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Genomic Medicine 2019 Edinburgh

May 15, 2019 - May 16, 2019

Genomic Medicine 2019 Edinburgh

Radisson Blu, 15th & 16th May 2019

The 6th annual Genomic Medicine 2019 Edinburgh conference took place on 15th & 16th May 2019 at the Radisson Blu Hotel in Edinburgh.  As usual we focussed on high throughput genomic technologies with a special focus on Next Generation Sequencing in the research and clinical analysis of human disease.
We did cover NGS technologies and applications, national genome projects, use of health records, rare diseases & cancer and many more areas which you can check by clicking on the agenda tab.

This conference was organized in partnership with:

  • South East Scotland Genetic Service
  • Edinburgh Genomics
  • Edinburgh Clinical Research Facility
  • MRC Human Genetics Unit (University of Edinburgh)
  • Glasgow Polyomics (University of Glasgow)
  • NHS West of Scotland Genetics Service
  • NHS Grampian

The photo on the left shows some of our speakers from last year conference during the drinks reception that was hosted by the Lord Provost of Edinburgh.  The Lord Provost hosted again this year speakers and delegates over a drinks reception sponsored by Congenica for all conference registrants.
Current speakers for the 2019 meeting included Prof Chris Ponting (Edinburgh), Dr Alan Walker (Aberdeen), Angela Douglas MBE (Liverpool), Dr Gianpiero Cavalleri (Dublin), Prof Heather Cordell (Newcastle), Dr Darren Plant (Manchester), Prof Albert Tenesa (Edinburgh) and other speakers as you can view in the Agenda tab.

NETWORKING: in addition to the excellent science, our unique formula for all of our genomics meeting allowed delegates to interact with each other during networking events. These networking opportunities included:
– Introductory networking session on Day 1
– Debate
– Complimentary Drinks Reception at City Chambers hosted by the Lord Provost of Edinburgh
– Networking dinner on the evening of 15th May 2019 at Cafe Andaluz in the old town.

Who attended this event:

  • NGS users, researchers and students
  • Bioinformaticians
  • NHS & Private Labs, Biotech Companies, CRO’s, Service Providers

…and others interested in the latest developments of:

  • Next Generation Sequencing
  • Bioinformatics
  • Biomarkers
  • Computational Biology
  • Data Analysis
  • Data interpretation
  • DNA Sequencing
  • Genetics/Genomics
  • Infectious and Inherited Diseases
  • NGS Data Storage
  • Informatics
  • Molecular and Cell Biology
  • Molecular Diagnostics


DAY 1 

09.00 – 10.30: Registration, Coffee & Networking
10.30 – 11.00: Dr Ed Quazi – Introduction, Networking and Collaborations Workshop
                 CHAIR:      Dr Liz Worthey
11.00 – 11.30: Prof Chris Ponting, Medical Genomics, MRC-HGU, University of Edinburgh
Explaining Complex Disease: one factor & one DNA variant at a time
11.30 – 12.00: Prof Andrew Biankin, Wolfson Wohl Cancer Research Centre, Glasgow
Precision Oncology – from clinical trials to artificial intelligence
12.00 – 12.30: TECHNOLOGY PRESENTATION by Dr Tim Bonnert, QIAGEN
12.30 – 13.30: Lunch, Exhibition, Networking
                 CHAIR:      Dr Austin Diamond
13.30 – 14.00: Angela Douglas MBE, Deputy Chief Scientific Officer, NHS England
The Future of Genomics in the NHS
14.00 – 14.30: Dr Gisela Orozco, Faculty of Biology, Medicine & Health, The University of Manchester
Functional genomics approaches for understanding the genetics of complex autoimmune diseases
14.30 – 15.00: Prof Ewan Pearson, Ninewells Hospital and Medical School & University of Dundee
Genetics, Diabetes and Precision Medicine
15.00 – 15.30: TECHNOLOGY PRESENTATION by Sophia Genetics
Hereditary cancer solution including CNV detection by SOPHiA GENETICS
15.30 – 16.00: Coffee, Exhibition & Networking
                 CHAIR:      Dr Shona Kerr
16.00 – 16.30: Dr Alan Walker, University of Aberdeen
Genomic analysis of intestinal microbes and their relations to human health
16.30 – 17.00: Prof Heather Cordell, Institute of Genetic Medicine, Newcastle University
Genetic, transcriptomic and proteomic analyses in PBC
17.00 – 17.30: Dr Rebecca Holmes & Craig Thomson, LifeArc
LifeArc: turning your discoveries into Diagnostics
17.30 – 18.15:

Audience Responses/Voting – Anonymous responses from you on Genomic Issues. 
Do you have Genomic related issues and are you wondering how others are approaching them? Do you want to ask anonymous genomic questions to the rest of the delegates? This is a session that allows you to ask questions and get feedback from other delegates. You can do this anonymously or debate it openly.

