What to Do and See at ESHG

The European Society of Human Genetics (ESHG) 42nd Annual  Meeting 2018

MiCo – Milano Congressi · Milan, Italy · June 16-19, 2018

Milan, Italy –  I don’t know about you, but here at FDNA, we are extremely excited for an action-packed week full of presentations, posters, meetings and, of course, gelato! Take a look below at our top picks of what to do and see at ESHG. Interested in scheduling a meeting with a member of our team? Contact us! Or stop by our booth (#338) during exhibition hours to learn more about Face2Gene.

ESHG 2018 | #ESHG2018

Workshop, Presentation & Lunch…

Face2Gene: Linking the Phenotype & Gene Variants to Speed Discovery & Diagnosis

Sunday June 17 | 11:15-12:45PM | Amber 2 Room

Presented by:

Peter Krawitz, MD, PhD, University of Bonn, Germany & FDNA
Utilizing Face2Gene in the clinic & laboratory

Karin Weiss, MD, Rambam Health Care Campus, Haifa, Israel
Utilizing facial recognition software in individuals with Sifrim Hitz Weiss Syndrome

Antonio Martinez-Monseny, MD, Hospital Sant Joan de Deu, Barcelona, Spain
PMM2-CDG patients gestalt: is recognizable enough?

Jean Tori Pantel, Charité – Universitätsmedizin Berlin, Germany
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism

Idan Menashe, PhD, Ben Gurion University of the Negev, Beersheva, Israel
Facial dysmorphisms as biomarkers for autism spectrum disorder

Tzung Hsieh
Exploring molecular interactions by clustering analysis of similarity scores from next-generation phenotyping approaches

The first part of this session is a hands-on exercise to analyze two cases with your own Face2Gene account from your mobile phone or laptop. Please make sure to download Face2Gene and register for an account ahead of time.

Elements of Morphology (EOM) booklets will be handed out & lunch will be served.

…Plus check out these other posters

Yaron Gurovich
P14.037A / A  – DeepGestalt- using deep learning to detect rare genetic syndromes from facial phenotype

Karen Gripp, MD
P14.003C / C – Training a Facial Analysis Software to Recognize a Very Rare Condition: Aymé-Gripp Syndrome

Ben Pode-Shaked, MD
P06.47C / C  -Common facial phenotype of patients with Mucolipidosis type IV: a clinical observation reaffirmed by facial dysmorphology novel analysis technology

Join us for a guided tour of all of these posters (starting point is Face2Gene booth #338)

Saturday, June 16 | 4:00 – 4:30 PM
Monday, June 18 | 10:30 – 11:00 AM & 5:00 – 5:30 PM

DEMO – Face2Gene Labs at WuXi NextCODE: Phenotyping for Improved Variant Prioritization

Sunday June 17 | 2:30-3:00PM | FDNA Booth #338

Presented by: Irene C. Blat, Ph.D., Scientific Director of Translational Genomics, Wuxi NextCODE
See how WuXi NextCODE has integrated with Face2Gene LABS, enabling advanced interpretation of genomic date using next-generation phenotyping (NGP)

Diagnostic Dilemmas Session

Sunday June 17 | 3:00-4:30PM | Gold Room

Organized and moderated by: Sofia Douzgou and Peter Krawitz
The workshop focuses on complex cases with facial dysmorphic features, included undiagnosed and diagnosed cases which are particularly educational and demonstrate new clinical information. Starting Saturday, interested attendees can submit cases to the ESHG 2018 Dysmo supported by NGP Forum. To access this forum, please approach the FDNA booth (#338) to receive the password. You can also bring your case in any format to Gold Room starting at 2:30 before the session begins. All participants are invited to use the ESHG 2018 Dysmo supported by NGP FORUM to post comments for each case to be discussed during the session.

• Download Face2Gene ahead of time for free at the iOS or Google Play store.  Follow the instructions to access the ESHG 2018 Dysmo supported by NGP forum. Retrieve the access code at the Face2Gene booth (#338).
• Join the session from your computer, tablet, or smartphone. https://www.face2gene.com/eshg2018/

NAME THIS SYNDROME

The Disease Recognition Game

Get started with NAME THIS SYNDROME by visiting us at booth #338. Use the given patient information and clues collected from partner booths to determine a potential diagnosis for your patient, with the help of Face2Gene. Once you have gathered all of your clues from partners, return to the Face2Gene booth to retrieve your final clue, make a diagnosis and collect your prize (while supplies last)!

Our NAME THIS SYNDROME Partners

• BioDiscovery
• Blueprint Genetics
• SOPHiA GENETICS
• Variantyx
• Centogene

• Limbus Medical Technologies

POSSUMweb Office Hours

Visit Dr. Catherine Rose, the curator of the POSSUMweb database, at the FDNA booth (#338) during the designated times below. You may have a question or need some tips on how to use POSSUMweb for the best results, or just want to say ‘hello.’ If the times below do not suit you and you would like to catch up, send an email to cathie.rose@vcgs.org.au to schedule a meeting.

Saturday, June 16 | 1:00 – 2:00 PM
Sunday, June 17 | 10:30 – 11:00 AM & 12:00 – 1:00 PM
Monday, June 18 | 10:30 – 11:00 AM & 12:00 – 1:00 PM

Face2Gene Demos at Booth #338

English

Any time the exhibit hall is open— stop by!

Spanish

Saturday, June 16 | 1:30 – 1:45 PM
Monday, June 18 | 11:30 – 11:45 PM

Italian

Saturday, June 16 | 1:45 – 2:00 PM
Monday, June 18 | 11:45 – 12:00 PM

Russian

Saturday, June 16 | 4:14 – 4:30 PM
Monday, June 18 | 11:15 – 11:30 AM

What To Do & See in Milan

Do some vintage shopping in the fashion capital at Ambroeus Milano

Indulge in some gelato from II Massimo del Gelato

Need more ideas? Check out 36 Hours in Milan, The 20 Essential Things to Do in Milan & more for inspiration.

We look forward to seeing you tomorrow in Milan! If you have any questions leading up to the conference or would like more details on any of our activities, please contact us at marketing@fdna.com.