Every time a clinician or health professional inputs a patient photo, our technology converts it into de-identified mathematical facial descriptors (facial descriptors). The patient’s facial descriptor is compared to syndrome gestalts to quantify similarity (gestalt scores) resulting in a prioritized list of syndromes with similar morphology.

A database of diagnosed patients’ facial descriptors worldwide powers Face2Gene so that the more diagnosed cases on our database, the more precise Face2Gene becomes. Read More About Our Technology Here.

That is why it is important to assign the diagnosis to your cases, to help the patient community worldwide to benefit from your experience today in the clinic. How to do it? watch the 1-min-long video:

The post The importance of assigning a diagnosis to your cases appeared first on FDNA™.

Check out all the tutorials available to help you master Face2Gene:

How to Change the View in Face2Gene

Learn how to choose between the Geneticist and Pediatrician views in Face2Gene.

Face2Gene Mobile Demo

The Pediatrician View

The Pediatrician View is a technology recently developed by FDNA and available on Face2Gene that allows physicians to receive guidance on the level of facial dysmorphology a patient may have. This may support the decision to refer the patient for a genetic diagnostic study.

How to use Face2Gene as a Team

Face2Gene is used by both individuals and by teams who manage and share cases as a group. The Face2Gene Teams feature is designed for teams and genetics departments to streamline case and workflow management. If your team would like to use the Teams feature, create your free Face2Gene accounts and contact us at success@fdna.com to set up your team.

How to use the Ultra-Rare and Undiagnosed tab?

Face2Gene now has the GestaltMatcher algorithm for you to match Ultra-rare and Undiagnosed Cases.

Under the Ultra-rare tab, with the new algorithm GestalMatcher, the patient’s photos are matched to a molecular diagnosis even when the disorder was not part of the DeepGestalt (Rare Tab) training set.

Similarities among patients with previously unknown disease genes can also be detected, and these are displayed in the Undiagnosed tab. If a patient can be a possible match, you can connect to the clinician.

Assigning a diagnosis in Face2Gene

Assigning a diagnosis to your cases, helps the patient community worldwide to benefit from your experience today in the clinic.

Sequencing Upfront

In just one click, find the geno/ phenotype correlation for your patient. Search for a specific gene:

Or look up the top genes within Face2Gene results.

Instantly extract features from a dictated clinical note

No time to write the clinical note? Simply say it, and it will be written down. By clicking “Extract Features”, the relevant traits/features (HPO terms) will be suggested for you to add to your patient’s analysis. Coming soon to your mobile app.

View a Graphical display of your patient’s top syndrome-matches  

What syndromes clusters are close to my patient? This graphical view provides a t-SNE visualization: a 2D projection of your case in the Clinical Face Phenotype Space as compared to the top-10 syndromes analyzed in Rare and Ultra-Rare. Check this Nature publication for more information

Sort syndrome-matches by facial analysis only

Sometimes we need to analyze results based on their source:  the facial photo or the patient’s clinical features? This new sorting capability allows you to do just that,  By unclicking, the combined results will return.

Add facial analysis to your London Medical Database (LMD) results

Conducted an extensive feature search in LMD and now wonder what the facial analysis would add to the results? Now it is possible. After using the advanced search- capabilities of the LMD Library, you can now simply add a photo by exporting the search criteria used. More info on LMD.

Face2Gene Clinic Overview

New to Face2Gene on the web?

Signing In | Case List | New Case | Add Features | Extract Features | Feature Meter | Share Phenotype

The post All the tutorials available to help you master Face2Gene appeared first on FDNA™.

Consulte los tutoriales disponibles para ayudarle en la clínica:

Marcar un diagnóstico a tus casos ayuda a la comunidad de pacientes en todo el mundo a beneficiarse de tu experiencia hoy en la clínica. ¿Cómo hacerlo? Mira el video de 1 minuto.

¿Cómo usar el Face2Gene en mi pantalla web?

¿Cómo usar Face2Gene en mi teléfono móvil?

¿Que es el Pediatrician View?

Dr. Pablo Videla habla sobre el nuevo Pediatrician View, una tecnología recientemente desarrollada por el FDNA inc. y disponible en Face2Gene que permite a los médicos recibir una guía sobre el nivel de dismorfología facial que puede tener un paciente. Esto puede apoyar la decisión de derivar al paciente a un estudio de diagnóstico genético.

Mas tutoriales

The post ¿Quieres dominar el uso del Face2Gene? Ver tutoriales appeared first on FDNA™.

Confira os tutoriais disponíveis para ajudar a dominar o Face2Gene:

Visão Geral do Face2Gene Clinic

Novo no Face2Gene pelo desktop?

