The Age of AI

AI is a disruptive force in healthcare and is key to the future of precision medicine, but not without its pitfalls. As the saying goes—“garbage in garbage out”—rings true for the data inputs and outputs in AI solutions, and as addressed in The Wall Street Journal, “the need to amass sufficient training data is another limiting factor,” but it’s one that FDNA has already overcome.

FDNA’s flagship suite of products, Face2Gene, uses AI and NGP technologies (primarily DeepGestalt) to capture a variety of real patients’ phenotypic data from clinicians and link them to possible genetic variants that cause disease. Currently, 70% of the world’s geneticists, from over 130 countries are using these FDNA’s NGP technologies clinically, in addition to a large body of researchers, drug developers, and genetic testing labs working, collectively, to find answers and treatments for hundreds-of-millions of patients globally.

The Power of NGP 

Genomic analysis is becoming the clinical standard in diagnostic evaluations due to its ability to cover thousands of biomarkers for diseases that are otherwise difficult to diagnose accurately and timely. The diagnostic power of such tests, however, is limited by the ability of clinicians to interpret the complex and overwhelming quantity of data generated through genomic sequencing.

Harnessing Microsoft’s cloud computing power and best practices variant analysis pipelines with FDNA’s NGP technologies allows for a deeper level of evaluation and understanding, and accurate results with fast turn-around times. NGP technologies aid in the translating of all relevant phenotypic data into actionable health insights significantly over any existing framework.

In the future, every person’s genome will serve as their medical record to guide health decisions. “The world is moving towards consumer genomics and precision medicine,” said Dekel Gelbman, CEO of FDNA. “Phenotyping using NGP technologies will help patients and their caregivers better understand their health and allow for more individually-tailored care plans and management—this is our role in the future of precision medicine.”

NGP as a Service

FDNA and Microsoft Genomics are working together to make NGP technologies available outside of Face2Gene to benefit a broad spectrum of life science companies. Studies have shown that when NGP technologies are combined with NGS analysis tools, the correct diagnosis ranks top 10 98% of the time, compared to the typical 41%, using NGS analysis data alone.[1]

NGP technologies have already been used to evaluate over 100,000 patients, and as this number continues to grow rapidly, FDNA expects to reach the one million patients mark over the course of the next couple of years.

Trent Norris, Senior Program Manager at Microsoft Genomics, added, “This collaboration with FDNA enables our healthcare customers to bring phenotypic and genotypic machine learning services to their front-line healthcare teams. Microsoft is honored to provide the secure, compliant infrastructure and supporting tools that are needed to handle these data-rich workloads. FDNA’s and Microsoft’s missions to unlock biological insights, find answers, and treatments bring us all closer to a more personalized ‘healthcare’ versus ‘disease care’ ecosystem.”

Clients interested in improving their genomic analysis pipelines can reach out to FDNA to learn more about how to integrate NGP technologies into their platforms. 

[1] These studies were limited to cohorts of patients affected by monogenic disorders with unique facial attributes.

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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.

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Dr. Carey. a highly-practiced clinician, currently at the University of Utah’s Department of Medical Genetics, kicked off the webinar with a comprehensive background on phenotyping, including a discussion of the important role phenotyping plays in the process of diagnosing a patient.

Dr. Carey noted colleagues’ worries that there would be a decline of phenotypic analysis as next-generation sequencing (NGS) rises in popularity and accessibility, but went on to agree with the sentiments from a 2012 paper by Hennekam & Bisecker that, in fact, this new era of genome sequencing has led us to enter a “new epoch of phenotyping.” Rather than replacing the need for phenotyping, NGS has instead led to a new way of phenotyping.

Over the last few years, Dr. Carey noted there has been a “proliferation of resources which speaks to this notion of deep phenotyping.” Among such resources is FDNA’s Face2Gene technology. Using case studies as examples, Dr. Carey demonstrates the benefit Face2Gene can play in picking up on subtle facial patterns and, in turn, deciding on testing.

