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Genomic Medicine 2017 Cambridge

September 26, 2017 - September 27, 2017

Genomic Medicine 2017 Cambridge

26 & 27 September 2017


Genomic Medicine 2017 Cambridge took place on 26th & 27th September 2017 at Murray Edwards College in Cambridge as a partnership between Biotexcel, East of Anglia Genetics Service, Clinical Genetics at the University of Cambridge & the East of England NHS Genomic Medicine Centre.

The scientific theme for this meeting like most Biotexcel meetings covered the areas where Next Generation Sequencing is used in the analysis of human disease.  These topics included different disease areas where particularly promising genomic studies have been performed; large population studies such as the East London Genes & health project; whole genome & whole exome studies; epigenomics and many other topics.  In this meeting we also heared from commercial genomic companies, whether those that currently have genomic solutions on the market, or those that are spin-outs or in the research or earlier phases, as well as hearing from Illumina’s Chief Scientist David Bentley.

It was a really exciting meeting with great names from the world of genomics such as Prof Carlos Caldas, Prof Stephan Beck, Prof Eamonn Maher and many others.  We heard from the opinion leaders in Genomics in a relaxed casual setting and network with the speakers as well as with other fellow delegates.  The evening a networking dinner took place at Thaikhun restaurant where speakers and delegates met up and carried on discussions in an even more informal setting.

NETWORKING: in addition to the excellent science, Genomic Medicine 2017 Cambridge 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 sponsored by Centogene
  • Networking dinner at Thaikhun on the evening of 26th September

ACADEMIC POSTER SUBMISSIONS: We welcome academic poster presentation at our events. If you have some material to present, please send us an abstract by 1st September. 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:

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

…and others interested in the latest developments of:

  • Genomics
  • Next Generation Sequencing
  • Bioinformatics
  • Biomarkers
  • Computational Biology
  • Data Analysis
  • Data interpretation
  • DNA Sequencing
  • Genetics
  • 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 Eamonn Maher, University of Cambridge
Opening Scientific Presentation – Just unlucky? Probing the causes of multiple primary tumours
11.30 – 12.00: Prof David Van Heel, Blizard Institute, QMUL
Human Knockouts, and East London Genes & Health 
12.00 – 12.30: TECHNOLOGY PRESENTATION by Dr Sara Gonzalez-HilarionTakara Bio Europe
Breaking performance barriers in NGS library preparation
12.30 – 13.30: Lunch, Exhibition, Networking
SESSION CHAIR: Dr Serena Nik-Zainal
13.30 – 14.00: Prof Sharon Peacock, Department of Medicine, University of Cambridge
Using genomics to investigate the source of drug-resistant pathogens that cause nosocomial infection
14.00 – 14.30: Prof Carlos Caldas, Director of Cambridge Breast Cancer Research Unit
Personalized Breast Cancer Programme – providing genomic profiling in the clinic in Cambridge
14.30 – 15.00: TECHNOLOGY PRESENTATION by Dr Amy TimpsonPromega
Improve your NGS library preparation with Promega’s new Pronex™ technology for DNA clean-up, size selection and Quality Control testing
15.00 – 15.30: Coffee, Exhibition & Networking
15.30 – 16.00: Dr Manju Kurian, GOSH/UCL
Personalised medicine approaches for childhood neurological disorders
16.00 – 16.30: Dr Emma Baple, Royal Devon & Exeter NHS Foundation Trust
Moving from Diagnostic Exomes to Genomes in the Clinic
16.30 – 16.50: Dr Gemma Chandratillake, East of England Genomic Medicine Centre
This is the first I’ve heard about it”:  Training the Healthcare Workforce or the Genomics Era
16.50 – 17.45: PANEL DEBATE: Topical issues and Bottlenecks
Panel: Serena Nik-Zainal, Erah Elhaik & James Hadfield – Host: Ed Quazi
18.00 – 19.00: DRINKS RECEPTION sponsored by Centogene
19.30: NETWORKING DINNER at Thaikhun (booking required)


