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Genomic Medicine 2018 Edinburgh

April 18, 2018 - April 19, 2018

Genomic Medicine 2018 Edinburgh

Radisson Blu, 18th & 19th April


The 5th annual Genomic Medicine 2018 Edinburgh took place on 18th & 19th April at the Radisson Blu Hotel, Edinburgh.  This followed our series of NGS events as Next Generation Sequencing indeed still formed the backbone of this meeting with our strong focus on the use of NGS and related genomic technologies to look at human disease.
Thus we covered the latest updates and innovations in 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 year event 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

Speakers included Prof Tim Aitman (Edinburgh), Prof James Allan (Newcastle), Prof Darren Monckton (Glasgow), Prof Charlie Gourley (Edinburgh), Prof Caroline Hayward (Edinburgh), Dr Mandy Drake (Edinburgh) and many more.  Please click on the AGENDA tab to take a look at the full list of speakers and titles of their presentations.

NETWORKING: in addition to the excellent science, our unique forumla for this genomics meeting allowed delegates to interact with each other during networking events. These networking opportunities included:
– Introductory networking session on Day 1
– Panel debate
– Complimentary Drinks Reception at City Chambers hosted by the Lord Provost of Edinburgh
– Networking dinner on the evening of 18th April 2018 at the Printing Press restaurant.

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 Austin Diamond
11.00 – 11.30: Prof Tim Aitman, Centre for Genomic Experimental Medicine & IGMM, Uni of Edinburgh
The Scottish Genomes Partnership – progress and prospects
11.30 – 12.00: Prof Zofia Miedzybrodzka, The Institute of Medical Sciences, University of Aberdeen
Developing genetic testing in the NHS
12.00 – 12.30: TECHNOLOGY PRESENTATION by Gerald Martin, Sophia Genetics
Raising the bar in NGS diagnostics
12.30 – 13.30: Lunch, Exhibition, Networking
               CHAIR:      Dr Shona Kerr
13.30 – 14.00: Dr Rachel Butler MBE, Cardiff & Vale University Health Board
NGS used on Liquid Biopsies in the Clinic
14.00 – 14.30: Dr Sean Ennis, University College Dublin & Genomics Medicine Ireland
The Irish Genome Initiative
14.30 – 15.00: TECHNOLOGY PRESENTATION by Andrew Livingston, Roche Diagnostics
AVENIO:  Meeting the challenges of liquid biopsy
15.00 – 15.30: Coffee, Exhibition & Networking
15.30 – 16.00: Prof Caroline Hayward,MRC HGU & IGMM, University of Edinburgh
Generation Scotland: Scottish Family Health Study: Linkage to Electronic Health Records
16.00 – 16.30: Dr Deborah Morris-Rosendahl, Royal Brompton & Harefield NHS Foundation Trust
Clinical Genetics Diagnostics for Inherited Cardiovascular Disorders
16.30 – 17.00: Dr Paul Westwood, NHS Greater Glasgow and Clyde
New Platform for Variant Interpretation
17.00 – 17.45: PANEL DEBATE: “Would you sequence your genome and publish the data?”
Hosted by Ed Quazi
Panel: Professor Mary Porteous (Edinburgh), Nicola Williams (Glasgow), Dr Pippa Thomson (Edinburgh)
Prof Zofia Miedzybrodzka (Aberdeen), Dr Rachel Butler MBA (Cardiff)
19.30: NETWORKING DINNER (booking required) at Printing Press Bar & Kitchen


               CHAIR:      Dr Javier Santoyo-Lopez
09.00 – 09.30: Prof Terry Jones, NWCR Centre, University of Liverpool
Sample Collection, Consent and matching the samples
09.30 – 10.00: Prof Charlie Gourley, CR UK, Edinburgh Centre
Real time molecular characterisation of ovarian cancer – ready for the clinic or still a pipedream?
10.00 – 10.30: TECHNOLOGY PRESENTATION by Dr Alex Hastie, Bionano Genomics
Chromosome Arm Scale De Novo Genome Assemblies Better Detect and Resolve Structural Variation
and Chromosomal Abnormalities Related to and Causing Genetic Disease and Cancer

10.30 – 11.00: Coffee, Exhibition & Networking
11.00 – 11.30: Prof Constanze Bonifer, University of Birmingham
Aberrant chromatin programming in Acute Myeloid Leukemia
11.30 – 12.00: Prof Geoff Barton, University of Dundee
Population variation in humans and its relationship to gene function and disease
12.00 – 12.30: TECHNOLOGY PRESENTATION by Dr Dan Ellis, Qiagen
Qiagen: Next Generation Sequencing Solutions
12.30 – 13.30: Lunch, Exhibition & Networking
               CHAIR:      Dr Lee Murphy
13.30 – 14.00: Prof Martin Taylor, IGMM, University of Edinburgh
Disentangling and quantifying mutational processes
14.00 – 14.30: Prof Darren Monckton, University of Glasgow
Sequencing the unsequenceable: unstable repeats in myotonic dystrophy and related disorders
14.30 – 15.00: Prof James Allan, NICR, University of Newcastle
The application of genomics to prognostication in cancer
15.00 – 15.30: Coffee, Exhibition & Networking
15.30 – 16.00: Dr Mandy Drake, The Queen’s Medical Research Institute and Child Life and Health, University of Edinburgh
Deciphering the role of DNA methylation in obesity and diabetes
16.00 – 16.15: Short Talk & Poster presentation
Dr Dalal Al-Mutairi, Department of Pathology, Kuwait University, Kuwait
Identification of a novel founder mutation in RSPH9 shard between multiple Arab tribes in
Kuwaiti population causing PCD in Kuwait 
16.15 – 16.30: Short Talk & Poster presentation
Alexander Collings, Wolfson Wohl Cancer Research Centre, Glasgow
Cell-free DNA: Developing a leukaemic biomarker to enable personalised CNS-directed therapy




