against other cells from people without the disease.

We know that lots of different genes can change our risk of developing dementia. And as no two people have the same genes, this means it can be difficult to understand how changing one gene can impact our cells.

CRISPR-Cas9 meant the team could keep all the other genes the same and carefully change the one gene they were interested in.

Using this targeted technique, Prof Wray and her collaborator were also able to generate all the genetically edited cells she needed in just one go. Time is vital in research and the quicker we find key breakthroughs the better.

It’s just one example of how a discovery advancing scientific research has benefited the dementia field.

Want to find out more?

This is an exciting research area, and our dedicated and knowledgeable Dementia Research Infoline team are here to answer your questions about research like this into the condition.

You can call the Infoline from 9.00-5.00pm Monday to Friday on 0300 111 5 111 or email infoline@alzheimersresearchuk.org

 

You can also find out what part genes play in dementia and how genetics can affect the risk of developing the condition.
Read more

 

With COVID-19 causing the charity to lose an expected 45% in income this year, your support can help fund research like this. Just £20 will fund one hour of laboratory research, so please consider donating here.
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