SESSION CHAIR: Dr James Hadfield
09.00 – 09.30: Dr David Bentley, VP & Chief Scientist, Illumina
Genomes for Medicine
09.30 – 10.00: Prof Stephan BeckUCL, Cancer Institute
Towards Personal Epigenomics
10.00 – 10.30: TECHNOLOGY PRESENTATION by Dr Rahna Ayub, Qiagen
10.30 – 11.00: Coffee, Exhibition & Networking
11.00 – 11.30: Prof Lucy Raymond, CIMR, University of Cambridge
How many more tests?  Are we nearly there yet?
11.30 – 12.00: Prof Sadaf Farooqi, Cambridge Neuroscience, University of Cambridge
Obesity: genetics and beyond
12.00 – 12.30: TECHNOLOGY PRESENTATION by Andrew LivingstonRoche Diagnostics
AVENIO:  Meeting the challenges of liquid biopsy
12.30 – 13.30: Lunch, Exhibition & Networking
SESSION CHAIR: Dr Manju Kurian
13.30 – 14.00: Prof Rob Semple, University of Edinburgh
Postzygotic mutations activating PI-3-Kinase signalling in human overgrowth disorders
14.00 – 14.30: Dr Serena Nik-Zainal, University of Cambridge
Exploiting the mutational landscape of cancer genomes for clinical applications
14.30 – 15.00: Dr James Hadfield, CR UK
Emerging technologies in genomics
15.00 – 15.30: Coffee, Exhibition & Networking
SESSION CHAIR: Darren Grafham
15.30 – 16.00: Prof Lyn ChittyUCL Institute of Child Health & Great Ormond Street NHS Foundation Trust
Rapid prenatal testing using next generation sequencing
16.00 – 16.30: Dr Eran Elhaik, University of Sheffield
The Taming of the Skew – how to control for population stratification in drug trials\association studies to improve their precision
16.30 – 17.00: Dr Ben Shaw, swiftDX
Rapid lateral flow DNA diagnostics


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

For more information please contact us.





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


Takara Bio Europe is a member of the Takara Bio Group, a leading supplier of tools for life scientists worldwide.
Through our brand names TAKARA®, CLONTECH® and CELLARTIS® we develop innovative technologies in the fields of Cell Biology, Molecular Biology, Proteomics and Stem Cell Research. From next-generation sequencing and PCR, to cloning and genomics, we offer high-performance reagents you can count on for all areas of molecular biology.
Key products include SMARTer™ cDNA synthesis kits for Next Generation Sequencing, the innovative In-Fusion® HD Cloning Plus System, high performance PCR/qPCR reagents, Tet-regulated gene expression systems, Living Colors® Fluorescent Proteins, as well as a broad choice of viral vectors/particles and transduction tools. With the recent acquisition of Takara Bio Europe AB (formerly Cellartis), Takara Bio has expanded its portfolio with ready-to-use hiPSC derived hepatocytes and cardiomyocytes, culture media, as well as services such as iPS cell generation, engineering and differentiation.  Our best-in-class products are backed by expert technical assistance, because good science needs great support.


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.


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.



Lexogen GmbH is a biotech company based in Vienna, Austria, with unique proprietary RNA-Seq technologies that enable detailed interrogation of the whole transcriptome, mRNA gene expression profiling, small RNA and targeting specific transcripts. Lexogen specializes in the development of novel RNA research tools which range from efficient RNA isolation method (SPLIT), full length cDNA synthesis (TeloPrime), spike-in RNA variant control mixes (SIRVs), RNA-Seq library preparation methods (QuantSeq 3’ mRNA, QuantSeq-Flex, SENSE Total, SENSE mRNA & small RNA), RNA enrichment (Poly(A) RNA selection), rRNA depletion (RiboCop) and data analysis tool (Mix2). Using Lexogen’s QuantSeq 3’ mRNA-Seq library preparation we offer an affordable and reliable full RNA-Seq service from RNA to gene expression profiling data analysis.


Illumina is a leading developer, manufacturer, and marketer of life science tools and integrated systems for large-scale analysis of genetic variation and function. These systems are enabling studies that were not even imaginable just a few years ago, and moving us closer to the realization of personalized medicine. With rapid advances in technology taking place, it is mission-critical to offer solutions that are not only innovative, but flexible, and scalable, with industry-leading support and service.
We strive to meet this challenge by placing a high value on collaborative interactions, rapid delivery of solutions, and meeting the needs of our customers.
Our customers include a broad range of academic, government, pharmaceutical, biotechnology, and other leading institutions around the globe.


