Drew’s Journey with Noonan Syndrome
This month in the Year of Discovery, FDNA spotlights syndromes categorized as RASopathies. Every case uploaded in March will be…
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Himanshu Goel, et al. Case study: Next-generation phenotyping complementing next-generation sequencing
Continue readingAbstract Number: (501)Case study: Next-generation phenotyping complementing next-generation sequencing Topic: Clinical GeneticsPresenting Author: Himanshu Goel Co-Authors: Z. Yüksel, Centogene AG, Rostock, Germany; N. Fleischer, FDNA…
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B. Russell, et al. Bohring-Opitz Syndrome Patient Support Group an Essential Element for Optimizing Facial Dysmorphism Recognition Software Tool
Continue readingAbstract Number: (384)Bohring-Opitz Syndrome Patient Support Group An Essential Element for Optimizing Facial Dysmorphism Recognition Software Tool Topic: Clinical Genetics Presenting Author: Bianca…
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How data warehouses can speed identification of rare diseases
Continue readingDekel Gelbman, CEO of FDNA, was featured in Health Data Management discussing the value for hospitals of using clinical data…
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FDNA Partners with Blueprint Genetics to Spotlight RASopathies During the Year of Discovery
Continue readingFDNA’s Year of Discovery Initiative will spotlight a different genetic syndrome group each month as part of their mission to…
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What to Do and See at ACMG 2017 in Phoenix, AZ
Continue readingAnnual Clinical Genetics Meeting (ACMG 2017) Phoenix Convention Center, Phoenix, Arizona March 21-25, 2017 Phoenix, Arizona – With ACMG just over…
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Pinpointing Rare Diseases with Facial Analysis and Phenotyping Technology
Continue readingDekel Gelbman, CEO of FDNA, was featured in the Medical Device and Diagnostics Industry, discussing the value of facial analysis…
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Phenotyping technologies save on costs and improve rare disease workflows
Continue readingDekel Gelbman, CEO of FDNA, was featured in Becker’s Hospital Review, discussing the value of phenotyping to hospitals involved in…
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FDNA Launches “Year of Discovery” for Rare Disease Day
Continue readingBoston-based health and tech start-up calls on patients and clinicians to share their stories to help make new discoveries needed…
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