The post Webinar: A Novel Syndrome Associated With Prenatal Fentanyl Exposure appeared first on FDNA™.

• José Elias García Ortiz, doctor en genética humana de México, quien habló sobre las enfermedades no diagnosticadas y su relación con las enfermedades poco frecuentes.
• Pablo Videla Vilá, pediatra del neurodesarrollo argentino y asesor en FDNA, quien explicó el papel de las herramientas de soporte de decisión en las formas del pensamiento médico-clínico y cómo funciona la IA en la aplicación Face2Gene.
• Kelly Franco, médico genetista de Perú, quien presentó tres casos clínicos donde se muestra cómo el criterio médico se fortaleció con Face2Gene utilizando las diversas herramientas que esta ofrece.

A continuación, pueden ver los videos del evento, comenzando con la exposicion de 3 casos clinicos del Peru:

6 minutos – un caso de discapacidad intelectual

6 minutos – un caso de displasia esquelética

5 minutos – un caso de craneosinostosis sindrómica

14 minutos

18 minutos

The post ¿Qué utilidad tiene la IA en enfermedades no diagnosticadas? un seminario web, con casos clínicos appeared first on FDNA™.

The FDNA team is excited to be back at the European Human Genetics Conference #eshg2023, June 10-13 in Glasgow-UK and tell you more about Face2Gene’s Pediatrician View and the new options for case analysis (using the GestaltMatcher technology). To learn more, swing by our booth (#156), or contact us and schedule a meeting with a member of our team. We look forward to seeing you in a few days!

The post FDNA and Face2Gene Featured at ESHG 2023 appeared first on FDNA™.

Check out below the events we will be attending, and if you have any questions contact us to schedule a meeting.

14^th International Congress of Human Genetics – ICHG 2023

FEBRUARY 22-26 CTICC • CAPE TOWN, SOUTH AFRICA

Session 14 – AI-driven next-generation phenotyping: impact on the clinical diagnostic process
Nicole Fleischer
Peter M Krawitz, MD, PhD
Aimé Lumaka, MD
Friday 24 February, 11h-12h30

https://www.ichg2023.com

MENA Organization for Rare Diseases Annual Meeting 2023

3-5 MARCH 2023 MÖVENBICK GRAND AL BUSTAN • DUBAI, UAE

FDNA: artificial intelligence tools in medical genetics and pediatric clinics

Speaker: Karen Gripp, MD, FACMG

Sunday 5 March, 17h30

https://menararediseases.com

ACMG 2023 Clinical Genetics Meeting

MARCH 15-17 SALT PALACE • SALT LAKE CITY, UTAH

BOOTH #1302

https://www.acmgmeeting.net

ESHG 2023, the European Human Genetics Conference

JUNE 10-13 THE SEC -THE SCOTTISH EVENT CAMPUS • GLASGOW, UNITED KINGDOM

BOOTH #156

https://2023.eshg.org

The post Where Can We Meet During 2023 appeared first on FDNA™.

Session Poster – Mendelian Phenotypes Posters – Wednesday
Wed, Oct 26
Conv Ctr/Exhibit/Poster Hall/South Building
3:00pm – 4:45pm  (Pacific)

• 4-years of Face2Gene in a General Genetics Clinic: Insights from Retrospective Analysis of Diagnosed Cases [Board No. PB1723] – Muriello, N. Xiong, D. Basel; Med. Coll. of Wisconsin, Milwaukee
  Speaker: Michael Muriello
  View Session
• GestaltMatcher supports classification of ultra-rare disorders and delineation of novel syndromes by facial phenotype descriptors [Board No. PB3007] – T-C. Hsieh1, A. Bar-Haim2, S. Moosa3
  Speaker: Tzung-Chien Hsieh
  View session
• Vici syndrome in Israel: Clinical and molecular insights [Board No. PB2008] – Pode-Shakked1,2,3, O. Chorin
  Speaker: Ben Pode-Shakked
  View session

Session Poster – Molecular and Cytogenetic Diagnostics Posters – Thursday

Conv Ctr/Exhibit/Poster Hall/South Building
Thu, Oct 27
3:00pm – 4:45pm  (Pacific)

• Is 22q11.2 deletion syndrome truly less common in African American patients? [Board No. PB2319] – McDonald-McGinn1,2, T. Crowley1,
  Speaker: Donna McDonald-McGinn
  View session

Session Platform – Methods and databases: Open, benchmarked and FAIR

Conv Ctr/Concourse Hall F/West Building
Fri, Oct 28
2:00pm – 3:30pm  (Pacific)

• GestaltMatcher Database: A FAIR database for medical imaging data of rare diseases – Lesmann1,2, S. Moosa3, S. Rosnev
  Speaker: Hellen Lesmann
  View session

The post What to do and see at ASHG 2022 appeared first on FDNA™.

