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Genomic Medicine 2020 Edinburgh

May 19, 2020 @ 10:00 am - May 20, 2020 @ 6:00 pm

Cambridge Rare Disease Network - Genomic Medicine 2020 Edinburgh 1
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The 7th annual Genomic Medicine 2020 Edinburgh conference will place on 19th & 20th May 2020 at the Radisson Blu Hotel in the heart of Edinburgh.  This event will follow our running scientific theme and focus on Genomic technologies & tools that are used to look at human disease both in research as well as in a clinical setting. We will cover NGS technologies and applications, rare diseases & cancer and many more areas which you can check by clicking on the agenda tab.

Current speakers for this meeting include:

– Prof Ian Tomlinson (Edinburgh)
– Prof Andrew McIntosh (Edinburgh)
– Prof Ruth Jarrett (Glasgow)
– Prof Jill Clayton Smith (Manchester)
– Prof John Sayer (Newcastle)
…and more as you can view on the ‘Speakers & Agenda tab’.

Specifically at this meeting, we are aiming to cover topics such as cancer evolution, rare disease and disease modelling, genomic approaches to depression, studies using Single Cell RNA Sequencing, applications of whole genome sequencing for rare disease diagnosis, ancestral lineage studies and much more.  Keep an eye on the agenda to view updates on speakers and presentation titles.

Cambridge Rare Disease Network - Genomic Medicine 2020 Edinburgh 2This conference is organized in partnership with:

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


NETWORKING: the photo above shows a moment during the initial networking session from last year conference. Networking will continue throughout the conference and include an audience session with Response/Voting Debate on Genomics at the end of day 1.  After the debate there will also be a Drinks Reception hosted by the Lord Provost of Edinburgh at City Chambers and a networking dinner at a local restaurant to continue discussions in more informal settings.

ACADEMIC POSTER SUBMISSION:  We welcome academic poster presentation at our events. If you have some material to present, please send us an abstract by 19th April 2020. 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 discounts will not be possible.

Who should attend 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 – 19th May

09.00 – 10.30: Registration, Coffee & Networking
10.30 – 11.00: Prof Nikolai Zhelev (University of Dundee) – Introduction, Networking and Collaborations Workshop
  CHAIR:      Dr Shona Kerr
11.00 – 11.30: Prof Andrew McIntosh, Biological Psychiatry, University of Edinburgh
Advances in our understanding and prediction of depression using genomic approaches
11.30 – 12.00: Prof Ruth Jarrett, Molecular Pathology, University of Glasgow
Identifying ancestral lineages of iciHHV-6
12.00 – 12.30: TECHNOLOGY PRESENTATION by Dr Peter Verhasselt, Integrated DNA Technologies
12.30 – 13.30: Lunch, Exhibition, Networking
  CHAIR:      Dr Lee Murphy
13.30 – 14.00: Prof Sophie Hambleton, Paediatrics & Immunology, Newcastle University
14.00 – 14.30: Prof Yanick Crow, Centre for Genomic and Experimental Medicine, University of Edinburgh
14.30 – 15.00: Prof Geoff Barton, Bioinformatics, University of Dundee
15.00 – 15.30: TECHNOLOGY PRESENTATION by Sponsor
15.30 – 16.00: Coffee, Exhibition & Networking
  CHAIR:      Dr Lynne Mennie
16.00 – 16.30: Prof Peter Holmans, Biostatistics and Genetic Epidemiology, Cardiff University
Genetic Modifiers of Huntington’s Disease
16.30 – 17.00: Dr Rita Horvath, Clinical Neurosciences, University of Cambridge
17.00 – 17.45: Audience Responses/Voting hosted by Prof Nikolai Zhelev – 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.
18.00 – 19.00: DRINKS RECEPTION
19.15: NETWORKING DINNER (booking required) at Local Restaurant