“We [clinicians] would benefit by having expanded knowledge and tools truly at our fingertips, but there is no question that the patients will benefit with the increased chance of making a diagnosis, or at least helping us in our genome analyses”

Dr. Stanley built on this point by sharing insights into the importance of phenotyping from a lab perspective. Drawing on her extensive background, most recently as the Head of Clinical Labs, US at WuXi NextCODE, Dr. Stanley was able to provide a thorough look into what exactly is required for a successful genetic test. Previously, phenotypic information was not required when ordering testing, but now, “the justification for testing is dependent on a complete and accurate clinical intake.”

According to Dr. Stanley, the clinical phenotype is very important as a line of evidence in variant classification. She goes on to say that “the more limited the phenotype, the greater the risk the disease causing variant will be filtered out of the data set.” In order to avoid the accidental omittance of the causal variant from the report, Dr. Stanley suggests increasing the use of the PP4 line of evidence—which is associated with the patient phenotype—in testing, possibly by way of tools that help to incorporate phenotypic information into clinical reports.

“The phenotypic information combined with the gene sequence information is a powerful combination.”

According to Dr. Stanley, with the use of FDNA’s Face2Gene technology, a “dynamic feedback loop of clinical symptoms & genomic information can be achieved,” which leads to improved variant prioritization and speedier diagnosis. Ultimately, Dr. Stanley summarized that “phenotyping is critical for diagnostics and diagnostics are critical for patient management.”

“Every aspect of healthcare can be impacted by understanding the phenotype.”

Listen in as Dr. Carey and Dr. Stanley share their respective clinical and lab perspectives about genomic medicine and NGS ushering in a new era of phenotyping.

Continue the Discussion With These Thought Leadership Talks at ACMG

Visit FDNA (Booth #1015) to learn more

Delineating Genetic Syndromes and Next-Generation Phenotyping

John C. Carey, MD, MPH
Professor, Department of Pediatrics, University of Utah
Emeritus Editor in Chief, American Journal of Medical Genetics
Thursday, 4/12 10:15AM

Face2Gene RESEARCH for Deep Phenotyping of Novel Syndromes

Karen Gripp, MD
Chief, Division of Medical Genetics, A.I. DuPont Hospital for Children
Thursday, 4/12 11:30AM

Face2Gene LABS at WuXi NextCODE: Phenotyping for Improved Variant Prioritization

Christine Stanley, PhD, FACMG
Head of Clinical Laboratory, US, WuXi NextCODE
Medical Director, QNA Diagnostics
Thursday, 4/12 3:45PM

Next-Generation Phenotyping in the Era of Next-Generation Sequencing

Dekel Gelbman
Chief Executive Officer, FDNA
Friday, 4/13 10:15AM

The post Redefining Phenotyping for Clinical Advancements and Variant Prioritization appeared first on FDNA™.

HIMSS Conference, Microsoft booth

Thursday, March 7 3:40 PM PST

Las Vegas, Nevada

As over 40,000 health IT professionals, clinicians, executives, and vendors from around the world gather at this year’s HIMSS Annual Conference & Exhibition, speaker Anthony Antonuccio, VP of Product at FDNA shares FDNA’s experience with one of the leading clinics, Greenwood Genetic Center (GGC) in his talk, Precision Medicine Through Next-Generation Phenotyping—A Customer’s Journey. Discover how integration of FDNA’s facial analysis technology into GGC’s genetic evaluation workflow has led to the expansion of knowledge around countless rare diseases by the evaluation of over 40 years of data and over 40,000 patients seen.

FDNA’S Face2Gene TECHNOLOGY

FDNA is the developer of Face2Gene, a clinical suite of phenotyping applications that facilitates comprehensive and precise genetic evaluations. Precision medicine aims to personalize healthcare, factoring in individuals’ traits—genetics, lifestyle, etc.—to develop targeted approaches to diagnosis, treatment, and prevention for patients. Face2Gene uses facial analysis, deep learning, and artificial intelligence to transform big data into actionable genomic insights to improve and accelerate diagnostics and therapeutics. With the world’s largest network of clinicians, labs, and researchers creating one of the fastest-growing and most comprehensive genomic databases, FDNA is changing the lives of rare disease patients. For more information, visit www.FDNA.com.