Iniciar sessão | Lista de Casos | Novo Caso | Adicionar Características | Extrair Características | Medidor de Características | Compartilhar fenótipo

Face2Gene Celular Demo

O Pediatrician View

O Dr. Pablo Videla fala sobre o novo Pediatrician View, uma tecnologia recentemente desenvolvida pela FDNA Inc., e disponível no Face2Gene, que permite que os médicos recebam orientação sobre o nível de dismorfologia facial que um paciente pode ter. Isso pode apoiar a decisão de encaminhar o paciente para um estudo de diagnóstico genético.

The post Quer dominar o Face2Gene? Veja os tutoriais disponíveis appeared first on FDNA™.

The post O Pediatrician View em português, por Dr Pablo J. Videla Vilá appeared first on FDNA™.

The post Pediatrician View en español, por el doctor Pablo Videla appeared first on FDNA™.

By ALEXIA COLUMBA JEREZ

Published by ABC News (Spain). Read the original article here.

Recognizing the face of the disease is the idea behind Face2Gene. An application of facial biometrics to diagnose rare genetic diseases. Stefanie Eichner, a member of Face2Gene, confirms that “of the more than 7,000 known genetic disorders”, her company estimates that half are associated with a distinctive facial feature that can be learned and used for diagnosis. These physical traits are called ‘facial gestalt’, the recognizable physical pattern of a genetic syndrome. And not only would it be useful for the theme of rare diseases, but Face2Gene’s technology can help diagnose neurological and developmental disorders. And in the future, experts establish that it could also detect genetic errors, which lead to some types of cancer and autism.

“When you have a child who is different and you don’t have answers to give, and people look at you to ask you more questions, all you can say is ‘We don’t know.’ And then they leave.”

Mother of child with a genetic disease

This is an artificial intelligence that uses the patterns provided by the portraits to develop possible conclusions and provide a list of likely options. Because there are diseases that are identifiable on the face. And thus avoids the patient having to go through an odyssey for his or her diagnosis, often caused precisely by suffering from a disease difficult to recognize. This application in a few minutes allows, so to speak, ‘diagnose by the face’.

Eichner explains that Moti Shniberg co-founded Face.com, a facial biometrics platform that, as of 2011, recognized more than 18 billion faces on social media and the web. “After selling it to Facebook in 2012, Shniberg and Dr. Lior Wolf focused the powerful image analysis capabilities on one of the most important problems in healthcare and co-founded FDNA. Today, it is the AI-powered global leader to aid in the diagnosis of genetic and developmental disorders.

Antonio Martínez Monseny, paediatrician and clinical geneticist at SJD Barcelona Children’s Hospital, who uses Face2Gene, explains that it is a free digital application to which you can register by having a corporate email from a health centre, and which serves to help doctors and other healthcare professionals who see patients with suspected rare diseases in their consultation.

Basically, it states that you have to enter a frontal photo, with the consent of the family or the patient, and then the platform screens the information. And it gives you a list of syndromes with similar values, in order, based on which ones have the best chance of being the right candidate. It is like an ordered differential diagnosis and serves in turn to train the clinical eye of the doctor.

Diagnostic Odyssey

Rare and ultra-rare diseases often attract little investment for drug research and studies, so Face2Gene is a powerful diagnostic tool. The European Union defines any disease that affects fewer than 5 people per 10,000 inhabitants. 65% of those, according to the WHO, are serious, and one in five patients suffers from chronic pain. And studies by the Spanish Federation of Rare Diseases (FEDER) indicate that the average time to access diagnosis in Spain is more than 4 years, and 20% can wait more than a decade.

Something similar happened to Keegan Battavio, a nine-year-old boy whom his mother began to detect that something was wrong. All the development milestones the children achieved as they grew up were delayed in Keegan, from speech to physical activities. The doctors his parents consulted didn’t come up with the correct diagnosis until they saw a geneticist and Dr. Karen Gripp, also FDNA Chief Medical Officer. Using the Face2Gene application, in a few minutes, the results collated suggested that Keegan suffered from Smith-Lemli-Opitz syndrome, a developmental disorder that affects learning and behavior, and occurs in one in 40,000 people.

Another example available to FDNA is that of Glenn Maughan, who took ten years to discover that he has KBG syndrome at the age of 12, and “was the answer to numerous questions that his parents, Annette and Glenn, had been asking for years: Why does he have so many seizures? Why is his gait so unusual? Can you hear us? Why did he start losing some of the early skills he had already acquired?” “Early diagnosis would have helped us a lot,” said Glenn’s mother, Annette Maughan.

At the age of 3, he had his first seizures, followed by another four in the following months. It was the beginning of countless consultations. Epilepsy and autism were considered until finally they found the answer: KBG syndrome, caused by a mutation of the ANKRD11 gene, and is associated with developmental delays, cognitive disabilities, behavioral disorders, autism, seizures, hearing loss, skeletal abnormalities, and cardiac complications. “When you have a child who is different and you don’t have answers to give, and people look at you to ask you more questions, all you can say is ‘We don’t know.’ And then they leave,” Annette told FDNA.

