Event Announcements

Rare Metabolic Disorders 2016 – 20th – 22nd September, London

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This conference will discuss rare metabolic disorders, their detection, current research, disease management and treatment. 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 from all over the world.

 

Metabolic diseases disrupt normal metabolism which is the process of converting food to energy on a cellular level. They affect the ability of the cell to perform critical biochemical reactions that involve the processing or transport of proteins, carbohydrates, or lipids.

 

Most metabolic diseases are inherited disorders and are caused by mutations that result in incorrectly functioning or missing enzymes that are needed for cells to perform metabolic processes. There are a large number of metabolic diseases, disorders and conditions that affect a vast array of areas of the body from the respiratory system to the eyes.

 

Dr. Umur A. Kayabasi, from the Lifemed Health Center in Turkey, will be discussing the “Recent Advances in the Treatment of Mitochondrial Ophthalmic Diseases.” He will be focussing on two diseases in particular: Chronic Progressive External Ophthalmoplegia and Leber’s Hereditary Optic Neuropathy. “There are extremely important developments in both conditions which were incurable until recently.  For CPEO, there is a very promising drug therapy trial going on in the US and for LHON, gene therapy trials have started in Paris”. Dr Kayabasi will be giving the initial results of these novel treatments.

 

Some metabolic disorders can be treated if diagnosed early and if treatment is started at a young age. However, others have no effective therapy and can cause severe problems, despite early diagnosis. Therefore there is a lot of research being conducted into novel treatments in many areas, including gene therapy.

 

Rare Metabolic Disorders 2016 will explore some of these new options through various talks over the three days. Dr Takis Athanasopoulos, University of London, will be speaking about “Gene and Cell therapy approaches for rare diseases,” Dr Martino Picardo, Stevenage Bioscience Catalyst, will be discussing “The role of Open Innovation in development of new therapies for rare diseases,” and Dr Adina Milac, Institute of Biochemistry of the Romanian Academy, will explore “Computational approaches to targeted drug design in metabolic diseases.”

 

Treating metabolic disorders requires a wholesome approach whereby non-medicinal treatment may also be needed in order to restore quality of life. Familial dysautonomia (FD) is a rare genetic disease that impairs vital functions and causes neural and motor deficiency. These deficiencies are often characterised by static and dynamic instability as well as by osteoporosis. As a result people with FD are at a high risk of falls, physical impairment and fractures.

 

There will be a whole session on FD with a number of speakers discussing the disease, its detection and research into treatment. As well as novel medicinal treatments, novel ways to use technology for therapeutic effects are being developed to help treat FD.

 

Rosalee Gefen, from The Zinman College of Physical Education & Sport Sciences in Israel, will be speaking about a new mobile application for balance training in people with Familial dysautonomia. She said “Balance training for people with FD poses unique challenges so there is a need for ways to deliver active balance training to these individuals in a safe and feasible manner. As they rely mainly on vision for balance, an iPhone application was designed to train balance by interfering with the anticipatory processing of visual information, therefore challenging the somatosensory and vestibular system to supply information.”


AgendAbstract book

 

 

 


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.


Deadlines

  • The deadline for abstract submissions for oral presentation is June 10th 2016
  • The early registration deadline is 30th July 2016
  • The deadline for abstract submissions for poster presentation is September 6th 2016

Register now for this Euroscicon Event


Rare Metabolic Disorders has an open abstract session. Abstracts can be submitted on any subject related to metabolic research or metabolomics.


Talks Include:

Talk TitleSpeakerAffiliationCountry
Enzyme replacement therapy for lysosomal storage disorders: the pharmacology of marginal gainsDr Robin LachmannNational Hospital for Neurology and NeurosurgeryUnited Kingdom
Biochemical insights into Primary hyperoxaluria type IIIDr Kerry LoomesUniversity of AucklandNew Zealand
Plasma miRNA signatures for following the neoplastic process in hereditary tyrosinemiaProfessor Robert M. TanguayUniversité LavalCanada
 Steroid profiling for rare diseasesDr Bruno Vogt, Inselspital University Hospital of BernSwitzerland
GRK2 as a new integrative node in obesity and insulin resistance: multi organ effectsDr Cristina MurgaCentro de Biología Molecular Severo Ochoa (CSIC-UAM)Spain
Mobile application for balance training, in people with familial dysautonomia: three case reports

Rosalee GefenThe Zinman College of Physical Education & Sport SciencesIsrael
Next Generation Sequencing (NGS) approach to discovery of rare neuro-metabolic disordersDr. Maja Tarailo-GraovacCentre for Molecular Medicine and TherapeuticsCanada
B12 deficiency and Gestational diabetes – an updateDr Vimal Karani SUniversity of ReadingUnited Kingdom
Alkaptonuria - Metabolic response to treatment with NitisinoneDr Anna M MilanRoyal Liverpool and Broadgreen University HospitalsUnited 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 diseasesProfessor Daniel ConstamEcole Polytechnique Fédérale de LausanneSwitzerland
Respiratory Problems in Familial DysautonomiaProfessor Channa MaayanHadassah Medical CenterIsrael
Managing Familial Dysautonomia in a North London DGH: A paediatrician's steep learning curveDr Su LaurentRoyal Free London NHS Foundation TrustUnited Kingdom
Autonomic Dysfunction in Familial DysautonomiaDr Ellen Merete HagenConsultant Neurologist, Autonomic UnitUnited Kingdom
Innovative treatment of the porphyriasDr. Elisabeth MinderStadtspital Triemli - Stadt ZürichSwitzerland
Biliary transporter mutations; implications for gestational liver diseaseProfessor Catherine WilliamsonKing's College LondonUnited Kingdom
The impact of genomics on rare disease researchDr Jonathan Milner,Deputy Chairman, Abcam plc United Kingdom
Gene and Cell therapy approaches for Rare DiseasesDr Takis AthanasopoulosUniversity of LondonUnited Kingdom
Computational approaches to targeted drug design in metabolic diseasesDr Adina MilacBiochemistry of the Romanian AcademyRomania
The molecular basis of childhood-onset mitochondrial diseases’ for ~30 minutesProfessor Shamima RahmanInstitute of Child HealthUnited Kingdom
Familial Dysautonomia: Genotype, Phenotype and Translational ResearchDr Lucy Norcliffe-KaufmannNew York University United States
The role of Open Innovation in development of new therapies for rare diseasesDr Martino PicardoStevenage Bioscience CatalystUnited Kingdom
Treatable Neurometanolic Diseases in the 21st CenturyDr. Clara van KarnebeekUniversity of British ColumbiaCanada
Neurometabolic Disorders in ChildrenDr. Germaine PierreUHBT, Education CentreUnited Kingdom
DevelopAKUre: a patient-led clinical trial for a rare diseaseOliver TimmisAKU SocietyUnited Kingdom
EU funding of rare diseases research: rare metabolic disorders in the spotlightDr Egle SimelyteAKU SocietyUnited Kingdom
Recent Advances in the Treatment of Mitochondrial Ophthalmic DiseasesDr. Umur KayabasiLifemed Health Center, Uskudar University,
Turkey

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This event will be held at Cineworld: The O2 Peninsula Square London SE10 0DX United Kingdom

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Abstract and Poster Presentations

All abstracts accepted for oral presentation are also automatically accepted for poster presentation

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