Featured | Jun 20, 2018

Fighting Rare Genetic Disorders: Hope Through Diagnosis

Rare genetic disorders challenge diagnosis. Lack of education and unprecedented symptoms hinder progress. Organizations like SWAN USA and GeneDx, along with predictive medicine, offer hope.


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The first sweet smile; the first little word; the first wobbly steps. Parents-to-be are looking forward to experiencing those precious moments with their child.  For some parents, these bright hopes for the future are often shattered when they find out that their child is affected by a rare genetic condition that has no treatment, often preventing the child from reaching those common milestones.  


Of the various types of diseases, genetic disorders remain one of the hardest to research in modern medicine. Treating the symptoms of a known genetic disorder and working towards a treatment plan often represent a huge challenge for physicians.


This is in part because children will occasionally experience symptoms that do not reveal an exact diagnosis in routine testing. These syndromes-without-a-name (SWAN) children often experience delays in physical and mental development, have to cope with learning disabilities, have a higher susceptibility to infections, and other complex medical needs. Without a diagnosis, the physician can only try to minimize the damage of the symptoms, but why is it so hard to diagnose those children despite all our medical progress?


One reason is the lack of education in the field of rare genetic conditions. SWAN children experience combinations of symptoms that have not been seen before in phenotypic features or genotype patterns. As a consequence, their families are faced with a painful uncertainty, and sometimes even have to hear the words: “Your child’s disease is too rare to treat”.


Through personalized medicine, organizations are finding ways to diagnose these rare diseases to identify g the right course of treatment. Databases and start-ups all over the world are helping to develop predictive medicine, which will enable sharing of genomic and clinical data worldwide. For instance, GeneDx, which specializes in identifying rare and ultra-rare diseases, has just finished its 100k exome sequencing traditionally ordered for SWAN children. Nonprofit organizations like SWAN USA provide valuable resources that support and advise affected individuals and their families. Additionally SWAN USA serves as an advocate for changes in the medical communities for undiagnosed individuals.  The rise of predictive medicine improves the chances that SWAN children will receive a diagnosis. A diagnosis will allow these individuals to receive a treatment plan and increase their chances of survival.


Knowledge of rare genetic conditions will help in the identification of unprecedented combinations of symptoms, provide a diagnosis, treatment plan, and hope to those families who are battling rare genetic conditions. There are different organizations and companies, which are conducting research in the field of molecular diagnosis and assisting with genetic testing. These companies include Invitae, Rare Genomics Institute, Global Genes, Ambry, Myriad, and Blueprint. Organizations like MyGene2  and RUN are helping families to receive a genetic diagnosis and connecting them with other affected individuals.


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Journals and content providers often provide valuable resources in order to educate professionals about the diagnosis and treatment of rare genetic conditions. We strive to provide the best-accredited materials for you by aggregating content from top CE producers and medical researchers into one easy-to-use platform.


Advanced Continuing Education Association (ACEA)

Web: ACEAglobal.com


List of Resources:











Rare Genomics Institute:




Global Genes:
























Blueprint Genetics:



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