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Genomic Medicine 2018 Edinburgh

April 18 - April 19

Genomic Medicine 2018 Edinburgh

Radisson Blu, 18th & 19th April

The next, 5th annual Genomic Medicine 2018 Edinbugh conference on 18th & 19th April at the Radisson Blu Hotel, Edinburgh has gone through a few changes – firstly it’s moved from Glasgow to Edinburgh due to the fact that a number of our University and Hospital partners are from Edinburgh so it seemed like a fair and natural move for this year’s meeting.  Secondly, there has been a name change – so whilst you don’t see “NGS” or Next Generation Sequencing in the title, it will still form the backbone of these meetings – however, our strong focus on the use of NGS and related genomic technologies to look at human disease meant that this name change was also a natural step.
Thus we hope to cover 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.

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)

Speakers include 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 will allow delegates to interact with each other during networking events. These networking opportunities will include:

– 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.

ACADEMIC POSTER SUBMISSIONS: We welcome academic poster presentation at our events. If you have some material to present, please send us an abstract by 31st March. This will be reviewed by our scientific committee and if approved you will receive a 15% discount off the conference registration fee.

If you would like to submit a poster, please send us an abstract using our CONTACT US FORM
Please submit your poster before registering for the conference as retrospective discount will not be possible.

Who should attend the 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: Ed Quazi – Networking and Collaborations Workshop
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 Sophia Genetics
Title of Presentation
12.30 – 13.30: Lunch, Exhibition, Networking
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
Irish Genome Initiative

14.30 – 15.00: TECHNOLOGY PRESENTATION by Roche
Title of talk
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: Topical issues and Bottlenecks
19.30: NETWORKING DINNER (booking required) at Printing Press Bar & Kitchen


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 Bionano Genomics
Title of talk
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 Qiagen
Title of talk
12.30 – 13.30: Lunch, Exhibition & Networking
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

The registration fees below include:

  • Full access to the conference
  • Delegate bag
  • Coffee, Refreshments and Lunch on both days
  • Complimentary Drinks Reception at City Chambers hosted by the Lord Provost of Edinburgh

NETWORKING DINNER: a 3-course dinner will take place on the evening of 18th April at a local restaurant. This is not included in the registration fee and must be added to your booking if you wish to take part. Please note that wine is included in the price and transport from conference venue to the restaurant will be provided.



The prices above are inclusive of 20% VAT:  If you are registering from a European Institution/Company (excluding the UK), you do not have to pay VAT.  Please enter your Institution/Company VAT number at time of booking and the 20% VAT charge will be automatically removed.  If you do not enter a valid VAT number, 20% VAT will be included in your fee.


WHAT’S INCLUDED: the registration fees above include full access to the conference, delegate bag, coffee, refreshments, lunch on both days and Drinks Reception at City Chambers.

DINNER: the networking dinner at a local restaurant is not included in the registration fees and can be purchased at time of booking.

DISCOUNTS: we can offer discounts for 3 or more people attending from the same Institution/Company. Please contact us if you would like to find out more.

PAYMENT: please note that payment must be made in full at time of booking in order to confirm your registration and guarantee access to the event.

ACCOMMODATION: this is NOT included in the fees above and delegates are responsible for arranging their own accommodation. Please click on the Venue & Directions tab for some information.

VISA: It is sole responsibility of the attendee to take care of his/her own visa requirements. Biotexcel can issue an invitation letter only after the registration has been completed and payment has been received in full.

You can view our Terms & Conditions of booking here:  Registration Terms & Conditions


We encourage dialogue and interaction amongst all participants and we welcome the presence of sponsors to highlight new technologies, services and solutions within the relevant areas.  We have many sponsoring opportunities to suit all budgets, but we can also tailor specific packages to suit your needs. Some examples of sponsorship ideas are below, but please feel free to contact us and we’ll be happy to give you more details and talk about your requirements:

  • Gold Sponsor
  • Silver Sponsor
  • Exhibitor
  • Technology Presentation
  • Event Documentation
  • Drinks Reception
  • Customized Sponsorships to fit your budget

For more information please contact us.






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.



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.









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

You can park at the Radisson Blu Hotel, Edinburgh for a fee of £12.50 per night. The hotel has car parking space for 131 vehicles, available on a first come, first served basis.

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.


The Radisson Blu is located on the Royal Mile right in the centre of Edinburgh so there are plenty of hotels nearby.

Please note that accommodation is not included in the registration fee and delegates are responsible for arranging their own.  Below you can find some suggestions based on location.  Please note that Biotexcel does not have any association with the hotels and websites listed below.

If you would like to stay onsite, the Radisson Blu features 238 high-end bedrooms and suites offering dazzling views of Scotland’s capital city. Bedrooms are modern with sleek furnishings and Naturally Cool theme décor.

This hotel is conveniently located just a couple of minute walk from the Radisson Blu.  We have negotiated a rate of 85 GBP per night for a single room including breakfast at this hotel.  You can contact the hotel directly and quote the Biotexcel allocation (8484B00284) to receive this rate.  Please note that we have a limited number of rooms on allocation and these will only be available till 16th March so we recommend to book early in order to avoid disappointment.

Other hotels nearby include:

Hilton Edinburgh Carlton
Jurys Inn
Holiday Inn Express
Motel One Edinburgh Royal
and many smaller hotels and B&Bs



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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