GREENWOOD GENETIC CENTER

The Greenwood Genetic Center has recently partnered with FDNA to collaborate using next-generation phenotyping technology, Face2Gene. With the aid of FDNA’s facial analysis and artificial intelligence technology, analysis of nearly 80,000 cases from Greenwood Genetic Center will contribute to the ever-expanding database of rare disease information. With the large influx of cases from GGC now analyzed by Face2Gene, insights for a myriad of undiagnosed patients and syndrome-related features have contributed to advancements in the research of rare diseases. For more information, visit www.GGC.com.

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In a packed auditorium at Mexico City’s CENTRO University, FDNA’s Senior Director of Marketing, Jeff Daniels, announced the launch of the Genomics Collaborative. This initiative prompts clinicians, patients, advocates and researchers to join forces in an effort to accelerate breakthroughs in precision medicine. The Genomics Collaborative allows participants to access FDNA’s deep learning and next-generation phenotyping (NGP) technology to conduct research for the benefit of patients and health care practices.

Leaders and innovators from around the globe were gathered to learn about breakthroughs from the creative visionaries behind them at the Demand Solutions summit. Hosted by the renowned Inter-American Development Bank (BID), CNN and Entrepreneur Magazine, the event drew over 500 leaders and innovators and showcased thought leaders from startups, including Airbnb and several wearable technology and gaming companies.

During his presentation, Daniels highlighted FDNA’s use of artificial intelligence and facial analysis technologies to help patients around the world. Using the Yellow Brick Road Project’s “Morgan’s Story,” as a backdrop, Daniels shared how the struggle of two little girls and their families is faced by millions of people globally when searching for medical answers.

“With FDNA’s strength being in pattern recognition and artificial intelligence, we thought others might want to access our technology to support their research efforts as well. That’s why we are launching the Genomics Collaborative and announcing projects with hospitals, labs, countries who have genomics projects, patient advocacy groups, and dozens of other types of researchers, just like Morgan and Lillie’s group, the Yellow Brick Road Project. We intend to expand use of this technology to every disease, and to phenotypes beyond facial analysis—like voice, video, metabolites, analysis of clinical notes, and more.”

As part of the Genomics Collaborative, FDNA works with partners to design the future of health, together. By compiling and analyzing case data, such as patient photos, biometric data, clinical notes and disease history, scientists will be able to make breakthroughs in disease understanding. Unlocking the secrets to our genetic makeup is the key to a healthier world. By uncovering the genetic components of diseases, we can shorten the diagnostic odyssey, enable greater and earlier recognition of these conditions in the medical community, and lead the way to more personalized and effective therapy.

Daniels discussed FDNA’s accomplishments over the past few years in this space.

“This is Face2Gene,” said Daniels, as he shared a photograph of a doctor scanning a patient with her mobile phone. “Face2Gene is for healthcare providers, and it works on any computer, tablet or mobile device […] A doctor can take a photo of her patient, or list other patient features, and Face2Gene will produce a list of relevant diseases for the doctor to consider. For thousands of diseases, the technology can provide meaningful insights before symptoms even begin.”

“What’s more,” Daniels continued, “Face2Gene learns from diagnosed cases from its users, getting smarter every day. It’s called deep learning technology. Doctors from over 2,000 institutions in 130 countries worked to train this technology, including hundreds here in Mexico. It already recognizes features and genetic data for over 10,000 diseases.

“Instead of waiting years to get a diagnosis, like Morgan and Lillie did, like many of you or your loved ones have, doctors can tap into the collective experience of thousands of doctors globally to facilitate personalized medicine, getting us answers sooner.”

Get Involved. Join the Genomics Collaborative>>

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I spoke with Elizabeth Wilder, Ph.D., about the potential impact of gene editing on healthcare. Dr. Wilder is the Director of the NIH office that oversees the NIH Common Fund, which supports the new program on Somatic Cell Genome Editing.

