Bringing Familial Dysautonomia Specialists Together

Bringing Familial Dysautonomia Specialists Together

From congenital disorders to inherited metabolic diseases, The Rare Metabolic Disorders Event which took place 20th – 22nd September in London, created by FD Vice-chair Dr Shara Cohen, investigated recent developments in an informal academic setting, with an atmosphere conducive to debate and discussion. 

With a number of sessions over two days, many aspects of the metabolome were covered, bringing together those working in academia, medicine, biotechnology and pharmaceuticals.

The event was followed by dinner at the Royal Society of Medicine, of all invited speakers, to keep the conversation going, sponsored by FDUK.

Talks presented

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, InselspitalUniversity 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 1Dr Roshni VaraSt Thomas’ HospitalUnited 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 plcUnited 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 UniversityUnited 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

Leave a Reply

Your email address will not be published. Required fields are marked *