14th Summer School on ‘Brain Disorders Research’
The annual Summer School on ‘Brain Disorders Research’ [1] is organised by Centre for Neuropsychiatric Genetics and Genomics (CNGG) [2], Cardiff University. This year the fourteenth edition of the summer school was held on July 8-11, 2024 in Cardiff, Wales. Here, I am documenting brief learnings and my reflections on participating in this summer school.
The participants consisted of both students and researchers from neuroscience, and bioinformatics background as well as clinicians who were mainly trainee psychiatrists. We had participants from as far as HongKong and China who came to the UK just to participate in this program.
Given this heterogeneous mixture in the audience, the organisers ensured that sufficient background information is shared before introducing new topics be it neuroimaging or genomics. Since I do not have a background in bioinformatics, this introductory information on it was very important to understand and relate to the state of the art research findings that were shared by the speakers later on.
The 4 days of summer school covered topics relating to genetics, genomics and neuroimaging of psychiatric and neurological disorders. The talks on first day focussed on High Throughput Sequencing while second day focussed on Neuroimaging and Neurology and days 3-4 focussed on Genetics aspects. The wide breadth of techniques and brain disorders covered speaks to the world leading research conducted by CNGG.
Day 1 - 8th July 2024:
After event registration and welcome lunch, the first session on the first day was by Professor Nigel Williams who introduced the principles of high-throughput sequencing covering sample preparation and equipment used.
Then, we had our first of the lab tours on High Throughput Sequencing facilities led by Dr Alexandra Evans and their team. For someone like me who does not have a bioinformatics background this was a great opportunity to understand the wet lab procedures that result in the digital genomics data that were discussed in the rest of the summer school.
After coffee, Dr Elliott Rees spoke about the Analysis and Interpretation of sequencing data. He spoke about sequence data processing and shared recent findings on exome wide sequencing in Schizophrenia which showed that the genetic risk for SCZ is mainly concentrated in the loss of function (LoF) intolerant genes.
The final talk of the day on Copy Number Variants in neurodevelopmental disorders was given by Professor George Kirov. I learnt that CNVs primarily occur due to Low Copy Repeat (LCR) regions and non-allelic homologous recombinations. The key message is that pathogenic CNVs are frequently de-novo in origin. ~5% in SCZ but due to the low survival of CNV carriers, these CNVs get selected against.
Day 2 - 9th July 2024:
The first session on the second day was by Dr Xavier Caseras who introduced how Magnetic Resonance Imaging (MRI) is used to understand mental disorders covering how background information on how contrasts in T1 structural, T2* functional (BOLD), Diffusion Tensor Imaging (DTI) are obtained in an MRI scanner.
Next, we were split up into groups to have a tour of the Neuroimaging facilities of CUBRIC [3] by Professor Neil Harrison and team. We saw the ultra high field 7T MRI scanner used for laminar fMRI given its higher resolution, Lithium and Phosphate imaging apart from Magnetic Resonance Spectroscopy. We also got the opportunity to view one of a kind (4 such in the entire world) the 3T Connectome scanner whose gradient coils and hardware are optimised for performing DTI. We also saw MagnetoEncephaloGraphy (MEG), Hyper Fine 0.06T portable MRI scanner funded by the Gates Foundation.
After coffee, Professor Arianna Di Florio spoke about reproductive psychiatry and the effect of gender and sex on mental health.
After lunch, Professor Stephan Collishaw spoke about a developmental approach to understanding child and adolescent mental health. Given the substantial long term increase in global adolescent MH diagnosis, it is important to research the underlying reason for this. This is an urgent societal challenge requiring timely intervention since 80% of psychiatric conditions begin before 18 years of age, and most young people do not receive treatment. I became aware of ‘Wolfson Summer School’ [4] that provides training on young people's mental health research that I hope to participate in the future.
After coffee, Dr Karim Kreft spoke about the Genetics of Multiple Sclerosis. There are 15 approved disease modifying treatments (DMT) but there is a lack of good predictors of response to treatment and risk of development of sustained disability. So they took a genetics approach to improve the disease modelling. They found a genetic cluster that does not respond to the current DMTs and would benefit from alternate treatments.
Final talk of the second day was by Dr Tom Massey who spoke about Huntington's disease (HD) on how to translate genetics into therapies. It is known that higher the number of CAG repeats (above 40) in the HTT gene leads to HD, we still need to perform GWAS studies to predict the exact age of HD onset.