“Currently, even when we can find a root cause for a patient’s disease, usually we can’t fix the problem at its source,” said Dr. Wilder. “Advancements in genome editing technologies could lead to therapies that would offer patients more permanent solutions.”

While FDNA isn’t in the business of gene editing, next-generation phenotyping technologies, which power our Face2Gene application, can help doctors analyze patients’ clinical features and aid in the identification of disease-causing gene variants that may be good targets for gene editing. Take, for example, Fabry disease, a progressive, X-linked disorder. In Fabry patients, a single gene is responsible for an enzyme deficiency that causes pain and often renal failure.

If gene editing could address that error, it is possible that patients could really benefit. There is even recent work beginning with that goal, right here in Boston. But before gene editing can work its magic, clinicians need to know what disease they are treating. Fabry patients, like thousands of other patients with genetic diseases, have very long diagnostic odysseys; with an average of 10 years between symptom onset and diagnosis.

Next-generation phenotyping can speed this process along, making it easier for doctors to hone in on specific gene variants responsible for a patient’s symptoms. It helps clinicians get to the root of symptoms and diagnose patients sooner. Once the pathogenic gene variant is identified, doctors and patients are armed to make more informed and proactive decisions about management and possible treatment options.

Recent advances in genome editing technology, including the hot-button CRISPR/Cas9 technology, have made precise DNA editing possible in live cells. This program focuses specifically on somatic (non-reproductive) cell editing, which means any therapeutic changes to the disease-causing DNA will not be passed on to future generations—an important consideration for gene edits that could benefit the patient, but might harm potential offspring.

Funding opportunities are due in April and are available here; they range from improved animal models for assessing genome editors to a Dissemination and Coordinating Center for online information-sharing. The NIH is hosting a webinar on February 16th for potential applicants.

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Advocacy: “Nobody needs to wait a single moment before starting to improve the world.”

Every month during the 2017 Year of Discovery, clinicians, labs and patients focused on a specific disease category to build a repository of rare disease “big data.” Sponsors including GeneDx and Blueprint Genetics helped drive patient case uploads by matching each case loaded with a charitable donation to patient advocacy charities. As a result of the increased community support, Face2Gene improved its recognition and understanding of the phenotype of dozens of diseases, including Sanfilippo Syndrome and a variety of craniosynostoses.

The Year of Discovery launched on 2017’s World Rare Disease Day. Look out for another exciting announcement during this year’s February 28 event.

Integrations: Better together

Across the globe, genetics labs including Ambry Genetics, GeneDx and Blueprint Genetics are integrating Face2Gene into their workflow. With the addition of these labs, over 70 percent of clinical geneticists worldwide are able to harness the power of artificial intelligence and computer vision to highlight genetic variants correlated with underlying diseases, increasing the diagnostic yield of genetic testing for their patients. Dramatically, we should say: preliminary results from the PEDIA study indicate adding phenotypic data and facial analysis can triple the diagnostic yield from genetic sequencing alone, in some cases.

We’re building relationships internally, too: in 2017, the FDNA Team grew by 23 people, full and part time, magnifying the human brain power behind the Face2Gene AI.

Product expansion: Suite, suite progress

These integrations are made possible by the latest additions to the Face2Gene suite. Genetics labs can use Face2Gene’s new LABS capability to securely transmit next-generation phenotyping and facial analysis insights directly into the molecular interpretation pipeline to increase diagnostic speed and accuracy.

Using the Face2Gene RESEARCH app, clinicians can use de-identified information to create cohorts and test hypotheses. Many abstracts and publications are resulting.

In the News: Our ears are burning

Artificial intelligence has been a hot topic in the news this year. Cygnis Media highlighted a range of ways machine learning and artificial intelligence are changing modern medicine, from personal trainers in biosensing earbuds to eye-tracking technology that can identity Autism Spectrum Disorders early. A special edition of TIME investigated advancements from smart-home thermostats to self-driving cars, and even how etiquette changes when we interact with machines.