Each February, clinical, tech, and advocacy communities around the world pause to reflect on this fact and take time to recognize the strides we’ve made and what is to come in the journey towards ending the diagnostic odyssey.

This year the FDNA team “showed their stripes” at Rare Disease Day events from Boston to Israel. We’re honored to be able to work in a field that can make a real impact on people’s lives and sincerely thank our community of friends and colleagues that have dedicated their lives to benefit the lives of others. We’ve asked a few of them for their thoughts on what Rare Disease Day means to them, and their feedback was both insightful and inspiring:

[Rare Disease Day] is the day I get to celebrate the tremendous gift of being able to work with all the wonderful families in our care. Some have been afforded a diagnosis, others not, but all are equally impassioned to create awareness and enable us to provide the care they need. My mentor once told me, “When you hear hoofbeats, don’t think of Zebras, look for the Unicorns,” but in recent times, I listen for the beating wings of the Caladrius as more treatments become available for orphan disorders. I feel privileged to be a part of their journey and lives.

– Dr. Donald Basel, Medical Director, Genetics Center, Children’s Hospital of Wisconsin

To me, Rare Disease Day is a day where we recognize the determination of our patients and families to remain patient with those of us in the medical field. For many families, it takes years to reach a diagnosis, which can be understandably difficult and exhausting. But even after finding an answer, they are often forced to be the disease expert when interacting with the medical field, especially outside of the Geneticist’s office. This is an added burden that I imagine can be an overwhelming feeling. I am appreciative of these families for their willingness to support each other through phone calls, social media, and family conferences to better help all of our understanding of rare diseases.

– Dr. Dallas Reed, Tufts Medical Center

Rare disease day celebrates the journey of our patients and their families. It highlights their unique abilities and personalities. Rare disease day also shines a light on the need for improved understanding and learning in the medical community, and the need for new diagnostic and treatment options. It is my privilege and honor to work with these dedicated families on improving the life for individuals with rare diseases.

– Dr. Karen Gripp, Chief, Division of Medical Genetics, Department of Pediatrics, A.I. DuPont Hospital for Children

 .      

Thank you to the rare disease community for your work and continued support in advancing precision medicine to end the diagnostic odyssey and improve the lives of those who need it most.

The post A Rare Disease Day Reflection appeared first on FDNA™.

ASHG 2018 | #ASHG18

Exhibitor Education Event | Face2Gene Workshop: Next-Generation Phenotyping Speeds Molecular Diagnostics and Genomic Discovery

Friday, October 19, 12:30 – 1:45 PM
San Diego Convention Center, Room 28E (Upper Level)

Learn about the benefits to clinicians, labs, and researchers of sharing patient phenotype information and Face2Gene analysis with genetic testing labs. The talk will kick off with a guided workshop of the Face2Gene CLINIC application, led by Sarah Savage, MS, CGC, Director of Product Engagement at FDNA. It will then segue into a presentation by Dr. Peter Krawitz about how labs can use this information in their analysis, followed by Dr. Karen Gripp speaking to her use of Face2Gene in research. The talk will wrap up with a Q&A panel— so come prepared with your questions.

Speakers:

• Peter Krawitz, MD, PhD – Director, Institute for Genomic Statistic and Bioinformatics, University of Bonn & Chief Data Science Officer, FDNA
• Karen Gripp, MD – Chief, Division of Medical Genetics, Department of Pediatrics, A.I. Dupont Hospital & Chief Medical Officer, FDNA

*If you haven’t already, sign up for Face2Gene on your computer or by downloading the app on your mobile device for iOS or Android. Use the activation code “ASHG18” to fast-track your verification and be prepared for the workshop portion of the talk.

Learn More About Face2Gene LABS

Accurate molecular interpretation requires comprehensive phenotype data. Visit the FDNA booth (#720) to learn how Face2Gene is a place for clinicians to share, and labs to use structured phenotypic information for NGS analysis.