PerkinElmer, Inc. is a global leader committed to innovating for a healthier world. With our proprietary nucleic acid isolation technology, fully integrated automated library prep, robust sequencing chemistries, sample quality quantitation and visualization tools for analysis of complex sequencing data, we help you deliver top-quality samples for world-class genomics research from start to finish.



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.


Founded in 2011 as a wholly owned subsidiary of Biolegio BV, Nimagen specializes in life sciences applications for R&D and diagnostics with premium quality products for the Molecular Biology sector.
Our product range includes a complete portfolio for DNA Sequencing and Fluorescent Fragment Analysis applications, from core PCR reagents and primers, clean-up solutions, sequencing kits and instrument consumables.
In 2017 NimaGen introduced a novel target enrichment system for routine Next Generation DNA Sequencing, using single molecule Molecular Inversion Probes (smMIPs). The Nimagen EasySeq™ NGS Targeted Capture System offers numerous advantages over existing enrichment systems, with no need for DNA fragmentation, a single amplification step and one-tube purification prior to sequencing, the method is both time and cost effective. Go from sample to data analysis in less than 48 hrs even when working with FFPE derived DNA and avoid the need for additional tests such as qf-PCR or MLPA®


Fabric Genomics™ is a global computational genomics company offering end-to-end genomic data analysis and clinical reporting solutions for clinical labs, hospital labs, country sequencing programs, and life science companies. Fabric Genomics’ analytic capabilities begin with raw data analysis and include the delivery of rapid, comprehensive insights for panels, exomes, and whole genomes. Our software can process FASTQ or VCF files, providing alignment, variant calling, guideline-driven variant classification, variant annotation, and clinical reporting for hereditary diseases and oncology. Our breakthrough Biograph technology enables accurate detection of structural variants and provides population-scale data mining capabilities. Fabric Genomics was founded by scientists and industry pioneers in bioinformatics, large-scale genomics and molecular diagnostics and is headquartered in California, with offices in Seattle, Boston and London. By accelerating access to insights related to the cause of genetic diseases, Fabric Genomics is leading the way in precision healthcare. Follow us on Twitter, LinkedIn and Facebook.


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.




Buckingham House
Murray Edwards College
Buckingham Road – off Huntingdon Road
University of Cambridge
TEL:   +44 (0)1223 762100

Please click the following link for PDF MAPS & DIRECTIONS

Directions to Buckingham House, Murray Edwards College

Buckingham House is a dedicated conference centre which is part of Murray Edwards College and it’s located on Buckingham Road (off Huntingdon Road), opposite the college main entrance.  You can view the college map from the Offical University of Cambridge website.  Murray Edwards college is in a very convenient location being just a 10-minute stroll from the heart of the city.

From the M11, take junction 13 onto the A1303 towards Cambridge city centre.
From the A14, take junction 31 onto the A1307 towards Cambridge city centre.

Cambridge train station is around 2 miles away from Murray Edwards College.  There are regular trains from London, Birmingham and Norwich to Cambridge.
There are regular buses during the day with stops outside the train station that will take you to the city centre. From St. Andrews Street, take the Citi 5 or Citi 6 bus to Murray Edwards. Buses run every 20 minutes.

London Stansted is the nearest international airport.
There are regular bus services by National Express from Stansted Airport to Cambridge Bus Station and they also operate bus services to all London international airports.
There are regular rail services connecting Cambridge to all London airports.

Cambridge is one of the best places to cycle in the UK and has an extensive cycle network.
Cycle parking is available by the tennis courts off Storey’s Way and close to the Porters’ Lodge off Huntingdon Road.

For visitors, parking is available in the car park, off Storey’s Way. If you are using a sat-nav, please use the postcode CB3 0DR/number 61.

Please note that Cambridge in September can be very busy and we recommend to book accommodation as early as you can.  There are many small B&B in Cambridge and sometimes is also possible to find accommodation in the colleges.  You may find the websites below useful:


PLEASE NOTE:  Accommodation is not included in the registration fees and should be arranged directly by the registrants.  All the above is for information only and we do not have any connection with the hotels and websites listed.

Genomic Medicine 2017 Cambridge

26 & 27 September 2017

Murray Edwards College





Gold Sponors





Silver Sponsors



Perkin Elmer

Exhibitors & Sponsors








Fabric Genomics




Media Partners



September 26, 2017
September 27, 2017



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