FDNA found itself mentioned in dozens of high-profile articles, including the cover story of Fortune’s future issue, The Doctor Will See You Now, and the Economist’s September issue, What Machines Can Tell From Your Face. WIRED called Face2Gene “a breakthrough method… the most promising to deliver AI’s 50-year-old promise to revolutionize medicine.”

Partnerships: Left side, strong side

FDNA’s network of databases, researchers, and clinicians continued to grow this year. POSSUMWeb, a leading dysmorphology database, announced in October that it would partner with FDNA for integration and distribution of its over 40,000 images through Face2Gene LIBRARY. The Greenwood Genetic Center (GGC) announced its intention to analyze thousands of undiagnosed cases with Face2Gene, with the goal of finding new leads for unsolved cases. And at the end of 2017, Vanderbilt University Medical Center announced their use of Face2Gene as part of the NIH Undiagnosed Disease Network.

FDNA partnered with Cincinnati Children’s Hospital and used photos of patients with confirmed PACS1 diagnoses to train Face2Gene on disease-related features and as a result, the system reached 96 percent performance.

Future Plans: To boldly go

With all this momentum, FDNA is excited to launch a new effort to use FDNA’s artificial intelligence and deep learning technology to develop precision medicine approaches for diagnosing and treating disease. Details to come on World Rare Disease Day.

The post 2017 Year in Review appeared first on FDNA™.

At this year’s 22nd Annual Drug Delivery Partnership meeting, a new approach to the pharma value chain is in discussion. Speaker Barry Frankel explores the power of precision medicine for pharma in his talk, Enabling Drug Development: Artificial Intelligence, Phenotypes and Genomics Integrated for Precision Medicine. Precision medicine aims to personalize healthcare, factoring in individuals’ traits—genetics, lifestyle, etc.—to develop targeted approaches to diagnosis, treatment, and prevention for patients.

The incorporation of genomic information into pharmaceutical development is on the rise; Frankel highlights that genomics adoption is now faster than Moore’s Law*. However, the industry is still facing barriers to full-on adoption. Drugs based on genetic targets have a success rate 1.5-2X better than their counterparts that don’t include genetic information, but identifying the genetic variant causing a disease is like trying to find a needle in a haystack.

In steps FDNA and their deep learning technology. The technology captures physiological information, biometric data—such as facial photos—and clinical notes, curated in a proprietary database, to identify disease-causing genetic variants with higher accuracy in a process called “next-generation phenotyping” (NGP).

NGP is the use of computational techniques to integrate phenotypic data into the analysis of human health, including the capturing, structuring, and interpretation of complex clinical information. The correlations found between phenotypic data and genomic data improve and accelerate targeted diagnostics, therapeutics development, and patient care.

“We estimate that the addition of phenotypic features increases the diagnostic yield to about 60% (from 25% without).  When adding facial analysis, FDNA’s technology, to that process, the diagnostic yield increases to more than 85%.”  Dr. Peter Krawitz University Hospital Bonn, Germany, Principal Investigator of PEDIA

NGP has the capacity to complement NGS across the entire Pharma chain, from discovery to development to commercialization. NGP helps researchers identify and target disease biomarkers, enable earlier and more targeted patient diagnosis for trial recruitment, and personalize therapeutic approaches.

Interested in learning more about using NGP for the benefit of your development and commercialization activities? Learn more at www.FDNA.com

*Source:  National Institute of Health, National Human Genome Research Institute (7/17), Biology Reference, Illumina

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As part of FDNA’s Year of Discovery, FDNA collaborated with the National Foundation for Ectodermal Dysplasias, sponsored by GeneDx, to research and promote awareness of Skin Disorders throughout the month of December.