The benefit to CLINIC users:

• Improved diagnostic yield
• Efficient & secure data sharing
• Better test selection

The benefit to LAB users:

• Improved diagnostic yield
• Streamlined process, saving your time and the clinician’s time

Want to meet up during the conference? Contact success@fdna.com to schedule a meeting.

Meet Our Partners!

Ask how they use Face2Gene’s phenotypic information for improved NGS analysis.

• • Ambry Genetics (Booth #604)
  • Blueprint Genetics (Booth #1528)
  • Centogene (Booth #634)
  • Fulgent Genetics (Booth #840)
  • GeneDx (Booth #309)
  • Greenwood Genetic Center (Booth #317)
  • PreventionGenetics (Booth #907)
  • Variantyx (Booth #525)
  • BioDiscovery (Booth #615)
  • EGL Genetics (Booth #1010)
  • Invitae (Booth #808)
  • PerkinElmer (Booth #944)
  • WuXi NextCODE (Booth #1334)

Plus, visit The Focus Foundation to learn how we are working with advocacy.

POSSUMweb

Dr. Catherine Rose, curator of the POSSUMweb database, will be available to meet at the FDNA booth (#720) throughout the duration of the conference’s exhibit hours. Stop by or contact cathie.rose@vgs.org.au to schedule a meeting if you have any questions or need any tips on how to use POSSUMweb for best results, or just to say ‘hello.’

Opening Network Reception

Wednesday, October 17, 7:00 – 9:00 PM

San Diego Convention Center

ASHG invites you to enjoy an evening of mingling, relaxing, and a little rock and roll. A long day of science deserves a night of fun! As you gather with friends and new colleagues from around the globe, be ready to dance the night away with an encore performance by Ethidium Spill, featuring Francis Collins, Elliott Margulies, and Tony Antonellis. You can find more about the ASHG Opening Reception here.

What To Do & See in San Diego

Visit the San Diego Zoo Click Here to Learn More about San Diego Zoo

Sample local fare at Liberty Public Market Learn More

Explore all of the museums, nature, and sights that Balboa Park has to offer Check here to Learn More about Balboa Park

Soak up the sun at one of San Diego’s famous beaches.

For more ideas, check out The San Diego Tourism Page

We look forward to seeing you soon in San Diego! If you have any questions or want to meet, please contact us at success@fdna.com.

The post What to Do and See at ASHG 2018 appeared first on FDNA™.

By now, AI is so commonplace it’s almost embarrassing if a tech company doesn’t use it. But as much as the sci-fi world likes to pretend otherwise, truly strong general AI is still far away; most AI solutions involve machines programmed for very specific tasks. The most complex systems may conduct many of those tasks, but they’re still not cognitively independent. They still need humans for the most complex problem-solving, and nowhere is that more evident than in medicine.

While computers can far outpace humans as processing and analyzing big data, the human touch is still essential to assessing the whole and achieving larger goals. Educating consumers about the line between man and machine is a crucial part of corporate responsibility in the AI space.

Take for example Face2Gene, FDNA’s flagship suite of phenotyping applications. At best, it suggests ideas that never would have occurred to a clinician. At worst, it can become a crutch. FDNA uses regular “Name This Syndrome” challenges to gamify the use of our tools and to remind users to question AI. Follow your GPS exactly and you might drive straight into a ditch–the same is true for relying too heavily on machine learning in the clinical diagnosis process.

In addition to educating users and consumers about the limits of AI, companies must consider how they can influence society. Will AI be only a tool for the wealthy, the white, and the west? Or can AI level the playing field?

The “garbage in, garbage out” premise applies to inequality as well. “Disparities in, disparities out,” we could say of AI data inputs and resulting analyses. (It’s hard to forget the stories of AI bots or algorithms becoming racist or disturbingly morbid after learning from the masses on Twitter and Reddit.)

In the genomics world, the majority of data comes from patients of European descent. To combat that uneven distribution of data, FDNA has worked diligently to create a global network of users and sites in over 130 countries. We have both a free tool and software as a service. Four years after our product launch, more than 50 percent of the patient data contributed is non-Caucasian. Any AI platform is only as good as what it’s being trained on, so as you might expect, when we feed the system with more diverse data, it becomes more robust.