Montseny points out that he sees Face2Gene as especially useful for beginners doctors, pediatricians or geneticists to help them know and recognize genetic syndromes. “It’s faster than asking for an undirected global study. It helps you shorten the time to diagnostic suspicion and better direct your conclusions.”

Unbeatable in its genre

In that sense, Face2Gene’s strength for Eichner is that this first-of-its-kind platform helps researchers accumulate an ever-growing dataset. “Over the past ten years, FDNA has created a database covering 5000 disorders and diseases, working with researchers, clinicians, and geneticists. 1,500 of these can be detected using only our image analysis algorithms,” she says.

A Nature Medicine study shows that in 91% of cases, the correct syndrome was among the answers provided by Face2Gene. Montseny clarifies that it depends a lot on the quality of the photo, the age of the child, and thirdly on how many striking features the child has. And last and very important, if the platform is trained to recognize that genetic syndrome.

Face2Gene is useful especially for children aged 5 years and adults. However, some genetic syndromes have been trained to recognize them in newborns younger than 2 years. In fact, Montseny was one of those who helped train the platform in this regard. And he points out that his database of all patient photos is not comparable to any other.

As the geneticist points out, it is also used for double diagnoses, children who have two genetic syndromes. “This is rare, but we have several patients in the hospital who are examples of this, and Face2Gene helps recognize the second case.”

One step further

Added to this is a new Face2Gene algorithm introduced in February, which does not try to identify the specific disorder, but the similarity of a face with that of other patients suffering from the same disease. This was confirmed by the case of two children, one from Germany and one from Norway, who, despite having different ethnic features their had similar faces. In this way, it was possible to use a facial algorithm to identify a specific condition when the training data available to the AI is small.

The  AI creates an anonymized mask that is the sum of all patients with the same disorder, with the help of AI. However, Montseny adds that it would be ideal if it were an application that also allowed you to enter data from genetic studies, all in one or make family trees. “And if Face2Gene is so called because it goes from the face to the gene, it could also be applied not only to the face, but to the body, as if it were a  ‘Physical2Gene’ to recognize other physical traits that can guide us,” he says.

In the end, applications such as Face2Gene show that with the help of technology, the phrase “the face is the mirror of the soul and the eyes, its interpreters”, becomes more true.

The post Spanish press highlights Face2Gene AI Technology that helps detect rare syndrome using a patient’s photo appeared first on FDNA™.

Using Face2Gene as a TEAM allows you to securely share cases and analyze them together with your colleagues while considering the different analyses the tool offers. This means that for every case, you can decide whether it is a case to share (TEAM CASE) or your own case, only visible to you (MY CASE). Cases are automatically assigned to the person who created the case, but they can easily be assigned to someone else on your team at any time. That person will get an email notifying them that a case has been assigned to them.

In addition, having all your team’s cases together will enable you to view matching patients from your teams,  to select cases from the whole team in order to build cohorts for comparison in the RESEARCH app, and to create a report of your team’s typically used clinical features.

In summary, team members can:

• Easily access and review past cases seen by your team based on diagnosis, features, or patient matching
• Each performs their step of the patient evaluation and assigns the case to a colleague to continue patient management review
• Analyze patients with other team members – for instance, at the weekly board review
• Teams can use Face2Gene as their genetic data repository
• Compare each new case to all relevant past team cases, leveraging cumulative knowledge

Find out more on the video bellow or contact support@fdna.com for a demo.

The post Use Face2Gene as a Team appeared first on FDNA™.

With exome and whole genome tests becoming more available and affordable, this gene search can help MDs make sense of the lab results that often return many possible gene-mutations without clear pathogenicity.

In just one click, find the geno/ phenotype correlation for your patient. Search for a specific gene:

Or look up the top genes within Face2Gene results.

The post Are you sequencing upfront? appeared first on FDNA™.

Instantly extract features from a dictated clinical note

No time to write the clinical note? Simply say it and it will be written down. By clicking “Extract Features”, the relevant traits/features (HPO terms) will be suggested for you to add to your patient’s analysis. Coming soon to your mobile app.

View a Graphical display of your patient’s top syndrome-matches  

What syndromes clusters are close to my patient? This graphical view provides a t-SNE visualization: a 2D projection of your case in the Clinical Face Phenotype Space as compared to the top-10 syndromes analyzed in Rare and Ultra-Rare. Check this Nature publication for more information

Sort syndrome-matches by facial analysis only

Sometimes we need to analyze results based on their source:  the facial photo or the patient’s clinical features? This new sorting capability allows you to do just that,  By unclicking, the combined results will return.

Add facial analysis to your London Medical Database (LMD) results

Conducted an extensive feature search in LMD and now wonder what the facial analysis would add to the results? Now it is possible. After using the advanced search- capabilities of the LMD Library, you can now simply add a photo by exporting the search criteria used. More info on LMD.

The post What’s new in Face2Gene? appeared first on FDNA™.