Report – 9th Manchester Dysmorphology in the Genomic Era Course, 17th-19th April 2018

The 9th Manchester Dysmorphology in the Genomic Era Course was held in Nowgen, part of the Manchester Centre for Genomic Medicine, from April 17th-19th 2018. This was the seventh course supported by a grant from the ESHG to allow scholarships to be offered to participants, particularly, but not exclusively, from economically disadvantaged countries in Europe. We were also lucky this year to have further sponsorship from ERN-Ithaca.

Demand for the course was higher than ever. We had 52 delegates from 26 countries more than 20% increase from 2017; for the first time we had two delegates from USA, one each from Argentina, India, Malaysia, Saudi and Palestine. Of course, most were from Europe with the majority of scholarships awarded to young doctors from Slovenia, Romania, Poland, Hungary, Serbia, Portugal, Lithuania and Czech Republic. We were really pleased that the scholarship holder from Ukraine who was unable to attend last year due to visa problems was able to make it this year. We sincerely hope that Brexit, which will have happened by the next course, does not affect either the numbers applying or the logistics. The Mancunian (Manchester resident) organisers and speakers remain resolutely European!!

The contribution from ESHG (~£5,000) allowed us to award fourteen scholarships for the full or partial cost of the course as well as a small subsidy to the overall cost to ensure those without scholarships can attend.  We aim to keep the costs as low as possible (£390) and did not increase the cost this year in spite of UK inflation. This includes the course and copies of the presentations, 2 nights’ hotel accommodation, all meals including a night out in an Italian restaurant, and transport between hotel and course venue.

All delegates introduce themselves during the first session. Everyone spoke good or excellent English and it was noticeable from the second day onwards that delegates were mixing and enjoying learning about genetics in different countries.

There were 13 lecturers who contributed their expertise for no charge, 11 from Manchester plus Daniela Pilz from Glasgow and Willie Reardon from Dublin who gave up three days of their own time. Course format included traditional lectures, interactive sessions, workshops and quizzes. In addition many participants gave excellent case presentations. New lecturers/talks this year included Autoinflammatory  and metabolic syndromes

NGS and large scale studies are influencing clinical practice and most lectures included these new diagnostic approaches and the all-important phenotyping to interpret results.

Social media featured in the course for the first time. The oldest member of the faculty (DD) is now active on Twitter @DDysmo putting the youngsters to shame and generated a lot of publicity and interest in the course from retweets and ‘likes’! More importantly Florence Riccardi from Marseilles who is an ERN-Ithaca sponsored fellow in Manchester for 6 months has developed a Facebook group for trainees and many of the participants were keen to join to consolidate the emerging network of new trainees which we hope will last their whole careers and is one of the great benefits of ESHG-sponsored courses. The programme is attached (appendix 1).

Feedback was excellent with some excellent suggestions for the future from participants who also commented that, in addition to learning a great deal about dysmorphology, they particularly valued the opportunity to meet colleagues from all over the world. Many felt that they would not have been able to attend without an ESHG scholarship. Some delegates stayed on to attend the ESHG-sponsored Cardiogenetics course which was also in Manchester this year.

We hope to offer another course in Spring 2019 in spite of Brexit.  We continue to evolve the content to take account of advances and of participants’ comments and this year again most lecturers have agreed that PDFs of their talks can be sent to participants

Course Organisers

Dian Donnai

Jill Clayton-Smith

Siddharth Banka

Sofia Douzgou

Manchester Dysmorphology Course 17th-19th April 2018

17/04/2018 Tue 
12:00 12:30   Course Registration Anne Burns
12:30 12:45   Course Introduction Dian Donnai
12:45 13:15   Essentials of Dysmorphology Dian Donnai
13:15 13:45   Common Syndromes Dian Donnai
13:45 14:15   Workshop: How to present a Case Jill Clayton-Smith
14:15 14:45   Coffee break and uploading of participant cases  
14:45 15:30   Craniosynostosis Syndromes Willie Reardon
15:30 16:15   Dysmorphology of the Brain Daniela Pilz
16:15 17:00   Participants’ cases  

Siddharth Banka, Sofia Douzgou & Willie Reardon

17:00     Back to the Chancellors Hotel  
19:30     Evening Meal at the Chancellors  


18/04/2018 Wed 
08:45 09:25   Mosaicism Dian Donnai
09:25 10:10   Chromatin Remodelling Disorders Siddharth Banka
10:10 10.40   Cases and lessons from the medico-legal world Willie Reardon
10.40 11:00   Coffee break  
11:00 11:35   The Eye as a Clue to Diagnosis Jill Clayton-Smith
11.35 12.10   Autoinflammatory syndromes Tracy Briggs
12:10 12:45   Workshop: Syndromic Seizure disorders Jill Clayton-Smith
12:45 13:45   Lunch  
13:45 14:30   First arch and Clefting syndromes Sofia Douzgou
14:30 15:15   Quiz: Limb anomalies  

Jill Clayton-Smith & Sofia Douzgou

15:15 15:45   Interactive Session: What patients have taught me Siddharth Banka
15:45 16:15   Coffee break and uploading of participant cases  
16:15 17:00   Overgrowth Disorders Daniela Pilz
17:00 17:30   Next Generation Sequencing and Dysmorphic Syndromes Bill Newman
17:30 18:15   Participants’ cases  

Jill Clayton-Smith & Dian Donnai

18:15     Back to the Chancellors Hotel  
20:00     Course Dinner at Croma  


19/04/2018 Thu
09:00 09:45   Dysmorphic syndromes with skin tumours Liz Jones
09:45 10:30   Inborn Error of Metabolism and dysmorphology Catherine Breen
10:30 11:00   Quiz – Hair and Nails as Diagnostic Clues Sofia Douzgou
11:00 11:15   Coffee break  
11:15 12:00   Dysmorphic Connective Tissue Disorders Kay Metcalfe
12:00 12:45   Developmental Syndromes with Obesity Kate Chandler
12:45 13:45   Lunch  
13:45 14:30   Syndromes of RAS/MAPK pathway Emma Burkitt-Wright
14:30 15:00   Smart Dysmorphology Sofia Douzgou
15:00 15:45   Participants’ Cases  

Dian Donnai & Daniela Pilz

All Participants and organisers


Scholarship winners