This conference will discuss rare metabolic disorders, their detection, current research, disease management and treatment.
The deadline for abstract submissions for poster presentation is September 6th 2016
Meeting description: From congenital disorders to inherited metabolic diseases, this event will investigate recent developments in an informal academic setting, with an atmosphere conducive to debate and discussion. With a number of sessions over three days, many aspects of the metabolome will be covered, bringing together those working in academia, medicine, biotechnology and pharmaceuticals.
Rare Metabolic Disorders has an open abstract session. Abstracts can be submitted on any subject related to metabolic research or metabolomics.
Talks Include:
| Talk Title | Speaker | Affiliation | Country |
|---|---|---|---|
| Enzyme replacement therapy for lysosomal storage disorders: the pharmacology of marginal gains | Dr Robin Lachmann | National Hospital for Neurology and Neurosurgery | United Kingdom |
| Biochemical insights into Primary hyperoxaluria type III | Dr Kerry Loomes | University of Auckland | New Zealand |
| Plasma miRNA signatures for following the neoplastic process in hereditary tyrosinemia | Professor Robert M. Tanguay | Université Laval | Canada |
| Steroid profiling for rare diseases | Dr Bruno Vogt, Inselspital | University Hospital of Bern | Switzerland |
| GRK2 as a new integrative node in obesity and insulin resistance: multi organ effects | Dr Cristina Murga | Centro de Biología Molecular Severo Ochoa (CSIC-UAM) | Spain |
| Mobile application for balance training, in people with familial dysautonomia: three case reports | Rosalee Gefen | The Zinman College of Physical Education & Sport Sciences | Israel |
| Next Generation Sequencing (NGS) approach to discovery of rare neuro-metabolic disorders | Dr. Maja Tarailo-Graovac | Centre for Molecular Medicine and Therapeutics | Canada |
| B12 deficiency and Gestational diabetes – an update | Dr Vimal Karani S | University of Reading | United Kingdom |
| Alkaptonuria - Metabolic response to treatment with Nitisinone | Dr Anna M Milan | Royal Liverpool and Broadgreen University Hospitals | United Kingdom |
| Using Dried Blood Spot Testing in the management of Tyrosinaemia Type 1 | Dr Roshni Vara | St Thomas’ Hospital | United Kingdom |
| Role and regulation of the RNA-binding protein Bicc1 in cystic kidney diseases | Professor Daniel Constam | Ecole Polytechnique Fédérale de Lausanne | Switzerland |
| Respiratory Problems in Familial Dysautonomia | Professor Channa Maayan | Hadassah Medical Center | Israel |
| Managing Familial Dysautonomia in a North London DGH: A paediatrician's steep learning curve | Dr Su Laurent | Royal Free London NHS Foundation Trust | United Kingdom |
| Autonomic Dysfunction in Familial Dysautonomia | Dr Ellen Merete Hagen | Consultant Neurologist, Autonomic Unit | United Kingdom |
| Innovative treatment of the porphyrias | Dr. Elisabeth Minder | Stadtspital Triemli - Stadt Zürich | Switzerland |
| Biliary transporter mutations; implications for gestational liver disease | Professor Catherine Williamson | King's College London | United Kingdom |
| The impact of genomics on rare disease research | Dr Jonathan Milner, | Deputy Chairman, Abcam plc | United Kingdom |
| Gene and Cell therapy approaches for Rare Diseases | Dr Takis Athanasopoulos | University of London | United Kingdom |
| Computational approaches to targeted drug design in metabolic diseases | Dr Adina Milac | Biochemistry of the Romanian Academy | Romania |
| The molecular basis of childhood-onset mitochondrial diseases’ for ~30 minutes | Professor Shamima Rahman | Institute of Child Health | United Kingdom |
| Familial Dysautonomia: Genotype, Phenotype and Translational Research | Dr Lucy Norcliffe-Kaufmann | New York University | United States |
| The role of Open Innovation in development of new therapies for rare diseases | Dr Martino Picardo | Stevenage Bioscience Catalyst | United Kingdom |
| Treatable Neurometanolic Diseases in the 21st Century | Dr. Clara van Karnebeek | University of British Columbia | Canada |
| Neurometabolic Disorders in Children | Dr. Germaine Pierre | UHBT, Education Centre | United Kingdom |
| DevelopAKUre: a patient-led clinical trial for a rare disease | Oliver Timmis | AKU Society | United Kingdom |
| EU funding of rare diseases research: rare metabolic disorders in the spotlight | Dr Egle Simelyte | AKU Society | United Kingdom |
| Recent Advances in the Treatment of Mitochondrial Ophthalmic Diseases | Dr. Umur Kayabasi | Lifemed Health Center, Uskudar University, | Turkey |
CPD Credits
| Credits from The Institute of Biomedical Science (code) | Approved by the Royal Society of Biology for purposes of CPD | ||
|---|---|---|---|
| 18(MD044N16) | This event may be counted as 54 CPD credits |
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