DAY 2 – 20th May

  CHAIR:    Dr Rita Horvath
09.00 – 09.30: Dr Sean James, Genomics Ambassador West Midlands South
09.30 – 10.00: Prof Andrew Webster, Molecular Ophthalmology, University College London (UCL)
The impact of modern genetic testing on patients and families with inherited eye disease
10.00 – 10.30: TECHNOLOGY PRESENTATION by Steven Garside, Nimagen
Optimizing your sample tracking and contamination control with the RCPCR based Human Identification and Sample Tracking kit
10.30 – 11.00: Coffee, Exhibition & Networking
11.00 – 11.30: Prof Ian Tomlinson, Director of the Edinburgh Cancer Research Centre
11.30 – 12.00: Prof Jill Clayton Smith, Medical Genetics, University of Manchester
12.00 – 12.30: TECHNOLOGY PRESENTATION by Sponsor
12.30 – 13.30: Lunch, Exhibition & Networking
  CHAIR:      Prof Caroline Hayward 
13.30 – 14.00 Prof John Sayer, Newcastle upon Tyne Hospitals & Newcastle University
14.00 – 14.30: Dr Sian Corrin, All Wales Medical Genomics Laboratory
14.30 – 15.00: Dr Sebastien Viatte, Genetics, University of Manchester
Investigation of monocyte heterogeneity in rheumatoid arthritis using Single Cell RNA Sequencing
15.00 – 15.30: Coffee, Exhibition & Networking
15.30 – 16.00: Dr Lynne Mennie, Medical Genetics, University of Aberdeen
Evaluation of whole genome sequencing for rare disease diagnosis in NHS Scotland
16.00 – 16.30: Dr Lucija Klaric, MRC Human Genetic Unit, University of Edinburgh
Whole exome sequencing and proteomics in the Viking study
16.30 – 16.45 Closing Remarks, Best Poster Award & Prize Draw

The registration fees below include:

  • Full access to the conference
  • Delegate bag
  • Coffee, Refreshments and Lunch on both days
  • Drinks Reception at City Chamber on 19th May at 6 pm

NETWORKING DINNER: a 3-course dinner will take place on the evening of 19th May 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.



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 added to your fee.

The registration fees above include full access to the conference, delegate bag, coffee, refreshments & lunch on both days.

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 a confirmation 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/Technology Presentation
  • Silver Sponsor
  • Exhibitor
  • Event Documentation

For more information please contact us.


Cambridge Rare Disease Network - Genomic Medicine 2020 Edinburgh 3


Cambridge Rare Disease Network - Genomic Medicine 2020 Edinburgh 4NimaGen delivers high quality products for Molecular Biology, with focus on Sanger and NGS sequencing. NimaGen is dedicated to deliver solutions that help advance life science applications for research and diagnostics. This year NimaGen will promote their Revolution in targeted NGS. Reverse Complement PCR; the safest, the fastest, the simplest Amplicon Resequencing Method Available. Providing a simultaneous target amplification and NGS indexing in 1step, closed tube assay.
Visit www.nimagen.com


Cambridge Rare Disease Network - Genomic Medicine 2020 Edinburgh 5Integrated DNA Technologies (IDT) is considered an industry leader in oligo production.  Vertical integration of reagents, instruments and processes and the focus on quality ensure superior coupling efficiencies resulting in the highest purity, especially for long oligos.  IDT is capitalizing on the high quality oligos by supplying innovative solutions throughout the life sciences, including in Next Generation Sequencing.  Individually synthesized, quality controlled and normalized Ultramer xGen® Lockdown probes are at the heart of capture panels used in hybridization-based targeted sequencing approaches such as our xGen Exome Research Panel. Chemically modified blocking oligos enhance the capture efficiency, lowering the overall sequencing cost.  And IDT provides specialty adapters that enable molecular barcoding and mitigation of index hopping, both contributing to reliable ultra-sensitive variant detection.  The application of the rhAmp PCR primer design for the multiplexed amplification of target sequences in the rhAmpSeq technology results in largely decreased primer-dimer formation, higher on-target rates and more uniform target coverage.


Cambridge Rare Disease Network - Genomic Medicine 2020 Edinburgh 6Fios 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.


Cambridge Rare Disease Network - Genomic Medicine 2020 Edinburgh 7

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.


May 19, 2020 @ 10:00 am
May 20, 2020 @ 6:00 pm
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Biotexcel Limited
+44 (0)161 870 6056
View Organiser Website


The Radisson Blu Hotel
80 High Street The Royal Mile
Edinburgh, EH1 1TH United Kingdom
+ Google Map
+44 (0) 131 557 9797
View Venue Website