19.30: NETWORKING DINNER (booking required) at Local Restaurant


                 CHAIR:      Dr Javier Santoyo-Lopez
09.00 – 09.30: Dr Darren Plant, University of Manchester
Prediction of treatment response in rheumatoid arthritis using genetic and genomic biomarkers
09.30 – 10.00: Dr Gianpiero Cavalleri, Royal College of Surgeons, Dublin
Genetic ancestry and structure of Scotland and its surrounding islands
10.00 – 10.30: TECHNOLOGY PRESENTATION by Dr Peter Verhasselt of Integrated DNA Technologies
Improved NGS tools for targeted sequencing and low frequency variant detection
10.30 – 11.00: Coffee, Exhibition & Networking
11.00 – 11.15: TECHNOLOGY PRESENTATION by Dr Suzanne Drury, Congenica
Exome Sequencing for the Diagnosis of Fetal Anomalies
11.15 – 11.45: Dr Hywel Williams, School of Medicine, Cardiff University
Analysis of Constrained Coding Regions to improve diagnostic rate in 100,000 Genomes Project Rare Disease Cohort
11.45 – 12.15: Dr Kenneth Baillie, The Roslin Institute, University of Edinburgh
Using genomics to distinguish maladaptive processes in critical illness
12.15 – 12.45: TECHNOLOGY PRESENTATION by Dr Jon Rock, Lexogen
The potential of 3’ RNA sequencing to contribute to the future of medicine or diagnostics
12.45 – 13.45: Lunch, Exhibition & Networking
                 CHAIR:      Dr Lee Murphy
13.45 – 14.15: Dr Susanna Cooke, Wolfson Wohl Cancer Research Centre, Glasgow
Bioinformatics for Clinical Cancer Genomics
14.15 – 14.45: Prof Jonathan Fallowfield, University of Edinburgh
SteatoSITE: An integrated gene-to-patient data commons for NAFLD research
14.45 – 15.15: Coffee, Exhibition & Networking
15.15 – 15.45: Prof Albert Tenesa, University of Edinburgh
An atlas of genetic associations in UK Biobank
15.45 – 16.15: Silvia Borras, Medical Genetics, NHS Grampian, Aberdeen
Primary Immune Deficiency service and its application for clinical exome testing
16.15 – 16.45 Prof Liz Worthey, The University of Alabama Birmingham School of Medicine, USA
The NIH rare disease Undiagnosed Diseases Network; lessons learnt and challenges faced in the first four years
16.45 – 17.00 Closing Remarks, Best Poster Award & Prize Draw



QIAGEN is the leading global provider of Sample to Insight solutions to transform biological materials into valuable molecular insights. QIAGEN sample technologies isolate and process DNA, RNA and proteins from blood, tissue and other materials. Assay technologies make these biomolecules visible and ready for analysis. Bioinformatics software and knowledge bases interpret data to report relevant, actionable insights. Automation solutions tie these together in seamless and cost-effective molecular testing workflows. QIAGEN provides these workflows to more than 500,000 customers around the world in Molecular Diagnostics (human healthcare), Applied Testing (forensics, veterinary testing and food safety), Pharma (pharmaceutical and biotechnology companies) and Academia (life sciences research).
Our top-quality assays and panels enable you to accurately analyze and identify diseases and genetic variations. Our bioinformatics software and curated knowledge bases transform your raw data into relevant, actionable findings. And our automation solutions provide you seamless and cost-effective workflows. Sample to Insight.  Further information can be found at www.qiagen.com.


SOPHiA GENETICS helps healthcare professionals leverage their expertise and work together as a community, patients all over the world can receive equal access to better diagnoses and treatments. Combining the first two pillars of Data-Driven Medicine, Genomics and Radiomics, we can ensure that the data used to help patients today will also benefit the patients of tomorrow.


