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Genomic Medicine 2018 Cambridge

December 5, 2018 - December 6, 2018

Genomic Medicine 2018 Cambridge

5th & 6th December 2018

YOU CAN VIEW SOME PICTURES OF THIS EVENT ON OUR FACEBOOK PAGE.  Please click on the Facebook buttonThe second annual Genomic Medicine 2018 Cambridge took place on 5th & 6th December 2018 at Murray Edwards College in Cambridge and again 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.  In this meeting we also heard 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.

We had some great names speaking at this event including Prof Patrick Chinnery (Cambridge), Prof Yanick Crow (Edinburgh), Prof Deborah Mackay (Southampton), Dr Anna Middleton (Connecting Science, Wellcome Genome Campus), Prof Lucy Raymond (Cambridge) and more.  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.  On the evening of 5th December a networking dinner took place at The Punter Pub where speakers and delegates were able to meet and and carry on discussions in an even more informal setting.

NETWORKING: in addition to the excellent science, Genomic Medicine 2018 Cambridge allowed delegates to interact with each other during networking events. These networking opportunities included:

  • Introductory networking session on Day 1
  • Panel debate
  • Networking dinner at local restaurant on the evening of 5th December

Who attended:

  • 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
  SESSION CHAIR: Prof Eamonn Maher
11.00 – 11.35: Prof Lucy Raymond, University of Cambridge
Whole genome sequence analysis of critically ill children in intensive care
11.35 – 12.10: Dr Athena Matakidou, Astra Zeneca
Transforming drug discovery and development with an integrated genomics approach 
12.10 – 12.40: Dawn O’Sullivan, Grampian NHS Trust, Aberdeen – Sponsored by Sophia Genetics
SOPHiA custom solution targeting Cardiac Arrhythmia: streamlined implementation in clinical routine
12.40 – 13.40: Lunch, Exhibition, Networking
  SESSION CHAIR: Dr Gemma Chandratillake
13.40 – 14.15: Dr Caroline Wright, University of Exeter Medical School
Making new genetic diagnoses with old data
14.15 – 14.50: Dom McMullan, West Midlands Regional Genetics Laboratory
Prenatal sequencing; lessons from the Prenatal Assessment of Exomes and Genomes (PAGE) project
14.50 – 15.25: Prof Dominik Seelow, Charité, Berlin
Finding disease mutations with the help of the phenotype
15.25 – 16.00: Coffee, Exhibition & Networking
16.00 – 16.35: Dr Anna Middleton, Connecting Science, Wellcome Genome Campus
How is society responding to genomics?
16.35 – 17.10: Dr Tim Forshew, Inivata
Circulating tumour DNA analysis as a tool for non-invasive patient stratification and beyond
17.10 – 18.00: PANEL DEBATE: Would you sequence your genome? 
Discussion between panel and audience of issues involved from everyone’s own perspectives.
Host: Ed Quazi (Biotexcel)
With Dr Anna Middleton (Connecting Science, Wellcome Genome Campus), Dr Caroline Wright (University of Exeter Medical School), Dr Athena Matakidou (Astra Zeneca) & Dr Gemma Chandratillake (EE NHS GMC) Prof Lucy Raymond (University of Cambridge)
18.30: NETWORKING DINNER at The Punter Pub (payable)


  SESSION CHAIR: Dr Steve Abbs
09.15 – 09.50: Prof Ferenc Mueller, University of Birmingham
What does zebrafish tell us about how our genes get switched on?
09.50 – 10.25: Prof Yanick Crow, MRC IGMM, University of Edinburgh
Human type I interferonopathies: a heterogenous set of genetic disorders converging on a common pathway
10.25 – 10.55: Coffee, Exhibition & Networking
10.55 – 11.30: Prof Deborah Mackay, Medicine, University of Southampton
Genomic imprinting: lessons on the 4D genome
11.30 – 12.05: Prof Patrick Chinnery, MRC Mitochondrial Biology Unit, Cambridge
How do mitochondrial diseases arise in the population?
12.05 – 13.05: Lunch, Exhibition & Networking
  SESSION CHAIR: Dr Anna Middleton
13.05 – 13.40: Prof Michael Parker, University of Oxford
Sharing genomic data in the interests of patients and the public in the 21st Century: are the days of informed consent numbered?
13.40 – 14.15: Dr Estee Torok, University of Cambridge
Translating microbial genomics into clinical practice – are we there yet?
14.15 – 14.45 Coffee, Exhibition & Networking
14.45 – 15.20 Dr Sanjay Sinha, Cambridge Stem Cell Institute
Bridging the translational gap: complex models of vascular disease using human stem cells
15.20 – 15.55: Prof Geoff Woods, Cambridge Institute for Medical Research
The genetics of pain
15.55 – 16.30: CLOSING TALK & REMARKS – Dr Steve Abbs, Cambridge University Hospitals NHS Foundation Trust
The National Genomic Medicine Service
16.30: Poster Award, Prize Draw






Global leader in Data-Driven Medicine, SOPHiA GENETICS is a health tech company which has developed SOPHiA Artificial Intelligence (AI), the most advanced technology for clinical genomics, helping healthcare professionals better diagnose and treat patients. The global network of over 450 institutions from 60 countries that use the SOPHiA DDM® analytical platform powered by SOPHiA form the world’s largest clinical genomics community.By enabling the rapid adoption of genomic testing worldwide, turning data into actionable clinical insights, and sharing knowledge through its community, SOPHiA GENETICS is democratizing Data-Driven Medicine to help save lives.


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.


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


Newmarket Scientific is a provider of kits and reagents for Next Generation Sequencing, including the NEXTflex range of library prep kits, amplicon panels and barcodes




Diagenode is a leading provider of complete solutions for epigenetics research and sample preparation. The company has developed solutions for a comprehensive approach to gain insights into DNA, RNA, and chromatin studies. Diagenode offers innovative reagent solutions and instruments to streamline next generation sequencing assays including library preparation solutions, DNA and chromatin shearing, low input RNA-sequencing, full automation platforms, as well as DNA methylation and ChIP-seq workflows. The company’s latest innovations include CATS-based RNA sequencing for low and difficult inputs and a full suite of epigenetics and NGS assay services. For more information about Diagenode, please visit the company’s website at www.diagenode.com.


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.



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.



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.


Frontiers in Genetics publishes rigorously peer-reviewed research on genes and genomes relating to all the domains of life, from humans to plants to livestock and other model organisms. Led by an outstanding Editorial Board of the world’s leading experts, this multidisciplinary, open-access journal is at the forefront of communicating cutting-edge research to researchers, academics, clinicians, policy makers and the public. The study of inheritance and the impact of the genome on various biological processes is well documented. However, the majority of discoveries are still to come. A new era is seeing major developments in the function and variability of the genome, the use of genetic and genomic tools and the analysis of the genetic basis of various biological phenomena. Frontiers in Genetics covers many areas of research from Genetic Disorders to Genomic Medicine and comprises the full spectrum of genetic and genomic inquiry, from the most basic to the most clinically applied, incorporating methodology, applications, and implications.




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 2018 Cambridge

5th & 6th December 2018

Murray Edwards College
University of Cambridge






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December 5, 2018
December 6, 2018



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