The Global Registry for COL6-related dystrophies Steering Committee comprises a mixture of clinical and research expertise, as well as representation from patients and patient organisations. The committee is chaired by Professor Volker Straub, and collectively they are responsible for:
- Overseeing and approving data requests and trial recruitment enquiries
- Ensuring appropriate quality control and validation of data
- Assessing and approving contracts and confidentiality agreements
- Ensuring the Registry is well governed
If you have any questions about the steering committee please contact the Registry Curator Alison Blain.
Our Steering Committee
Patient Representative and Disability Blogger
My name is Carrie, I am a 29 year-old disability blogger and the founder of Life on the Slow Lane. I have lived my entire life with a condition called Ullrich Congenital Muscular Dystrophy. It is rare, progressive and sadly widely unrecognised. There is currently no cure for UCMD. I have a BA(Hons) degree in Art & English Literature.
Valérie Allamand is a group leader at the Research Center in Myology (Paris). After obtaining a PhD in human genetics from the University Paris, she spent close to 5 years as a post-doctoral fellow in the laboratory of Kevin P Campbell (University of Iowa, Iowa City, USA). She has a long-standing expertise in the genetic basis of rare neuromuscular disorders, and notably her recent research has been focused on several forms of congenital muscular disorders linked to defects in proteins of the extracellular matrix. In particular, her group has modelled and characterized ECM defects in mouse and zebrafish models of COLVI deficiency.
Rachel Alvarez and Gustavo Dziewczapolski
Patient Organisation Representatives (Cure CMD/CMDIR)
Rachel and Gustavo join the steering committee as joint representatives.
Rachel was diagnosed at a very early age with an unspecified CMD, finally confirmed to have Collagen VI CMD in 2009. She graduated Magna Cum Laude from California Polytechnic University, and spent her career working in healthcare finance, operations, and non-profits prior to joining Cure CMD. Rachel volunteered for four years before becoming Cure CMD’s first employee in 2012. She joined Cure CMD’s Board of Directors in 2015 as Secretary. Rachel lives in Los Angeles with her husband, Jesse.
Dr. Dziewczapolski received his Master’s degree from the University of Buenos Aires, followed by a Ph.D. in Neuropharmacology. He then moved to the United States to hone his scientific career, spanning eighteen years in research at UC San Diego and the Salk Institute. Dr. Dziewczapolski became Cure CMD’s Scientific Director in 2016. He is the father of two beautiful daughters, Tatiana and Rafaela, who continue to challenge and inspire him. And to balance his addiction to chocolate, he enjoys surfing and soccer.
Cure CMD’s mission is to advance research for treatments and a cure for the congenital muscular dystrophies, working to improve the lives of those living with CMD through engagement and support of the community. Incorporated in 2008, Cure CMD has cofunded more than $2M in CMD research, building deep relationships with CMD researchers, and has been the catalyst for a number of potential CMD treatments.
The Congenital Muscle Disease International Registry (CMDIR), founded and operated by Cure CMD and sponsored by Cure CMD, A Foundation Building Strength for Nemaline Myopathy, the Joshua Frase Foundation, the RYR1 Foundation, and Team Titin (Foye Family), registers more than 30 subtypes of congenital through late onset dystrophies, myopathies, and myasthenic syndromes. At over 2,500 registrants from 76 countries (2018), the CMDIR is the largest, most comprehensive international patient registry for congenital muscle disease. The CMDIR is a patient-reported database whose goal is to assist in diagnostics, identify care parameters and adverse events, and be a center for clinical trial recruitment.
Cure CMD and the CMDIR partner with many national and international organizations with the goal of sharing data and information critical to finding treatments for CMD.
Registry project manager and curator
Alison has worked in neuromuscular translational research at the John Walton Muscular Dystrophy Research Centre for a decade- first in the field of Duchenne Muscular Dystrophy and Delta-sarcoglycanopathies and now, more recently, as the project manager and curator of this patient registry for COL6-related dystrophies. During her time working in the neuromuscular field, she has become increasingly interested in patient advocacy for rare diseases.
Alison studied Physiology at the University of St Andrews before completing her MRes in Biomedical Sciences at the University of Strathclyde and her PhD in Neurogenetics at the University of Glasgow.
Alison lives in Northumberland with her husband, Tom, and their two young daughters.
My name is Harry and I’m 25 year-old with a passion for all things science. I have Central Core Myopathy, a rare type of congenital muscular dystrophy, which is currently untreatable. I have a masters (MRes) in Neuromuscular sciences and a BSc in Biomedical sciences.