SOPHiA GENETICS is a health tech company which has developed SOPHiA Artificial Intelligence, the universal and innovative technology for clinical genomics. By facilitating the rapid adoption of genomic testing worldwide, turning data into actionable clinical insights and facilitating knowledge sharing, we are democratizing Data-Driven Medicine to help save patients’ lives around the world.



Headquartered in Pleasanton, California, the Roche Sequencing Unit is focused on developing novel sequencing technologies and products to support innovation in clinical research applications. Our goal is to develop assays for sequencing, and refine sequencing techniques to advance sequencing technologies that will deliver truly differentiated clinical value.



Bionano Genomics, Inc. offers whole genome analysis tools to better understand the genome and its structure. Its high-throughput system Saphyr builds de novo maps of the genome by massively parallel imaging of the longest single DNA molecules in the industry. Bionano genome mapping provides comprehensive structural variation (SV) calls, identifying all types of SVs with sensitivities that far exceed those based on next-generation sequencing. When combined with orthogonal sequencing data, Bionano maps can provide the correct structure, order, and orientation to assemble reference-quality genomes.


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.


With over 3,500 products in 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.
Promega products are used by scientists asking fundamental questions about biological processes and applying scientific knowledge to diagnose and treat diseases, discover new therapeutics, and use genetics and DNA testing for human identification.
Promega core strengths and developing technologies include:

  • Molecular Biology Products for Cloning, Expression and Amplification
  • Manual and Automated Nucleic Acid Purification Platforms
  • Next Gen Sequencing Clean Up and Quality Control kits
  • Cell-Based Assays for Measuring Viability, Apoptosis, Metabolism & Epigenetics
  • Novel Techniques for Protein-Protein Interaction and Protein Degradation Analysis
  • New tools for Endogenous Protein Tagging using CRISPR
  • Functional Bioassays for Immune Checkpoint, Fc Effector, Cytokine and T Cell Activation Pathways



Covaris is the recognized industry leader for DNA fragmentation.  Adaptive Focused Acoustics® (AFA™) is the gold standard for shearing DNA and RNA in Next-Generation Sequencing applications, without GC bias or thermal-induced damage. The Covaris AFA process is extensively cited in peer-reviewed research articles on DNA fragmentation using all available NGS systems. Covaris Focused-ultrasonicators are recommended by all major sequencing platform providers, and are used by leading Genome Centers worldwide including: the Wellcome Trust Sanger Institute, the Broad Institute, and BGI. For more information, please visit: www.covaris.com.


Eppendorf is a leading life science company that develops, manufactures and distributes instruments, consumables and services for liquid, sample and cell handling in laboratories worldwide.
With a broad range of high quality, smart consumables as well as precise and accurate instrumentation, Eppendorf products provide reliable and effective solutions.
Next-generation sequencing (NGS) requires optimal, thorough sample preparation upstream of the sequencing process to ensure the best possible results. The NGS workflow is covered by Eppendorf, from culturing cells in our new Innova® S44i incubated biological shaker, library construction using our epMotion® range of automated pipetting systems, to final storage of your samples in our ultra-low temperature (ULT) freezers. Our comprehensive solutions are engineered with smart innovations to simplify or even eliminate cumbersome lab work.
Our epMotion range of automated pipetting systems can be used for sample preparation and purification through to library construction, amplification and final analysis. Consequently, all routine pipetting tasks, whether small or large, will be automated with more accuracy and reproducibility, thereby allowing you more time for your research.
Eppendorf Product Specialists will be on hand to answer any questions, provide demonstrations and discuss ways in which our products can assist you in your laboratory work.”


Advanced Analytical Technologies Inc. (AATI) develops, manufactures and markets high-throughput, fully-automated nucleic acid and genetic analysis systems. The company’s products have both commercial and research applications and are designed to improve processes within the molecular diagnostics, pharmaceutical, life science, agricultural and biofuels industries. The company’s product portfolio includes instruments for the parallel analysis of biomolecules, DNA, RNA, genomic DNA, double-stranded DNA, gene editing (CRISPR/Cas9), pharmaceutical compounds and proteins using capillary electrophoresis (CE) with fluorescence detection or UV absorbance. The company’s flagship product, the Fragment Analyzer, is recognized as the best-in-class, multi-channel, automated fluorescence-based CE detection system for the simultaneous analysis of the quantity and quality of nucleic acids, including: dsDNA fragments, gDNA, NGS fragments and RNA (total and messenger) and microsatellites (SSR). Advanced Analytical Technologies, Inc. (AATI) simplifies complex genomics workflows to accelerate research and discovery in pharmaceuticals, life science, biofuels, biotechnology and healthcare. The company has facilities in Ames, Iowa, USA and Heidelberg, Germany. We support customers through a global network of distributors and support centers.


