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Emma Heslop
Researcher at Newcastle University
Publications - 9
Citations - 335
Emma Heslop is an academic researcher from Newcastle University. The author has contributed to research in topics: Duchenne muscular dystrophy & Internal medicine. The author has an hindex of 5, co-authored 6 publications receiving 305 citations.
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Journal ArticleDOI
RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research
Rachel Thompson,Louise Johnston,Domenica Taruscio,Lucia Monaco,Christophe Béroud,Ivo Gut,Mats G. Hansson,Peter-Bram A. ’t Hoen,George P. Patrinos,Hugh Dawkins,Monica Ensini,Kurt Zatloukal,David Koubi,Emma Heslop,Justin Paschall,Manuel Posada,Peter N. Robinson,Kate Bushby,Hanns Lochmüller +18 more
TL;DR: RD-Connect is a global infrastructure project initiated in November 2012 that links genomic data with registries, biobanks, and clinical bioinformatics tools to produce a central research resource for rare diseases.
Journal ArticleDOI
The TREAT-NMD duchenne muscular dystrophy registries: Conception, design, and utilization by industry and academia
Catherine L. Bladen,Karen Rafferty,Volker Straub,Soledad Monges,Angelica Moresco,Hugh Dawkins,Anna J. Roy,Teodora Chamova,Velina Guergueltcheva,Lawrence Korngut,Craig Campbell,Yi Dai,Nina Barišić,Tea Kos,Petr Brabec,Jes Rahbek,Jaana Lahdetie,Sylvie Tuffery-Giraud,Mireille Claustres,Rabah Ben Yaou,Maggie C. Walter,Olivia Schreiber,Veronika Karcagi,Agnes Herczegfalvi,Venkatarman Viswanathan,Farhad Bayat,Isis de la caridad Guerrero Sarmiento,Anna Ambrosini,Francesca Ceradini,En Kimura,Janneke C. van den Bergen,Miriam Rodrigues,Richard Roxburgh,Anna Lusakowska,Jorge Oliveira,Rosário Santos,Elena Neagu,Niculina Butoianu,Svetlana Artemieva,Vedrana Milic Rasic,Manuel Posada,Francesc Palau,Björn Lindvall,Clemens Bloetzer,Ayşe Karaduman,Haluk Topaloglu,Serap Inal,Piraye Oflazer,Angela Stringer,Andriy V. Shatillo,Ann Martin,Holly L. Peay,Kevin M. Flanigan,David Salgado,David Salgado,Brigitta von Rekowski,Stephen Lynn,Emma Heslop,Sabina Gainotti,Domenica Taruscio,Jan Kirschner,Jan J.G.M. Verschuuren,Kate Bushby,Christophe Béroud,Hanns Lochmüller +64 more
TL;DR: How the TREAT‐NMD national patient registries for DMD were established and how successful they have been at fostering collaboration between academia, patient organizations, and industry are described are described.
Journal ArticleDOI
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers.
Sabina Gainotti,Paola Torreri,Chiuhui Mary Wang,Robert Reihs,Heimo Mueller,Emma Heslop,Marco Roos,Dorota Mazena Badowska,Federico de Paulis,Yllka Kodra,Claudio Carta,Estrella López Martín,Vanessa Rangel Miller,Mirella Filocamo,Marina Mora,Mark Thompson,Yaffa R. Rubinstein,Manuel Posada de la Paz,Lucia Monaco,Hanns Lochmüller,Domenica Taruscio +20 more
TL;DR: The RD-Connect Registry & Biobank Finder is a tool that helps RD researchers to find RD biobanks and registries and provide information on the availability and accessibility of content in each database, including aggregated data and metadata from participating databases.
Journal ArticleDOI
Guidance in Social and Ethical Issues Related to Clinical, Diagnostic Care and Novel Therapies for Hereditary Neuromuscular Rare Diseases: “Translating“ the Translational
Pauline McCormack,Simon Woods,Annemieke Aartsma-Rus,Lynn Hagger,Agnes Herczegfalvi,Emma Heslop,Joseph Irwin,Janbernd Kirschner,Patrick Moeschen,Francesco Muntoni,Marie-Christine Ouillade,Jes Rahbek,Christoph Rehmann-Sutter,Francoise Rouault,Thomas Sejersen,Elizabeth Vroom,Volker Straub,Kate Bushby,Alessandra Ferlini +18 more
TL;DR: The paper describes how the PEC has responded to substantive ethical issues raised within the TREAT-NMD consortium and how it has provided a wider resource for any concerned parent, patient, or clinician to ask a question of ethical concern.
Journal ArticleDOI
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development
Emma Heslop,Cristina Csimma,Volker Straub,John M. McCall,Kanneboyina Nagaraju,Kathryn R. Wagner,Didier Caizergues,Rudolf Korinthenberg,Kevin M. Flanigan,Petra Kaufmann,Elizabeth McNeil,Jerry R. Mendell,Sharon E. Hesterlee,Dominic J. Wells,Kate Bushby +14 more
TL;DR: A number of recurrent themes emerged over the course of the reviews and it was found that applicants frequently require advice and education on issues concerned with preclinical standard operating procedures, interactions with regulatory agencies, formulation, repurposing, clinical trial design, manufacturing and ethics.