Last September we travelled to Rome to take part in the Study of Inborn Errors of Metabolism (SSIEM) conference.
We understand that not everyone can make it to these events and that discussions can inevitably get very scientific, so we’ve cherry-picked the most useful, interesting and promising new findings on inherited metabolic diseases from the two-day conference just for you.
The opening lecture from Professor Eva Morava got the conference off to an inspiring start. As a professor of paediatrics at Tulane University and editor in chief of the Journal of Inherited Metabolic Disease, Professor Morava was perfectly placed to give a lecture entitled ‘Quo Vadis’, Latin for ‘Where are you going?’
Her optimistic answer was ‘To infinity and beyond’!
Professor Morava explored a range of new findings in the field of Inborn Errors of Metabolism (IEM) and looked at the positive advances she sees on the horizon. Her view? That IEM researchers will keep bringing incredible creative thinking and collaborative approaches to the field.
Dr Piero Rinaldo from the Mayo Clinic in the USA was next to take the stage. His encouraging talk looked at how he is improving newborn screening results by embracing fair and transparent collaboration.
One example is his involvement in developing a project called Region 4 Stock (R4S). This international newborn screening database contains mass spec data for 30 million newborns for use as control data, alongside positive cases of newborns with IEMs. The aim? To reduce the false positive rate of diagnostic testing.1,2
Dr Auray-Blais gave a thought-provoking lecture featuring her work on developing an alternative method of diagnosing and monitoring MPS patients. This method analyses a series of biomarkers to help diagnose MPS I, II, III, IV and VI. The clear benefits of this were demonstrated in a test set of 23 samples, in which 30% of the positive results it picked up would have been overlooked using other methods.
Dr Auray-Blais hopes that in the near future, her analysis can be adapted for use on urine samples collected on filter paper. These can then be sent by mail, making it a nonintrusive – and effective – method for diagnosis.
Thanks for reading the highlights from SSIEM 2016. We all felt it was a really positive conference and we were delighted to learn about the valuable progress being made in the rare disease field. We look forward to checking back in and updating you from next year’s valuable meeting of minds.
Everyone living with a rare disease has a story to tell. Whether it affects you directly or you’re a friend, colleague, family member or healthcare professional, we all have our own challenges and ways with dealing with them.