Knowledge about Bohring-Opitz Syndrome we owe to all the parents who are willing to share information from their child with medical world. The project Face2Gene is such an initiative to make an early diagnosis easier. The collaboration of parents and professionals is an important base to increase the knowledge and, where possible, to find treatment methods in the future for better live of children with Bohring-Opitz Syndrome. All these parents and scientists deserve great respect and we, the BOS family are very grateful for their efforts! Thank you, little girl!
After we received our diagnosis of a rare disorder called Bohring-Opitz Syndrome, I wanted to know how we could help others receive an accurate diagnosis faster and more easily than we did. A few months before Hazel’s diagnosis, I learned about a facial recognition app called Face2Gene that identifies facial features from various syndromes and helps lead geneticists towards a suspected diagnosis. At that time, we had already given blood samples for whole exome sequencing, so we did not use the Face2Gene app on Hazel to search for a possible lead on a diagnosis.
But now we have come full circle. The Bohring-Opitz Support Group created a portal that allows families and medical professionals working with children and young adults diagnosed with BOS to upload their photos. These photos will be loaded in the F2G system, and as I understand it, an algorithm will be created that…
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