Integrated DNA Technologies, Inc. (IDT) develops, manufactures, and markets nucleic acid products that support the life sciences industry in the areas of academic and commercial research, agriculture, medical diagnostics, and pharmaceutical development. We have a global reach with personalized customer service.
IDT is recognized widely as the industry leader in the manufacture of custom oligonucleotides for molecular biology applications. We have developed proprietary technologies for genomics applications, such as Next Generation Sequencing, CRISPR genome editing, qPCR, and RNA interference. Through our GMP services, we manufacture products used in diagnostic tests for many forms of cancer and most inherited and infectious diseases.
We maintain our leadership position through a commitment to the highest standards of quality, service, and technical expertise, which allows us to adapt to the evolving needs of genomic science. We are continually improving IDT synthesis platforms, processing technology, automation, as well as our rapid prototyping and custom part production.
IDT serves our customers through direct sales in many countries and a network of distributors worldwide. Our corporate headquarters are located in Coralville, Iowa, USA. Production sites are located in Coralville, Iowa, and San Diego, California, USA; Leuven, Belgium; and Singapore.


Lexogen is a transcriptomics and Next Generation Sequencing company, focusing on the development of technologies for complete transcriptome sequencing and providing services. The portfolio includes kits for Whole Transcriptome, Expression Profiling, and Small RNA sequencing library preparation, Full-Length cDNA amplification, RNA extraction, ribosomal RNA depletion, poly(A) RNA selection, spike-in RNA variant control mixes, Metabolic RNA labeling, and data analysis software. Lexogen is based in Austria and has subsidiary in the US.


LifeArc transforms great science into greater patient benefit.  We are the medical research charity with a 25-year legacy of helping scientists and organisations turn their research into practical treatments and diagnostics. We bring together a network of partners to tackle specific diseases and to directly fund academic and early stage research.  So far our work has helped to develop four marketed drugs (Keytruda®, Actemra®, Tysabri®, and Entyvio®).  www.lifearc.org Twitter @lifearc1


Fios Genomics provide a wide range of bioinformatics analysis services to pharmaceutical and biotechnological companies, CROs and academia, supporting drug discovery and development and applied research across all species.
Using the best in class tools and methods, Fios provide a functional and interactive reporting architecture, allowing scientists to fully explore their data. We can analyse ‘omics data in combination with other outputs from experiments or trials such as imaging data and clinical information. This helps to build up the data picture while ensuring that a robust analysis is delivered.
Our team is a combined resource of in-house bioinformaticians, statisticians and biologists working together to analyse and interpret high-volume, high-dimension data including those generated with:
–  next generation sequencing,
–  microarrays,
–  proteomic, metabolomic & lipidomic platforms.
A spin out of the University of Edinburgh, Fios Genomics use a number of network databases and tools to ensure that each work flow is bespoke and fits the data type.


Takara Bio Europe is a wholly owned subsidiary of Takara Bio Inc., who develops, manufactures, and distributes a wide range of life science reagents under the Takara™, Clontech®, and Cellartis® brands.
Key products include SMART cDNA synthesis kits for a variety of samples and applications, including NGS, high-performance qPCR and PCR reagents (including the Takara Ex Taq®, Takara LA Taq®, Titanium®, and Advantage® enzymes), Cellartis stem cells and stem cell reagents, RT enzymes and SMART library construction kits, the innovative In-Fusion® cloning system, Guide-it gene editing tools, Tet-based inducible gene expression systems, and Living Colors® fluorescent proteins.
Recently, Takara Bio acquired Rubicon Genomics and WaferGen Bio-systems. As part of the Takara Bio family, they expand our NGS portfolio as well as add R&D, manufacturing, and support for automation systems for NGS and qPCR applications. Takara Bio’s portfolio supports applications including NGS, gene discovery, regulation, and function studies, as well as genetic analysis, protein expression and purification, gene editing, stem cell studies, and plant and food research. For more information, visit takarabio.com.


