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An update from Cambridge University Research! July 2023

There is a lot of exciting PWS research going on right now here in the UK at Cambridge University.

Dr Lucie Aman has recently completed her PhD investigating psychosis in PWS. Dr Aman’s PhD study, which was funded by Sam’s Foundation and FPWR, investigated why people with PWS might develop serious psychotic illness.  There are already a number of various medications out there to treat different psychotic illnesses, but we need to ensure there are effective ways to diagnose people with PWS who present with these symptoms as early as possible to offer them the best treatments.  During her investigations, Dr Aman developed cutting-edge methods to explore brain functioning by developing electroencephalogram (EEG) experiments which measure electrical activity generated by neurons in the brain and magnetic resonance spectroscopy (or MRS, which is done in an MRI machine) which measures chemical levels known to be important in psychosis.

The COVID-19 Pandemic made it difficult for Dr Aman to collect face to face data, however a further part of her study used online games to measure IQ and helped her assess how people with PWS see their environment. Early results from this appear to show a difference between the different subtypes of PWS in how sensory information is processed.  Dr Aman has secured funding from FPWR to continue her studies, looking to test more subjects with UPD subtype of PWS to better understand the causes of psychosis in PWS and the differences between subtypes.

Cambridge University has also recruited an outstanding Senior Research Associate, Dr Stephanie Brown, who will be taking the lead on several new PWS projects, and we are excited to hear more about those soon.  One area she is researching is particularly exciting as she is studying the underlying brain processes that lead to overeating, which will then hopefully open new avenues to investigate treatments for hyperphagia.  Dr Brown has used new advances in scan analysis to look at existing brain scans collected by previous work by Kate Manning.  The new advances have allowed Dr Brown to measure the size of the small nuclei that make up the hypothalamus, and she has found smaller sized hypothalamuses in PWS participants than similar aged people without PWS. A paper Dr Brown has already published supports the existing theory that the symptoms of hyperphagia in PWS are different to those in obesity in the general population.  Her new study, for which she is receiving funding from FPWR, aims to characterise the abnormalities in the functioning of the hypothalamus in PWS and how they relate to eating behaviours.  This will hopefully then create evidence to show the underlying brain processes that lead to overeating and help to target future treatments.

We will keep you all updated when we hear any more.