Expert doctor (information to follow)
Patient and Family/Patient Organisation Representative (Fundación Noelia)
Xavi is a member of the board of the Noelia Foundation, which was created specifically to address congenital muscular dystrophy due to collagen VI deficiency. His involvement in the foundation is important on a personal level, as his only nephew is affected by a collagen VI-related condition. His tasks within the Foundation are to support and inform affected families, as well as secretarial tasks.
One of the main commitments of the Foundation is to implement registries for affected patients. Currently, the Noelia Foundation is financing a clinician entered registry in Spain developed by the Hospital Sant Joan de Déu and the Hospital de San Pau in Barcelona. This registry is based on the patient entered Cure-CMD Congenital Muscular Dystrophy International Registry (CMDIR). It is hoped that there will be a great deal of collaboration and cross-talk between these two registries and the Global Registry for COL6-related dystrophies with the purpose of; promoting and supporting biomedical, basic and clinical research to facilitate development of new treatments in the future, and informing diagnosis and prognosis to improve treatment and follow up of patients.
Xavi has a degree in Biology, specializing in Microbiology and Genetics from the University Autonoma de Barcelona. He is married and father of a daughter of the same age as his nephew.
Expert doctor (information to follow)
Patient and Family Representative
As the father of an affected son, Bruce is passionate about the creation of a registry for the COL6-related dystrophies and understands the important role that a disease-specific registry can have in feasibility and recruitment for clinical trials.
Bruce leads a global team in his capacity as General Counsel Global Growth Organization (GGO) for General Electric Company (GE) and is responsible for the provision of all legal, regulatory & compliance services, arising from the operating businesses in the power, energy connections, oil & gas, aviation, healthcare and transportation sectors, across all emerging and developed regions, excluding United States. Bruce is also the General Counsel for the GGO Middle East, North Africa and Turkey (MENAT) region and resides in Abu Dhabi.
Bruce holds BA and LLB degrees from University of Natal, South Africa, and a Master’s degree from Cranfield University, UK. Bruce is married to Justine and they have three children.
Consultant in Neuromuscular Disorders, Honorary Senior Lecturer UCL
Dubowitz Neuromuscular Centre, Institute of Child Health, Great Ormond Street Hospital London, UK
Anna studied medicine at La Sapienza University in Rome, where she also completed her higher medical training and PhD in clinical genetics. Anna has worked at the Newcastle muscle Centre as a speciality doctor in Neuromuscular Genetics for the NSCT Service for rare Neuromuscular disorders from December 2008 to January 2014. She has joined the Dubowitz Neuromuscular Centre from February 2014 where she currently works as a Consultant in Neuromuscular disorders. She is a honorary senior Lecturer at University College, London. She is involved in several of the clinical and research activities of the Centre, in particular for the HSS diagnostic service for congenital myopathies and muscular dystrophies, but also in teaching and clinical research including clinical trials and research on molecular basis of rare neuromuscular disorders. Her main research interests are in new gene discover, clinical characterisation of rare neuromuscular phenotypes in particular congenital myopathies and muscular dystrophies, natural history of diseases as well as genotype/phenotype correlations.
Patient Organisation Representative (Muscular Dystrophy UK)
Jenny is Muscular Dystrophy UK’s Research Communication Manager and is primarily responsible for translating research findings into a language that anyone can understand.
Before joining Muscular Dystrophy UK in 2015, Jenny completed a PhD in mitochondrial biology at University College London.
Muscular Dystrophy UK is the charity for the 70,000 people living with muscle-wasting conditions in the UK.
- We support research to drive the development of effective treatments.
- We ensure access to specialist NHS care and support.
- We provide a range of services and resources to help people live as independently as possible.
Volker Straub (Principle Investigator and Chair)
Professor of Neuromuscular Genetics, Harold Macmillan Professor of Medicine
Director, John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
Volker was trained as a Pediatric Neurologist at the University of Düsseldorf and the University of Essen in Germany. After his PhD thesis on Duchenne muscular dystrophy he worked as a postdoctoral research fellow at the University of Iowa. In 2003 Volker joined Newcastle University as the Harold Macmillan Professor of Medicine. He is the Deputy Director of the Institute of Genetic Medicine and Director of the Newcastle University John Walton Muscular Dystrophy Research Centre.
One of Volker’s main interests in muscle diseases is around translational research. He was the founder of the EU FP6 funded network of excellence for genetic neuromuscular diseases, TREAT-NMD (http://www.treat-nmd.eu/), which he coordinated together with Kate Bushby. The ultimate goal of the now global TREAT-NMD Alliance is to accelerate the development and delivery of treatments for patients with neuromuscular diseases. Volker has a long-standing interest in the pathogenesis of genetic muscle diseases, with research using zebrafish and mouse models. His current research also involves the application of magnetic resonance imaging, next generation sequencing and other –omics technologies for the characterization of primary neuromuscular disorders.