Presentations on HSP and PLS
The SP Foundation in the USA, covering both HSP and PLS, held its 2017 annual conference over two days in Atlanta in late June.
Presentations can be viewed here with brief notes on sessions and speakers below.
The SPF 2016 Annual Report is also now available.
The SPF medical advisor Dr John Fink presented an update on HSP and PLS – transforming remarkable genetic advances into a path toward treatment. Dr Fink discusses different mechanisms of HSP, different models of studying HSP and raises the issue of the general lack of biomarkers for most forms of HSP.
Dr Christina Fournier spoke about the challenges in research, finding treatments and how to measure responses to treatment such as slowing progression.
Dr Cory Braastad, geneticist and SPF board member spoke about inheritance patterns and all the different ways that the HSPs can be passed on from generation to generation, explaining the main terminology used to describe the genetics involved.
Dr Sabrina Paganoni discussed advances in PLS research, including the development of a registry… essential for clinical trials. She spoke about investigating disease mechanisms of PLS, drugs and the need for animal models.
Dr Jeffrey Statland of the CReATe consortium https://www.rarediseasesnetwork.org/cms/create, an initiative of the Rare Diseases Clinical Research Network, spoke about design and conduct of clinical trials and the CReATe consortium’s charter to develop therapies.