About Skin Disorders

Abnormalities of the hair, skin, sweat glands, nails, and teeth are frequently associated with various genetic diseases. The list of rare skin disorders is lengthy, with a wide range of severity and symptoms. Often, the features associated with these conditions are present at birth or develop within the first few years of life, though detection during pregnancy is also possible. Some of the associated features of many skin disorders include:

• Skin lesions
• Abnormal or missing nails
• Sparse hair and eyebrows
• Absent teeth or delayed dentition, and more.

Ectodermal Dysplasias

Nearly 200 types of syndromes are classified under a category of skin disorders known as “Ectodermal Dysplasias,” identified by the specific combination of symptoms that are present in the given individual. One in every 10,000 children per year are born with a form of Ectodermal Dysplasia, such as Coffin-Siris syndrome, several forms of Ehlers-Danlos syndrome, and Trichorhinophalangeal syndromes. More information about these conditions can be found at the National Foundation for Ectodermal Dysplasias.

Expanding Resources through Technology

Typically, the process of diagnosing and treating rare skin disorders involves consulting various clinical specialists. With advancements in technology, clinicians are able to easily access and utilize improved resources, which can aid in the tests and evaluations used to identify and gain a greater understanding of different syndromes. Thanks to the collection of many facial images of patients diagnosed with these rare diseases, FDNA’s platform, Face2Gene Suite, can learn valuable information on their clinical presentation. In result, we have been able to create and validate a model for the facial patterns that are common among these individuals. Below you will find some of the validated facial masks of skin disorders generated by Face2Gene.

The above, along with myriad other syndromes, are available
for patient evaluations via Face2Gene CLINIC.

The post Skin Disorders Discoveries in the Year of Discovery appeared first on FDNA™.

FDNA focused on skin disorders in December for the Year of Discovery. We are uniting healthcare, advocacy, and technology for rare disease advancements. Every time a case is analyzed by Face2Gene, the de-identified case data can train the system to recognize new phenotypes, facial characteristics and genes. This information will improve our understanding of rare diseases and directly impact the lives of patients and families for years to come. As part of this initiative, the National Foundation for Ectodermal Dysplasias (NFED) will receive a charitable donation sponsored by GeneDx.

Dexter’s Journey

Jamie Critchell had a feeling that her son was following in her footsteps when he only developed 18 of his 20 baby teeth.  A trip to his pediatric dentist led the family on a journey to a diagnosis of one of the rare types of ectodermal dysplasia called odontoonychodermal dysplasia (OODD), which is an autosomal recessive condition. This means each parent carries a gene for the condition.

The diagnosis would not have happened if this Canadian mom had listened to a care provider who told her that “it wasn’t that bad” and that they didn’t need genetic testing. Jamie trusted her motherly instinct and knew that it could offer understanding and information for her family.

“All moms say that their kids are the sweetest, the most whatever, but in this case, I do truly mean that Dexter is a sweet, caring boy,” said Jamie in an interview with the National Foundation for Ectodermal Dysplasia. “He wants everyone around him to be happy and will do what he can and give of himself to make it happen.”

For the little boy that loved to play with LEGOs and outside in the mud, his family did not feel concern for his health until they realized he was missing two baby teeth. After an initial exam, the family was only left with more questions.

“By asking this question, we also got the answer which we did not want to hear…Dex is missing 14 adult teeth, six of which are front and center with four more visible with a smile. He has a couple of slightly more than normal pointed teeth. So there are some serious concerns not only cosmetically, but also with regards to bite, speech, breathing, and posture. The list really goes on.”

The family soon began to notice even more symptoms including soft, thin, and splitting nails, thickening skin on the bottom of his feet and then there was the fact that Dex wasn’t sweating.

“I went to my family doctor with hopes of getting a genetic test. During this time, I started reading about this a little more and noticed that some of my family members have little parts of this (condition) present in them. This only strengthened my resolve to get him tested.”

The process wasn’t straightforward by any means, and Dexter’s parents faced multiple roadblocks trying to confirm a diagnosis.

“Due to our medical system (in Canada), our family doctor was not able to order the tests and we had to be referred to a pediatric specialist. Once we could get in to see them, then the request was made to our local Children’s hospital. After several months, we got the appointment to meet with the genetics department and interview the doctors.”

