Dr Rickie Patani wins the Paulo Gontijo Award

 

With less than three months until the largest scientific conference on ALS/MND, the International Symposium on ALS/MND, the Paulo Gontijo Institute have recently announced the latest winner of their annual PG Award. Named after the founder of the Brazil-based institute, Mr Paulo Gontijo, the award recognises and encourages research into the disease by carefully considering recent scientific contribution that increased the understanding of MND.

The 2018 winner of the PG Award is the UK-based researcher Dr Rickie Patani of University College London (UCL) for his paper published in Nature Communications in May 2018. This work demonstrated how improper functioning of RNA, a molecule implicated in the creation of proteins from our DNA, leads to degeneration of motor neurones. RNA is crucial for translating genetic information from our DNA into proteins, the main building blocks of our bodies. This is however not true of the whole strand of RNA; the parts of RNA that do not carry a specific code to create a protein, called introns, are usually cut out in order to create a healthy protein. Dr Patani and his team found that this ‘cutting’ does not happen as effectively in MND.

By taking skin cells from people with MND and healthy controls, and transforming them into motor neurones by inducing a pluripotent stem cell state (a state when cells are not yet specialised to perform a specific function), the researchers were able to zoom-in on the functioning of RNA and observe the differences between the affected and healthy motor neurones.

They found that in neurones of people with MND, the RNA introns are not removed the way they are supposed to be, which likely leads to the loss of a protein called SFPQ from the centre of the neurone. This loss was also evident when looking at mice with the familial form of MND as well as spinal cord tissue of people with non-familial (‘sporadic’) MND. Knowing one of the key mechanisms leading to motor neurone degeneration in both familial and non-familial forms of MND will now enable researchers across the world to focus on how this ineffective RNA functioning can be fixed in order to develop effective treatments.

Dr Patani is Clinical Academic Co-Director of the MND Association-funded Care Centre at the National Hospital for Neurology and Neurosurgery in London and a co-lead investigator on two of our research grants investigating novel disease mechanisms in MND. We are delighted that his dedication to care and research has been acknowledged through this prestigious prize. Dr Patani will deliver his winning PG Award presentation during the opening session of the upcoming 29th Symposium on the 7 December in Glasgow, Scotland.

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