Fluidigm is committed to empowering laboratories to efficiently scale genomic workflows and meet the increasing demands of molecular testing. Using industry-proven core microfluidic technology, we provide automated, cost-effective and easy-to-use workflows for high-throughput next-generation sequencing library preparation and qPCR. With the flexibility to add new markers over time, you can confidently meet the needs of your laboratory both today and in the future. Engage with us at fluidigm.com


Agilent is a leader in life sciences, diagnostics and applied chemical markets. The company provides laboratories worldwide with instruments, services, consumables, applications and expertise, enabling customers to gain the insights they seek. Agilent’s expertise and trusted collaboration give them the highest confidence in our solutions.
Agilent focuses its expertise on six key markets that involve Food, Environmental & Forensics, Diagnostics, Pharmaceutical, Chemical, Energy and Research, where we help our customers achieve their goals.
From the Diagnostics and Research part, Agilent gives doctors a head start in the fight against cancer and other diseases. Our solutions help pathology laboratories deliver fast, accurate information to the doctors, hospitals and medical centers they serve. We help medical professionals make more accurate diagnoses so patients can receive the most effective therapies.
Most life sciences and diagnostics research is done at top-tier universities, with funding from governments around the world. Agilent is helping these researchers learn more about cancer, cardiovascular diseases, diabetes, Alzheimer’s, Parkinson’s, autism and other ailments. Our instruments, software and sample preparation solutions help scientists conduct faster, more accurate research. Read about the Agilent products and solutions that serve these markets.
Discuss your laboratory needs with an Agilent expert.


Transforming genetic data into medical decisions. We are the worldwide leader in the field of early genetic diagnostics for rare hereditary diseases. A database of genetic data from over 110 countries gives us a unique access to epidemiological, clinical and genetic information on hereditary disorders, including oncogenetic indications. We focus exclusively on providing the highest quality, patient-centred service, verified by multiple international accreditations (ISO, CAP, CLIA), regular pharmaceutical audits and our outstanding short turn-around times for analysis. Our medical expertise is based on cutting-edge technologies including whole exome/genome sequencing, innovative biomarkers and continued R&D. Our mutation database (CentoMD®) is the world’s largest for rare genetic diseases and is pivotal to our high-quality diagnostic reporting and comprehensive medical interpretation. CENTOGENE is a key partner for many high-profile pharmaceutical companies who are active in the orphan drug development.


Diagenode is a leading global provider of complete solutions for epigenetics research, biological sample preparation, and diagnostics assays based in Liege, Belgium and NJ, USA. The company has developed a comprehensive approach to gain new insights into epigenetics studies. The company offers innovative Bioruptor® shearing and IP-Star® automation instruments, reagent kits, and high quality antibodies to streamline DNA methylation, ChIP, and ChIP-seq workflows. The company’s latest innovations include a unique, full automation system, the industry’s most validated antibodies, the Megaruptor shearing system for long fragment generation in sequencing, and epigenetics assay services.
At Diagenode, our goal is to build products with pride and the highest level of performance. Our team of epigenetics experts develop products by getting feedback from our customers as well as the scientific and medical communities around us. We strive to develop superior and easy-to-use products to bring epigenetics research and diagnostics to new frontiers.


Genome Diagnostics Nijmegen is an ISO 15189:2012 certified laboratory, which provides high quality and up to date diagnostics of genetic disorders for patients and their families. A full diagnostic interpretation of clinically relevant variants is offered. The laboratory has over 130 coworkers and performs >29.000 tests and >6000 diagnostic exomes each year. Genome Diagnostics Nijmegen is part of the Department of Human Genetics of the Radboud University Medical Center and is based in the Netherlands.


At Twist Bioscience, we work in service of customers who are changing the world for the better. In fields such as medicine, agriculture, industrial chemicals and data storage, by using our synthetic DNA tools, our customers are developing ways to better lives and improve the sustainability of the planet. The faster our customers succeed, the better for all of us, and Twist Bioscience is uniquely positioned to help accelerate their efforts.
Our innovative silicon-based DNA Synthesis Platform provides precision at a scale that is otherwise unavailable to our customers. Our platform technologies overcome inefficiencies and enable cost-effective, rapid, precise, high-throughput synthesis and sequencing, providing both the quality and quantity of the tools they need to rapidly realize the opportunity ahead. For more information about our products and services, please visit www.twistbioscience.com. Twist Bioscience is on Twitter. Sign up to follow our Twitter feed @TwistBioscience









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’s 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
2018 Edinburgh

18th & 19th April

Radisson Blu, Edinburgh



Edinburgh Genomics





Gold Sponsor

Sophia Genetics




Exhibitors & Sponsors

Sophia Genetics














Media Partners


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