“After the interview, we then had Dex’s blood taken. We had to wait to see if the hospital board would approve the funding for the test. A further few more months, we finally got the letter with the diagnosis. Dex was five years old. We knew it would not change anything in our lives but it was such a good feeling to know we have facts and can start to piece together a game plan for his life to make it as ‘normal’ as any other child.”

The family was referred to NFED by their pediatric doctor. They are looking forward to using their resources to find the right clinicians to help Dexter throughout his medical journey—and to connect with other families going through similar experiences.

“It was a long road with some telling us this was not important…it really was and is. It is stunning just how much knowledge is power.”

Read the full original story on the NFED website

What are Ectodermal Dysplasias

The National Foundation for Ectodermal Dysplasias (NFED) is the worldwide expert on ectodermal dysplasias and the only advocacy organization in the United States dedicated to those living with these disorders.

Ectodermal dysplasias are a diverse group of genetic disorders that involve defects of the hair, nails, teeth, skin, and glands. Other parts of the body, such as the eyes or throat, may be affected as well. The combination of physical features a person has and the way in which it is inherited determines if it is an ectodermal dysplasia. For example, hypohidrotic ectodermal dysplasia affects the hair, teeth, and sweat glands while Clouston syndrome affects the hair and nails.

More than 180 different types of ectodermal dysplasias exist. Yet, most types share some common symptoms, ranging from mild to severe. The early diagnosis of a specific type will help identify which combination of symptoms the person has or will have.

This depends on the specific type of ectodermal dysplasia a person has. Even within each type, people can be affected differently depending on the combination of symptoms they have. Any one of the abnormalities may be mild or severe. The physical appearance, then, varies from person to person including within a family and from family to family.

The ectodermal dysplasias are complex. NFED is working with the scientific and medical community to create a new classification system to better define what is and what isn’t an ectodermal dysplasia. This system will include symptoms, genomic information, and biomedical information.

How NFED is Helping Patients

NFED works to connect patients with the best of care through its network of dental treatment centers which feature the most experienced partners at universities and private practices who treat ectodermal dysplasia at affordable costs. They also offer financial assistance to aid with dentures for children, wigs, air conditioners, and cooling vests to help offset some of the more frustrating symptoms of the disease.

NFED offers a program called “First Connect” which gives one-on-one support to help patients learn more about the community of support available to them after a new diagnosis. Their Family Liaison Program can assist the whole family in coping with a parent or child’s diagnosis by listening, sharing experiences, and discussing available resources.

Families have even more opportunities to connect through their annual three-day conference where patients can meet and learn from expert doctors and dentists. Kids and teens spend these three days at “Kay’s Kids Camp” which offers age-appropriate crafts, games, entertainment, and more. To make sure that all families have the opportunity for support—the organization even offers the “Ben Meier’s Golden Ticket Fund” which supplies financial assistance to patients who wish to attend the event.

NFED is committed to the pursuit of information and developing research on treatments for the disease. Through the Ectodermal Dysplasias International Registry patients are asked to share personal information and symptoms for further exploration.

To learn more about how NFED is helping patients and their families across the US please visit www.nfed.org

About GeneDx

GeneDx is a world leader in genomics with acknowledged expertise in rare and ultra-rare genetic disorders, as well as one of the broadest menus of sequencing services available among commercial laboratories. Providing testing to patients and their families in more than 55 countries, GeneDx is a business unit of BioReference Laboratories, a wholly-owned subsidiary of OPKO Health, Inc. To learn more, please visit www.genedx.com

Face2Gene CLINIC is a free, HIPAA-compliant search & reference tool for healthcare professionals. Face2Gene is provided for informational purposes and not intended to replace the clinician’s judgment or experience, nor should it be used to diagnose or treat medical conditions.

*All donations are provided directly by the participating sponsor in such month and at its sole responsibility. Amounts may be capped to a maximum in each month, at the participating sponsor’s sole discretion.

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