22nd Meeting of the Irish Society of Human Genetics OP01. The Genetic Landscape of Scotland and the Isles OP02. Interrogating and correcting fine‐scale genetic structure in large (>36,000 samples) GWAS datasets using scalable haplotype sharing methods OP03. Investigating the genetics of cognitive resilience in healthy ageing using the UK Biobank (n = 333,737) OP04. Genome-wide DNA methylation analysis for type 1 diabetes OP05. Development of OPA1 Gene Therapy for Dominant Optic Atrophy OP06. Who needs rare disease services in Ireland? Constructing a list of high-prevalence rare diseases for Ireland to inform service needs. OP07. Birth incidence and survival in an 11 year cohort of liveborn babies with a fatal foetal abnormality in the Republic of Ireland OP08. The Molecular Basis of Acute Porphyria and familial Porphyria Cutanea Tarda in the Republic of Ireland – an update OP09. European Reference Networks: potential for rare disease research and patient care in Ireland OP10. Mitochondrial Disease Mimics P01. Early retinal remodelling in a mouse model of juvenile retinal degeneration. P02. Detection of putatively pathogenic rare, inherited CNVs from family whole genome sequencing data P03. Improving the State of Polygenic Prediction: Are Neural Networks Applicable to Genetic Data P04. The role of common genetic variation in presumed monogenic forms of epilepsy P05. Investigating the role of microRNAs in the hypoxic response in prostate cancer P06. The ancient population genetics of Portugal P07. The Epilepsiome Project: revising the Human Phenotype Ontology for epilepsy and seizures P08. Modulation of a prodegenerative pathway as a potential therapy for retinal degeneration. P09. Identifying the Genetic Candidates of Previously Unresolved Inherited Retinopathies in Ireland. P10. Genes regulated by BCL11B during T-cell development are enriched for de novo mutations found in schizophrenia patients. P11. The biochemical characterisation of a novel missense variant in Fumarase Hydratase identified in an Irish patient with breast cancer P12. A randomized controlled trial of folic acid intervention in pregnancy highlights a putative methylation-regulated control element at ZFP57 P13. AAV-ophNdi1: a potential therapy for Leber Hereditary Optic Neuropathy (LHON). P14. Investigating DHFR2’s growing pool of RNA isoforms P15. CRISPR/Cas knock-out cell lines to give new insight on DHFR2 function and its interplay with DHFR P16. Retinoic Acid Receptor Specificity in Glioma Growth Suppression P17. Detecting pathogenic repeat expansions from genome sequence data P18. Genetic risk factors in mitochondrial DNA associated with diabetic kidney disease – GWAS discovery and meta-analysis. P19. Exploration of a tissue specific promoter for retinal ganglion cells P20. The Contribution of Second-hits in CNV Carriers to Putative Psychiatric Traits P21. Opposite expression patterns of Spry3 and p75NTR in cerebellar vermis suggest a male-specific mechanism of autism pathogenesis P22. A genomic exploration of population structure in the Ladakhi, a high-altitude Himalayan population P23. Towards estimating the incidence of rare diseases in a paediatric population, born in Ireland in the year 2000 P24. Next generation diagnostics in Irish polycystic kidney disease patients P25. A Large Deletion on Chromosome X Causes Choroideremia by Whole Gene Deletion of CHM in Irish Patients. P26. Epilepsy alone cohort and routine genetic testing – is it needed P27. To screen or not to screen; Three cases of RET duplication. P28. The Northern Ireland Cohort of Neurofibromatosis type 2 patients & clinical correlation of their Genetic Severity Score P29. The Collar Bone is connected to the Pancreas: a Cytogenetic Explanation P30. The Significance of Genetic screening in PKU adult cohort & the introduction of Sapropterin dihydrochloride P31. POT1: An emerging oncological phenotype P32. Schwannomatosis – the Northern Ireland Cohort P33. Dying to see you P34. Interventions to improve psychosocial well-being in female BRCA-mutation carriers following risk-reducing surgery: A Cochrane Systematic Review. P35. An Irish male with bilateral Fibular Aplasia Tibial Campomelia and Oligosyndactyly (FATCO) syndrome P36. Natural history of a fibrous cephalic plaque and sustained eight decade follow-up in an 80 year old with tuberous sclerosis complex type 2 P37. Genotype/phenotype landscape of adult Fabry disease in Republic of Ireland P38. ‘Long shadow of metabolic entropathies: a Tale of Two Extreme Case’ P39. Genetic Characterisation of two Copy Number Variants (CNVs) in the LDLR Gene causing Familial Hypercholesterolaemia P40. Characterisation of the pathogenic basis of an early-onset familial mucocutaneous ulcerative condition in Irish families P41. Hurdles to genetic research in Ireland; GDPR and Health Research Regulation in practice P42. Diagnostic Yield for genetic testing for Hypertrophic Cardiomyopathy in the Irish Population P43. A 3-year review of Huntington’s disease referrals to the Department of Clinical Genetics, CHI at Crumlin. P44. Survival Modelling Incorporating Genetic Profile: application to a TCGA dataset
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