Of course, the more data a company or tool touches, the more concern users have regarding privacy. Fortunately for FDNA, a byproduct of computer vision is de-identified photos, so we’re able to share the information from the data without actually sharing the data. This allows us to spread the benefits of our insights while still protecting patient privacy.

We as companies in this space can learn from one another how to best protect and serve our users and customers. Precision medicine may be powered by AI, but the best applications of these tools require man and machine.

The post AI in Healthcare: Separating the Hype from the Hope appeared first on FDNA™.

A flock of researchers from around the globe shared their findings in dysmorphology and molecular genetics at this year’s ESHG as a part of FDNA’s corporate satellite talk and various scientific posters.

Karin Weiss (Rambam Health Care Campus, Haifa, Israel) presented her further work on Sifrim Hitz Weiss Syndrome (SIHIWES), a recently described form of syndromic intellectual disability identified through reverse phenotyping.

“When you come to classify the new case, there are some difficulties because the phenotype is not specific enough to make the diagnosis,” she said, adding “in this condition all the variants are missense.”

Weiss attempted to train Face2Gene on known SIHIWES cases and successfully taught the system to separate healthy individuals from those with SIHIWES, although the rate at which the system separates SIHIWES from different syndromes was not statistically significant. However, the system was able to notice the possibility of SIHIWES in two patients whose exome sequencing indicated de novo mutations outside the “hotspot” on the CHD4 gene, leading her to conclude that, “facial recognition can aid in variant interpretation probably by supporting a specific variant, not excluding.”

Antonio Martinez-Monseny, MD, (Hospital Sant Joan de Deu, Barcelona, Spain) reviewed how his team used Face2Gene to test several hypotheses, first training the system on PMM2-CDG with a mean accuracy of about 75 percent when comparing confirmed cases to unaffected controls and diagnosed cases of Angelman syndrome. He confirmed that there is indeed a “face” for the syndrome and that it is recognizable across ages, making it easier for clinicians to diagnose the syndrome at an earlier age and, he said, potentially improving access to therapies.

Peter Krawitz, MD, PhD (University of Bonn, Germany), explained how a web-based filtering and annotation tool, Deep Phenotyping, Deep Learning (DPDL) is powering his Prioritization of Exome Data by Image Analysis (PEDIA) approach with help from Face2Gene.

“DPDL can integrate multiple scores from the molecular and phenotypic level,” he noted. Currently, clinicians can use DPDL via the website, but it will soon be available through Face2Gene LABS as well.

Krawitz, who is also FDNA’s Chief Data Science Officer, emphasized how combining phenotypic and molecular information refines the results either could give alone.

“In a routine setting this will speed up your analysis from maybe several days to several hours,” he said.

Jean Tori Pantel (Charité – Universitätsmedizin Berlin, Germany) demonstrated the RESEARCH application with Face2Gene, which she is using as part of her thesis investigating computer vision applications for recognizing inborn errors of metabolism. Her lab was able to create separate masks (composite facial photos) for types of mucopolysaccharidoses that were previously undifferentiated. In the process, she created cohorts of varying size with and without confounding factors, eventually concluding that the distinguishability of cohorts improves as the cohort sizes increase, although the achievable maximum is still unclear.

Tzung Hsieh (Institute for Genomic Statistics and Bioinformatics, Bonn, Germany), whose poster was nominated for a “Best Poster” award, researched how patients with mutations in similar molecular pathways compare phenotypically.

Idan Menashe, PhD (Ben Gurion University of the Negev, Beersheva, Israel), shared his research on facial dysmorphisms as biomarkers for autism spectrum disorder. Using a cohort of 81 patients at the Negev Autism Center, Menashe and his team used the Face2Gene deep convolutional neural network to evaluate the photos, as well as those of controls, and compare the average faces of the case group and the control group. The groups showed clear separation, with a p-value less than 0.001. His team also evaluated the specific areas responsible for the separation and concluded that the upper facial area (eyes and nose) are most informative to the system.

In addition to these presentations,  Yaron Gurovich,  Karen Gripp, MD,  and Ben Pode-Shakked, MD had scientific posters at ESHG showcasing how Face2Gene can be applied to research and how FDNA is improving the suite of phenotyping applications.

The post FDNA and Face2Gene Featured at ESHG appeared first on FDNA™.

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 data 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, including 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.

The post What to Do and See at ESHG appeared first on FDNA™.