Day 3 - 10th July 2024:
The first session on the third day was by Professor Anthony Isles on Preclinical mouse models for schizophrenia where he spoke about his work using SETD1A knockout mouse model that lead to 4 genes which have both rare variants as well as common variants. He also highlighted the work of MURIDAE and the MRC National Mouse Genetic Network.
Next, Dr Yasir Syed spoke about the emerging technologies like CRISPR-Cas9, single-cell sequencing. This was followed by the lab tour on how to make neurons from stem cells. We learnt about the typical 100 day period required to convert a skin cell to its pluripotent state using Yamanaka cocktail and then push it to any required neuron type through the application of the right chemicals. Now they have developed techniques to push a cell from one specialised state like skin cell to another specialised state like neuron in 4 days without going through the entire pluripotent stage.
After lunch, we had two parallel sessions - one for clinicians on research careers in medicine by Dr Kimberley Kendall. I attended the session on careers for non-medical scientists by Dr Will Davies. He gave a comprehensive overview of most populars fellowships and grants for early career researchers while highlighting the strengths and likelihood of success of each scheme.
Then we had an industry expert Dr Gerry Dawson, CEO of P1vital Ltd, talk on drug discovery in psychiatry. Their company has now piloted an effective digital intervention in the form of a tetris game to reduce intrusive thoughts in PTSD sufferers. This is exciting since it does not involve any medication and its side effects. Since my hobby is to develop online games (www.iseek.page) I am really excited about this development and hope to explore and contribute to the development of such games used as digital interventions for mental health problems.
After a coffee break, Dr Rhys Thomas, Newcastle University, spoke on the genetics of epilepsy covering the five genetic tests for epilepsy.
Next, Dr Mathew D Hoskins spoke about the use of Psychedelics in psychiatric treatment highlighting his investigation of using MDMA for treating PTSD and using Ketamine for tackling treatment resistant depression.
The final talk of the day was Dr Jeremy Hall, on the importance of application of neuroscience to psychiatry. He highlighted how in future an MRI scan could aid in the diagnosis of mental health problems.
The summer school participants were invited for a social meal at Tiny Rebel Bar. After the dinner, we even watched the EURO semi finals soccer match - England vs Netherlands.
Day 4 - 11th July 2024:
The first talk of the day was by Dr Dmitri Sastin who spoke on how neuroimaging can aid in the epileptic seizure focal localisation that would help in the functional neurosurgery to resect the focal region causing ictogenesis.
Next Dr Emily Simmonds spoke on how to measure the risk for developing Alzheimer’s disease. She highlighted how having the APOE4 gene is the highest risk factor for developing AD but nevertheless more research is required to understand other factors that affect the risk for developing AD.
After coffee, Professor James Walters spoke about the advances in the genetics of psychiatric disorders. He pointed out that Schizophrenia has the highest heritability of all psychiatric conditions. Yet there is much to be done to completely understand the underlying genetic risks.
The final session of the summer school was a workshop on Social and ethical aspects of genetic testing led by Dr Kimberley Kendall and Professor George Kirov. We discussed how incidental genetic findings can be tricky to handle and have to be consented in advance to be able to reveal such details to patients.
Reflections:
I am grateful to the CNGG, Cardiff University for organising such an excellent event and giving me an opportunity to participate in this summer school where I learnt so much about such varied topics. I hope to take the learnings from the summer school to help me further my research. CNGG completely funded the costs of participation in the summer school including registration costs, accommodation and food over the entire duration of the course. Further, I assume that these talks would typically be delivered in their Masters program on Applied Bioinformatics [5] (tuition fees is around £12,000) which allow us to realise the real value of this summer school.
If you wish to learn about genetics of psychiatric and neurological disorders and get a chance to participate in this annual summer school on Brain Disorders Research then do not miss it as it is a great learning opportunity.
References:
[1] Link to the annual summer school on Brain Disorders Research
- https://www.cardiff.ac.uk/centre-neuropsychiatric-genetics-genomics/study/summer-school
[2] Centre for Neuropsychiatric Genetics and Genomics (CNGG), Cardiff University
- https://www.cardiff.ac.uk/centre-neuropsychiatric-genetics-genomics
[3] Cardiff University Brain Research Imaging Centre (CUBRIC)
- https://www.cardiff.ac.uk/cardiff-university-brain-research-imaging-centre/
[4] Wolfson Summer School in Youth Mental Health Research
- https://www.cardiff.ac.uk/wolfson-centre-for-young-peoples-mental-health/training/summer-school
[5] MSc program on Applied Bioinformatics, Cardiff University
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