With a portfolio of more than 3,500 products covering the fields of genomics, protein analysis and expression, cellular analysis, drug discovery and genetic identity, Promega is a global leader in providing innovative solutions and technical support to life scientists in academic, industrial and government settings.
Promega products are used by life scientists who are asking fundamental questions about biological processes as well as by scientists who are applying scientific knowledge to diagnose and treat diseases, discover new therapeutics, and use genetics and DNA testing for human identification.
Promega holds significant intellectual property rights and licenses in several key areas that form a foundation for its diverse portfolio including:
–  Bioluminescence, including engineered luciferases, luciferase reporter vectors and luciferase substrates
–  Short tandem repeat (STR) detection for STR-based cell line authentication, human identification, cell and tissue characterisation, and mixed sample detection
–  HaloTag® protein labelling and capture technology
Promega supports customers through providing the highest quality products, the best possible customer service, unsurpassed technical support, and many tools and resources for scientists are available online and on several mobile platforms.
Please visit our website: www.promega.com


At Twist Bioscience, we work in service of people who are changing the world for the better. In fields such as medicine, agriculture, industrial chemicals and data storage, our unique silicon-based DNA Synthesis Platform provides precision at a scale that is otherwise unavailable to our customers.  
Visit the website to learn more about how Twist’s DNA Synthesis Platform can enable you.


Congenica is the provider of the diagnostic decision support platform, Sapientia, and associated clinical services, which enable clinicians to interrogate the human genome to identify disease-causing variants.
80% of rare diseases are thought to have a genetic component, and patients wait an average of 4.7 years, and typically see 7.4 different clinical specialists, before getting a diagnosis. Sapientia enables clinicians to progress through workflows more quickly, optimizing throughput of patients, number of patients diagnosed and reducing costs.
Headquartered in Cambridge, UK, and with a footprint in the US and China, Congenica is born out of pioneering research from the Wellcome Trust Sanger Institute and the NHS. Congenica is a partner for the pivotal Genomics England 100,000 Genomes Project.




The Radisson Blu Hotel

TEL:   +44 (  



By air

This enviable city centre location lies just 13 kilometres from Edinburgh Airport (EDI) which is easily accessible thanks to regular Airlink buses and Edinburgh tram system which take passengers to and from the city centre in approximately 30 minutes. A taxi is likely to take 20 – 25 minutes depending on traffic.

By train

The Radisson Blu Hotel, Edinburgh is within easy walking distance of the city’s central railway hub, Waverley Station. Waverley is the main route into the city, and is serviced by trains from England’s west coast line coming up from Birmingham and the Lake District, as well as England’s east coast line that originates in London and calls at York and Newcastle. Direct trains from London’s Kings Cross now reach Edinburgh Waverley in less than four and a half hours. There are regular services coming south too from Inverness and Aberdeen, plus a shuttle service that runs to and from Glasgow, Scotland’s other major city, every 15 minutes. Direct trains from Edinburgh Waverley to the centre of Glasgow take just 50 minutes.

By bus

St Andrew’s Square Bus Station, the main bus route into the city is just a short walk away, on the other side of Waverley Station and Princes Street.

By car

Main roads into the city centre lead towards Princes Street just two minutes away from the hotel. Approaching from the south east Follow the A1 into the city centre towards Princes Street, then turn southwards onto North Bridge and the hotel is just left at the High Street. Approaching from the west From the M8, take the city bypass north for one junction, then turn right onto Glasgow Road. After Haymarket Station, follow the B700 towards the Grassmarket, Cowgate and turn north up Blackfriars Street where you can find hotel parking. Approaching from the south west Turn off the M6 onto the A702 and follow this route until you reach Princes Street. The one-way system takes you north to Queen Street along to the roundabout at John Lewis and up Leith Street. Continue southwards, over the North Bridge, and the hotel is just to the left at the High Street. Approaching from the north Coming over the Forth Road Bridge, follow Queensferry Road (the A90) into the city centre. Cut through Randolph Crescent to Queen Street, then along to the John Lewis roundabout and up Leith Street as above.

Parking in Edinburgh

The Radisson Blu hotel has car parking space for 131 vehicles, available on a first come, first served basis.  This is accessible via Blackfriars street.  Hourly rates from £5 per 2 hrs apply unless you are staying overnight and in that case the reduced rate is £12.50 a day.  The car park entrance is on Blackfriars Street.  When approaching the hotel southwards from Princes Street, turn left from North Bridge and continue to the first set of traffic lights. Turn right down St Mary’s Street, then take your first right at the traffic lights onto the Cowgate, and then right up Blackfriars Street. Alternatively, there is an NCP car park on 2 Viewcraig Gardens, Edinburgh EH8 9UL (NCP Car Park Edinburgh Holyrood Road).  The cost is £20 per day.

Genomic Medicine
2019 Edinburgh

15th & 16th May

Radisson Blu, Edinburgh



Edinburgh Genomics






Gold Sponsor





Silver Sponsor


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May 15, 2019
May 16, 2019

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