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Genomic Medicine 2019 Cambridge

November 20, 2019 - November 21, 2019

Genomic Medicine 2019 Cambridge

20th & 21st November 2019


The third annual Genomic Medicine 2019 Cambridge will took place on 20th & 21st  November 2019 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 running scientific theme for this meeting like other Biotexcel genomic 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; whole genome & whole exome studies; epigenomics and many other topics.  We also heard about the latest novel applications, kits and platforms that are available from commercial genomic companies.

We had interesting talks including from Prof Willem H Ouwehand who did lead the NIHR BioResource Rare Diseases project as a pilot for the 100 000 Genomes Project; Dr Marc Tischkowitz, reader and honorary consultant will present about his interest which spans all aspects of hereditary cancer and translating genomics into clinical practice.  Dr Hilary Martin, Group Leader of Human Genetics at Sanger will present about population and medical genetics of highly consanguine groups.  Dr Ines Barroso, group leader of Metabolic Disease group also gave us a presentation about their genomic approaches to metabolic disorders.  In addition we had a very rich agenda where a host of other speakers told us about their latest findings in the use of genomics in research and clinical practice.

Audience participation was theme this year and we heard the views of delegates on their preferences when it comes to using particular genomic platforms, kits, applications.

On the evening of 20th November there was a 3-course networking dinner a the St John’s Chop House where speakers and delegates were able to meet and and carry on discussions in a more informal setting.

NETWORKING: in addition to the excellent science, Genomic Medicine 2019 Cambridge allowed delegates to interact with each other during networking events. These networking opportunities included:

  • Introductory group networking session on Day 1
  • Audience responses to genomic issues of interest to all delegates
  • Complimentary Drinks Reception sponsored by Bionano Genomics
  • Networking dinner at St. John’s Chop House on the evening of 20th November

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:

  • 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 – 10.15: Registration, Coffee & Networking
10.15 – 10.45: Ed Quazi – Networking and Collaborations Workshop
  SESSION CHAIR: Prof Eamonn Maher
10.45– 11.20: Prof Willem H Ouwehand, University of Cambridge and Wellcome Sanger Institute & NHS Blood and Transplant
The NIHR BioResource Rare Diseases Study – for the 100 000 Genomes Project
11.20 – 11.55: Dr Sarah Bowdin, Addenbrookes Hospital, Cambridge
Establishing a National Genomic Medicine Laboratory Service
11.55 – 12.25: TECHNOLOGY PRESENTATION by Dr Patrick Tarpey, East Midlands and East of England
Talk sponsored by Twist Bioscience
Evolution of cancer services in the NHS: A new Genomic Medicine Service.
12.25 – 13.25: Lunch, Exhibition, Networking
  SESSION CHAIR: Dr Gemma Chandratillake
13.25 – 14.00: Dr Ines Barroso, MRC Epidemiology Unit, University of Cambridge
The genetic lottery of obesity and thinness
14.00 – 14.35: Prof Paul Gissen, MRC LMCB, UCL
Novel Therapies for Inherited Disorders
14.35 – 15.05: TECHNOLOGY PRESENTATION by Dr Marie Just Mikkelsen, Samplix
Xdrop™ – Targeted Sequencing into the Dark and Unknown
15.05 – 15.35: Coffee, Exhibition & Networking
15.35 – 16.10: Dr Ruth Casey, Addenbrookes Hospital, Cambridge
The role of molecular imaging in the diagnosis and management of suspected hereditary neoplasia
16.10 – 16.45: Prof Richard Trembath, Medical and Molecular Genetics, King’s College London
The Value of Knowing the Target: Human Gene Knockouts
16.45 – 17.20: Dr Helen Firth, Cambridge University Hospital
Matchmaking in genomic medicine
17.20 – 18.05: Audience Response/Voting on Genomics & Debate
Hosted by Dr Gemma Chandratillake & Dr Ed Quazi
Have your say and get feedback from other delegates!
You can do this anonymously or debate openly.
18.05: DRINKS RECEPTION sponsored by Bionano Genomics
19.30: NETWORKING DINNER at St John’s Chop House


  SESSION CHAIR: Dr Steve Abbs
09.15 – 09.50: Prof Ken Smith, Dept of Medicine, Uni of Cambridge
Drivers of patient outcome in immune-mediated disease: from genomics to a prognostic test for IBD
09.50 – 10.25: Dr Hilary Martin, Wellcome Sanger Institute
The genetic architecture of developmental disorders: rare and common variants
10.25 – 10.55: Coffee, Exhibition & Networking
10.55 – 11.30: TECHNOLOGY PRESENTATION by Dr Suzanne Drury, Congenica
Prenatal diagnosis in the era of genomic medicine – clinical utility of comprehensive, rapid exome sequencing
11.30 – 12.05: Dr Marc Tischkowitz, University of Cambridge,
Hereditary breast and ovarian cancer in the genomic era
12.05 – 13.05: Lunch, Exhibition & Networking
  SESSION CHAIR: Dr Marc Tischkowitz
13.05 – 13.40: Prof Francesco Muntoni, Dubowitz Neuromuscular Centre, GOSH
Genetic therapies for Neuromuscular disorders: where are we?
13.40 – 14.15: Prof George Vassiliou, University of Cambridge & Wellcome Sanger Institute
Clinical Significance of Clonal Haematopoiesis
14.15 – 14.45 TECHNOLOGY PRESENTATION by Dr Peter Verhasselt, Integrated DNA Technology
New NGS solutions from IDT to simplify and speed-up your targeted sequencing journey
14.45 – 15.20 Coffee, Exhibition & Networking
15.20 – 15.55: Dr Thomas Keane, EMBL-EBI
The Federated European Genome-phenome Archive
15.55 – 16.30: Dr Gabriel Recchia, Winton Centre for Risk and Evidence Communication
Creating genetic and genomic reports that non-specialists can understand
16.30: Closing Remarks & Poster Award






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.


