2021 PNS Annual Meeting Vir
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2019 Annual Meeting Genoa, Italy • 22-25 June Centro Congressi – Porto Antico Di Genova
2019 ANNUAL MEETING GENOA, ITALY • 22-25 JUNE CENTRO CONGRESSI – PORTO ANTICO DI GENOVA PROGRAM Program 2019 PNS Annual Meeting 22-25 June Genoa, Italy CONNECT WITH PNS Tag your meeting posts with #PNS2019 @PNSociety1 www.pnsociety.com TABLE OF CONTENTS Welcome . 3 MONDAY Leadership and Program Organizers .........4 Takeda Sympsosium.....................33 Membership Information ..................6 Pharnext Symposium ....................33 About the Society .......................7 Plenary Session: Arthur K Asbury Lecture ....34 Past Meetings...........................8 Platform Session II ......................34 Convention Centre Floor Plan ..............9 Plenary Session: Jack Griffin Lecture ........35 Program At A Glance ....................10 Oral Poster Session II ....................35 General Information .....................12 PNS Annual General Meeting .............36 Acknowledgments ......................14 Lunch & Poster Session II .................36 Individual Meetings .....................16 Special Interest Group Parallel Sessions: Inflammatory Neuropathy Consortium (INC)......................36 PROGRAM Charcot-Marie-Tooth and Related Neuropathy Consortium (CMTR)..........38 SATURDAY International Diabetes Neuropathy Education Course.......................18 Consortium (IDNC) ................... 40 Welcome Reception .....................21 Toxic Neuropathy Consortium (TNC) ......41 Grifols Symposium ......................43 SUNDAY Akcea Symposium ......................43 Kedrion Symposium .....................22 Pfizer -
Queen Square Centre for Neuromuscular Diseases
Queen Square Centre for Neuromuscular Diseases Centre Information www.cnmd.ac.uk 1 Queen Square Centre for Neuromuscular Diseases Partners NHS National Commissioning Group For Highly Specialised Services 2 Contents 1. Overview and mission of the Centre 4 2. Patient-centred clinical services 7 3. Research and the MRC Centre 19 4. Neuromuscular clinical trials unit 24 5. Current clinical trials 25 6. The Cochrane neuromuscular unit 36 7. Photo gallery 37 8. Who’s who in the Centre 41 9. Running the Centre 52 3 1. The new Centre for Neuromuscular Diseases, Queen Square - overview and mission The new Centre for Neuromuscular Diseases at the National Hospital for Neurology and Neurosurgery Queen Square, UCLH-Bloomsbury, is a unique development in UK translational medicine for patients with disabling muscle wasting neuromuscular diseases. The brand new centre facilities which officially opened in December 2009 enables full integration of the highest quality NHS clinical care with cutting edge translational research to benefit patients Nearly 5000 adult patients with muscle wasting neuromuscular diseases are assessed and treated at the National Hospital Queen Square each year. Many neuromuscular diseases develop in childhood and the Centre works closely with the Victor Dubowitz neuromuscular unit at Great Ormond Street to ensure effective transition to adult care. Neuromuscular diseases include genetic and acquired disorders that often cause major disability and premature death. Examples include muscular dystrophies, myositides, mitochondrial diseases, motor neuron diseases, peripheral neuropathies and disorders of the neuromuscular junction such as myasthenia gravis. Although there have been many important genetic and molecular advances in these diseases there are still hardly any effective treatments that benefit patients. -
Genetic and Functional Investigation of Inherited Neuropathies
GENETIC AND FUNCTIONAL INVESTIGATION OF INHERITED NEUROPATHIES Ellen Cottenie MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology Supervisors: Professor Mary M. Reilly, Professor Henry Houlden and Professor Mike Hanna Thesis submitted for the degree of Doctor of Philosophy University College London 2015 1 Declaration I, Ellen Cottenie, confirm that the work presented in this thesis is my own. Where information has been derived from other sources, I confirm that this has been indicated in the thesis. 2 Abstract With the discovery of next generation sequencing techniques the landscape of pathogenic gene discovery has shifted drastically over the last ten years. For the purpose of this thesis, focus was applied on finding genetic causes of inherited neuropathies, mainly Charcot-Marie-Tooth disease, by using both old and new genetic techniques and the accompanying functional investigations to prove the pathogenicity of these variants. Mutations in ATPase 6, the first mitochondrially encoded gene responsible for an isolated neuropathy, were found in five families with CMT2 by a traditional Sanger sequencing approach. The same approach was used to expand the phenotype associated with FIG4 mutations, known as CMT4J. Compound heterozygous mutations were found in a patient with a proximal and asymmetric weakness and rapid deterioration of strength in a single limb, mimicking CIDP. Several appropriate cohorts were screened for mutations in candidate genes with the traditional Sanger sequencing approach; however, no new pathogenic genes were found. In the case of the HINT1 gene, the originally stated frequency of 11% could not be replicated and a founder effect was suggested, underlying the importance of considering the ethnic background of a patient when screening for mutations in neuropathy-related genes. -
ABSTRACT PRESENTERS 2017 PNS Annual Meeting Sitges - Barcelona (Spain) 8 - 12 July
2017 PNS ANNUAL MEETING ABSTRACT PRESENTERS 2017 PNS Annual Meeting Sitges - Barcelona (Spain) 8 - 12 July TABLE OF CONTENTS Sunday 9 July 2017 Poster Session 1…………………………………………………………………..….8:00-8:30 Oral Abstracts………………………………………………………………………...9.00-10.00 Oral Posters…………………………………………………………………………10.30-12.00 Poster Viewing…………………………………………………………………….. 12.00-14.00 Oral Abstracts……………………………………………………………….…….. 14.30-15.30 Oral Posters………………………………………………………………………...15.30-17.00 Hot Topics Symposium…………………………………………………………… 18.00-19.00 Poster Session 1…………………………………………..……………………….17.00-17.30 Monday 10 July 2017 Poster Session 2………………………………………………………………………8.00-8.30 Oral Abstracts……………………………………………………………………….. 9.00-10.00 Oral Posters……………………………………………………………………….. 10.30-12.00 Poster Session 2……………………………………………………………………13.00-14.00 Tuesday 11 July 2017 Poster Session 3…………………………….……………………………………..….8:00-8:30 Oral Abstracts……………………………………………………………………….. 9.00-10.00 Oral Posters………………………………………………………………………...10.30-12.00 Oral Abstracts……………………………………………………………………… 14.30-15.30 Oral Posters………………………………………………………………………...15.30-17.00 Poster Session 3.…………………………………………..………………...…….17.00-17.30 Wednesday 12 July 2017 Poster Session 4…………………………………………………………………..….8:00-8:30 Oral Abstracts………………………………………………………………………...9.00-10.00 Oral Posters…………………………………………………………………………10.30-12.00 Poster Viewing…………………………………………………………………….. 12.00-14.00 2017 PNS Annual Meeting Sitges-Barcelona (Spain) 8 - 12 July SATURDAY 8 JULY 2017 7.30 - 12.00 Individual Meetings 1: CMTR and INC 12.00 - 13.30 PNS