The Fourth UK-Dutch Genetics Conference
7-9 March 2016
City Hall, Cardiff, Wales, UK
Programme
Day 1: Monday 7th March – Joint programme
09:00
Registration and coffee
09:50
Welcome/ Introduction- Professor Dhavendra Kumar
10:00
Opening address/ Key note Lecture- Professor Ruth Newbury-Ecob,
President Clinical Genetics Society, UK
10:30 – 11:30
JOINT SESSION I (Lead- CLINICAL GENETICS)
RARE DISEASES-RECENT TRENDS IN DIAGNOSIS AND THERAPY
Moderator/ Chairs: Prof. Bronwyn Kerr, Manchester, UK & Mieke van Haelst,
Uttrecht, NL
10:30
Diagnostic potentials of Whole Exome & Whole Genome sequencing
(WES/WGS) for rare genetic diseases
Professor Han Brunner, Nijmegen, NL
11:00
New drug developments for rare genetic diseases- the model of type
1 Interferonopathies
Professor Yanick Crow, Manchester, UK/ INSERM, France
11:30
Coffee break
JOINT SESSION I (Lead- CLINICAL GENETICS)- Contd.
Chairs: TBC
11:45
OPEN/ ABSTRACTS
12:00
OPEN/ ABSTRACTS
12:15
OPEN/ ABSTRACTS
12:30 – 13:00
Annual general Meetings VKGN & UK-CGS
13:00-14:00
14:00 – 15:30
LUNCH and POSTER VIEWING
JOINT SESSION II (Lead- CANCER GENETICS)
NEOPLASIA AND MALFORMATIONS
Moderator/ Chairs: Lucy Side, London, UK; Margreet Ausems, Utrecht, NL
Contact information
14:00
Oncology in clinical dysmorphology- an overview, Marjolin Longmans,
NL
14:25
Molecular basis of neoplasia in malformations- the paradigm of
Wilms Tumour, Dr. Keith Brown, Royal Marsden, London
14:50
Dysmorphic syndromes with Wilms Tumor-a clinical and molecular
overview, Dr. Marry van den Heuvel-Eibrink, Princess Maxima Centre,
Utrecht, NL
15:15
OPEN/ ABSTRACTS
15:30
OPEN/ ABSTRACTS
15:45
TEA BREAK/ POSTER VIEWING
16:15 – 18:30
JOINT SESSION III: CLINICAL & CANCER GENETICS TRAINEE
PRESENETATIONS
Chairs: TBC/ Judges Panel- Joint UK Dutch Clinical & Cancer Groups
UK- THE ROBIN WINTER PRIZE+ 2 UK/ DUTCH PRIZES- 1st, 2nd, 3rd
15 Minutes= 8 presentations
19:00
Poster viewing/ Welcome Drinks Reception/ Welsh Male Choir
CONFERENCE NET WORKING PARTY/ FINGER BUFFET
Day 2: Tuesday 8th March 2016
08:30
Registration and coffee
09:00-11:00
JOINT SESSION IV – PLENARY
CHAIRS: Prof RUTH NEWBURY-ECOB (UK) & DR. FREDERICK HES (NL)
DR. MATT HURLES, SANGER GENOME CENTRE, CAMBRIDGE, UK
‘Genome-wide sequencing in developmental disorders: future
prospects and challenges’
DR. ERIC A SISTERMANS, Amsterdam, NL
‘Hartwig Whole Genome Sequencing initiative’
PROF. MARK CAULFIELD, ST.BARTS, LONDON, UK
Key note address
‘Genomics England shaping the future of clinical genetics & genomics’
11:00-11:30
Coffee break
11:30 – 13:00
SESSION V: CONCURRENT
(A) CLINICAL GENETICS
RARE NEURODEVELOPMENTAL DISORDERS
Moderators/ Chairs: Professor Daniela Pilz (Galsgow) & Dr. Grazia Mancini
(Erasmus)
11:30 Periventricular nodular heterotopias
Dr. Carlos Cardoso, INSERM, France
12:00 Polymicrogyria- Clinical and Molecular Considerations
Dr. Andrew Fry, Inst. Med. Genetics, Cardiff, UK
12:30 OPEN/ ABSTRACTS
12:45 OPEN/ ABSTRACTS
(B) CANCER GENETICS
Moderators/ Chairs: TBC
"Contextualising the interpretation of genetic variants in
common cancers'.
Diana Eccles, Southampton, UK
12:00 ' How to deal with moderate (breast cancer) risk genes.'
Setareh Moghadasi, NL
11:30
12:30 OPEN/ ABSTRACTS
12:45 OPEN/ ABSTRACTS
13:00 – 14:30
LUNCH and POSTER VIEWING
14:30 -16:00
SESSION VI: CONCURRENT
OPEN PRESENTATIONS
(A) CLINICAL GENETICS (MODERATOR- MIEKE/ RUTH)
OPEN/ABSTRACTS
OPEN/ ABSTRACTS
OPEN/ABSTRACTS
OPEN/ABSTRACTS
(B) CANCER GENETICS (MODERATOR- MARGRIT/ ALAN DONALDSON)
14:30
14:50
15:10
15:30
14:30
14:50
15:10
15:30
Muriel Adank, Amsterdam or Jan Oosterwijk, Groningen, NL.
'Update CHEK2: the Dutch experience'.
Ian Frayling, Cardiff, UK 'How to deal with cancer gene panels'.
OPEN/ ABSTRACTS
OPEN/ ABSTRACTS
16:00
SESSION VII: AWARD CEREMONY DUTCH AND UK PRESENTATIONS
Prof RUTH NEWBURY-ECOB (UK) & DR. FREDERIK HES (NL)
16:30
CONFERENCE CLOSED: Bon Voyage- Good bye!
Day 3: Wednesday 9th March – Joint UK-Dutch Dysmorphology club
Cardiff University School of Medicine, University Hospital of Wales, Heath
Campus, Cardiff, Wales, UK
Facilitators- Dr. Jane Hurst & Dr. Richard Scott, Consultants in Clinical Genetics,
Great Ormond Street Hospital for Sick Children, London;
Dr. Andrew Fry, Consultant in Clinical Genetics, University Hospital of Wales; Cardiff
Dr. Vinod Varghese, Consultant in Clinical Genetics, University Hospital of Wales,
Cardiff
Dr. Mieke van Haelst, Consultant in Clinical Genetics, Uttrecht, NL
Dr. Alice Brooks, Consultant in Clinical Genetics, Uttrecht, NL
09:30
Late registration, coffee and tea
10:00
Case presentations*
12:30
Lunch (serving of sandwiches, fruit, and drinks)
13:30
INVITED LECTURE- TBC
Case presentations*
15:00
Coffee/tea break
15:30
Case presentations*
17:00
End of programme
* Order of presentations to be notified prior to the meeting
NB: Should you have further questions please contact Professor Dhavendra Kumar
(kumard1@cf.ac.uk) or Dr. Andrew Fry (Andrew.fry2@wales.nhs.uk )