Samplix offers proprietary products for PCR-free targeted single molecule enrichment of genomic regions. Samplix’ technologies are based on advanced microfluidics which in a simple work process partitions millions of molecules in droplets thereby enabling high quality non-biased targeted enrichment of large fragments (>100 kb) for subsequent sequencing.


Oxford Nanopore Technologies has developed the world’s first nanopore DNA and RNA sequencing devices, which are scalable to your requirements. The MinION is a portable, real-time, long-read, low-cost device designed to bring easy biological analyses to anyone, anywhere, including resource-limited settings or remote environments. The GridION and PromethION devices serve users with larger projects or more samples. Delivering terabases of data, PromethION brings the benefits of long-read nanopore sequencing to large-scale population studies.
With nanopore sequencing devices, fully characterise human genetic variation by sequencing whole genomes, targeted regions or full-length RNA transcripts, from single cells to tissues. Long nanopore reads allow comprehensive analysis of structural variation, repetitive regions, haplotype phasing, RNA splice variants, isoforms, fusion transcripts and base modifications. Long sequencing reads enable resolution of challenging genomic regions and the delivery of more complete human genome assemblies. Experience streamlined, rapid end-to-end solutions with library preparation in as little as 10 minutes, and faster access to results with real-time analysis.
Oxford Nanopore Technologies products are currently for Research Use Only.


Nonacus is a precision medicine company and developer of innovative genomic healthcare solutions.
Based in Birmingham UK, the company develops novel NGS library preparation solutions primarily in the non-invasive healthcare space and based on next-generation sequencing, targeted DNA sequencing and real-time qPCR kits.
Nonacus products are designed to help customers analyse the most difficult of samples with a particular focus on cfDNA and FFPE. Allowing samples to be processed faster and with greater sensitivity and accuracy, while being compatible with leading instrumentation.


CeGat is one of the world-wide leaders in clinical genetics. It is a Germany-based company with subsidiaries in China and the USA. CeGaT was established in 2009 and was the first medical genetic company in Europe to introduce diagnostic panel approach. CeGaT’s highest diagnostic quality is confirmed by CAP, CLIA and ISO15189 certificates/accreditations.
The company offers a vast range of tests and methods such as single-gene sequencing/MLPA analysis, NGS panel (disease-related) sequencing, whole exome sequencing (WES Trio or single), array CGH and segregation analysis.  In addition, Research and Pharma Solutions Dept. Of CeGaT offers a big range of customized NGS services (e.g. WGS, RNA profiling, metabiome sequencing etc.) for human, animal, plant or microbial samples.


Congenica is a digital health company enabling genomic medicine with the world’s leading clinical decision support platform for accelerated genomic data interpretation.
We are committed to integrating clinical genomics into healthcare. Built on a foundation of clinical genomics expertise, we develop software products and services that make the use of complex genomic data routine, accessible and ubiquitous.Our headquarters are on the Wellcome Genome Campus in Cambridge, UK, however our reach is global. We are driven to empower Healthcare Professionals everywhere to transform health and wellness by converting genomic data into actionable information to provide life-changing answers.


Bionano is a life science company who developed the Saphyr system for the genome wide, unbiased detection of structural variants (SVs) starting from 500bp. While next generation sequencing induces lot of errors with SV detection due reads length and the repetitive nature of the genome, our mapping technology bypasses that by directly imaging single, large DNA molecules (250kb on average) allowing us to reconstitute maps the length of an entire chromosome arm.
We recently released new tools bringing coverage to 300X for the human genome (1.3Tbp), providing unrivalled depth for the detection of rare allelic variants, a common pitfall in the study of heterogenous cancer samples. Finally, users contributed over the years to diversify our applications with genome wide methylation study (as seen in a recent publication), genome editing safety studies or detection of insertion of exogenous sequence.
Our non-sequencing-based genome mapping technology images and analyses extremely long, high-molecular-weight DNA to provide views of genomes that no other technology can provide.



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.

The college has its own car park, however – due to maintenance works – there is very limited availability in the car park
Parking spaces may be available on a first come, first serve basis but they cannot be guaranteed or reserved. 
If however, on the day, you would like to check, the car park is located off Storey’s Way.  For sat-nav, please use postcode CB3 0DR/number 61.

Alternatively, we highly recommend that you use the Madingley Road Park & Ride. 
Buses towards the city centre run every 10 minutes and it only takes 6 minutes to reach Bridge Street.  The college is located 10 minute walk from Bridge Street. 
If you prefer to get a taxi from the park & ride, the college is less than 2 miles away and the journey should take less than 10 minutes (depending on traffic).

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 2019 Cambridge

20th & 21st November 2019

Murray Edwards College
University of Cambridge






Gold Sponsor




Exhibitors & Sponsors














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