Precision Medicine Day Three


Precision 2018 Day 3

Registration opens

Beyond the genome

Precision Medicine - Other Therapeutic Areas

Beyond the Genome

Chair's opening remarks

Precision Medicine - Other Therapeutic Areas

Chair's opening remarks

Precision Medicine - Other Therapeutic Areas

Application of precision medicine and genomics to common disease

  • How AstraZeneca are applying genomics to identify new drug targets for common disease
  • The development of complimentary diagnostics to enable precision medicine
  • Future opportunities – collaboration and partnership
Beyond the Genome

Synthetic life to human longevity

Reserved for supporting partner
Please contact Erica Baeta (+44 (0)207 092 1152, or Derek Cavanagh (+44 (0)207 092 1297, for further details
Beyond the Genome

Development of an integrated platform for biomarker and drug target discovery using proteomics

  • The use of innovations in MS-based technologies offers a high capacity throughput proteomic profiling for clinical biochemistry purposes that can be industrialised, as has been achieved at the Stoller Biomarker Discovery Centre
  • Markers of risk in ovarian cancer have been investigated using a SWATH MS approach. We have also identified potential new curative strategies for chronic myeloid leukaemia and polycythaemia vera
  • Combined with validation platforms, this approach offers a quicker route to mechanistic detail/drug targets plus biomarkers for risk and stratification. Linkage of proteomic data to electronic health records through safe haven health informatics allows the integration of complex molecular phenotyping with endotypic data
  • Reduction in time for biomarker development for patient benefit
Precision Medicine - Other Therapeutic Areas

Development of Nusinersen: first and only treatment for spinal muscular atrophy (SMA)

  • Biology of SMA is due to deficiency in SMN protein production due to deletion or mutation in the SMN1 gene
  • Mechanism of action of nusinersen is to increase SMN protein production by modifying splicing of pre-mRNA from the SMN2 gene
  • Pivotal studies in infants and children with symptomatic SMA demonstrated benefit of treatment necessary for regulatory approval
  • Study in presymptomatic infants demonstrated benefit of treatment once patients diagnosed by newborn screening
Beyond the Genome

A gut feeling: using microbiome manipulation to treat allergic asthma

  • Understanding the human microbiome from a system perspective
  • Leveraging clinical data to establish human-first rationale for patient stratification and drug development
  • Utilizing a rationally designed microbial consortia for the treatment and prevention of allergic asthma
Precision Medicine - Other Therapeutic Areas

MRC Molecular Pathology Nodes – Progress in routes to adoption into the NHS of molecular biomarkers

  • Molecular biomarkers
  • Molecular biomarker platforms
  • Adoption into NHS
  • NICE

10:40 Networking Break

Precision Medicine - Other Therapeutic Areas

Induced pluripotent stem cells as a workhorse for human genetic studies

  • Learn how human iPS cells are transforming the study of disease alleles
  • What are the opportunities and challenges in using iPSCs as disease models?
  • Introduction to the Human Induced Pluripotent Stem Cells Initiative (HipSci)
Precision Medicine - Other Therapeutic Areas

Precision cardiovascular medicine

  • Challenges for cardiovascular precision medicine
  • Omics and digital health for cardiovascular medicine
  • Delivering precision cardiovascular medicine globally
Beyond the Genome

Probing disease mechanisms in ion-channel epilepsy using iPSCs, reprogramming and optogenetic approaches to provide personalized therapeutic approaches

  • The lack of easy accessibility to the cells of the nervous system has hampered progress towards the discovery of degenerative mechanisms as well as more effective treatments for neurological diseases
  • The ground-breaking technology of reprogramming, which allows for the generation of patient specific induced pluripotent stem cells (iPSCs) has created an unprecedented opportunity for a new approach towards developing cellular models of human disease
  • We employ this approach to generate cortical excitatory and inhibitory neurons as well as spinal motor neurons and astrocytes from individual patients
  • We use gene-editing techniques to introduce or fix mutations and then study the neurons we make by classical methods including immunocytochemistry, biochemistry, global genomic analysis, live cell imaging as well as by non-invasive electrophysiological recording techniques

Precision medicine in healthcare

Beyond the Genome

Cardiovascular pharmacology- Stratifying patients to improve efficacy and prevent toxicity of cardiovascular drugs

  • Anticoagulant and lipid lowering drugs will be discussed
  • Direct oral anticoagulants vs warfarin, efficacy and toxicity
  • Uptake of personalised therapies by healthcare systems
  • Health inequality and personalised medicine
Healthcare Track

What does good care feel like? A patient's perspective

  • What do we mean by precision medicine? 
  • Expectations, fears and hope
  • Precision - in care, treatment and communication
Beyond the Genome

Precision medicine in severe asthma and its comorbidities: new kids on the block

  • Overview of the clinical problems: severe asthma and other severe "allergic" diseases (chronic spontaneous urticaria, nasal polyposis, atopic dermatitis);
  • New insights on endotypes and phenotypes of severe asthma and its comorbidities
  • From endotype to phenotypes, and back
  • Novel biological therapies and the need of predictive biomarkers (with novel personal and literature data)
Healthcare Track

Actionable genes

  • The payer perspective of the genetic testing market
  • What our customers want
  • Actionable and tiering of genes
  • Commissioning of genetic tests

13:00 Networking Lunch

Closing keynotes: The future of precision medicine

Thomas Hach

Precision medicine: how far and how fast can we go?

  • Current use of precision medicine in clinical practice and pharma R&D
  • Therapeutic area perspective: oncology and beyond
  • Future opportunities: cross-functional collaboration
Everson Nogoceke

Biomarker and experimental medicine leader

  • The prospects of Pharmacogenetics in common ophthalmic diseases
  • From Genetics and genomics to target validation in humans
  • The prospects of biomarkers based on imaging
Karina Bienfait

Precision medicine in drug development: Leveraging genetic data to inform pipeline decisions

  • Discuss implementation of routine genomic research during drug development
  • Leveraging genomic data to achieve precision medicine
  • Discuss challenges in conducting genomic research in the context of global clinical trials

Chair's closing remarks


Closing remarks from Terrapinn

15:20 End of Day 3

last published: 23/Mar/18 16:35 GMT




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World Precision Medicine Congress


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