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Rare Metabolic Disorders: 20th – 22nd September 2016


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 This conference will discuss rare metabolic disorders, their detection, current research, disease management and treatment.

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.


  • 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,

CPD Credits



Email:? enquiries [@]

Phone:?(+44) 020 3807 3712

Venue, Accommodation and Travel Details

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

Once inside the O2 building please make your way to Cineworld.  A map of the O2 can be found by clicking here

For more detailed travel information click here

For accommodation suggestions click here

Abstract and Poster Presentations

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


Payment Instructions

Payment must be received prior to the meeting

Credit card
You can pay during your online registration using your credit card. Using this mode of payment you can guarantee that your fee has reached us prior to the conference and you will be listed as registered

You can either use your Paypal account or click on the no account link to pay directly by credit or debit card

The information taken will be by secure server.

We do not store credit card details nor do we share customer details with any 3rd parties

If you wish to pay by?cheque, purchase order?or?bank transfer, please contact bilal.ahmad [@]

Cancellation Policy

This will be a paperless meeting

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Please print out the agenda before you come or download the pdf onto your computer or smartphone. ?
Pdfs of our agendas and abstract books can be found at?

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