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DNA Science
(Solve-RD)
The journey of naming an odd collection of symptoms is called, for good reason, the diagnostic odyssey. It can take years for gateway health care providers and then sequences of siloed specialists to synthesize clinical findings and a family’s observations into a diagnosis.
Consider Hannah’s Sames’ journey. Hannah had gene therapy for giant axonal neuropathy in 2016, and I tell her story in my book The Forever Fix: Gene Therapy and the Boy Who Saved It. Hannah was diagnosed at age 3; she just attended her junior prom!
The first sign of Hannah’s condition, in retrospect, was her tight curls, the consequence of buildup of an abnormal protein, gigaxonin. The second sign was her odd gait as a toddler. A pediatrician, orthopedist, and podiatrist had no idea that the feathery filaments of abnormal gigaxonin were already distorting the motor neurons whose axons stretched down the little girl’s legs.
The Treatabolome project is a research initiative to develop a freely available, interoperable online platform to disseminate rare disease and gene-specific treatment information to healthcare professionals regardless of their level of specialized expertise to reduce treatment delays. This initiative is highly relevant to neuromuscular disorders as they are rare diseases by definition. In this special issue of the Journal of Neuromuscular Diseases, experts contribute Treatabolome-feeding systematic literature reviews on rare neurological and neuromuscular disorders.
The Treatabolome project is a research initiative to develop a freely available, interoperable online platform dedicated to disseminating rare disease and gene-specific treatment information to healthcare professionals regardless of their level of specialized expertise.
Perth programme and bid attracts Neuromuscular Congress to return to Western Australia in 2024
The International Congress on Neuromuscular Diseases is set to return to
Perth, Western Australia, for the first time in over 50 years. The Congress is expected to attract thousands of delegates from around the world for the 2024 date.
The event was first held in Perth in 1971, following the groundbreaking research by Western Australian (WA) Emeritus Professor Byron Kakulas AO who showed that degenerated muscle could regenerate in quokkas.
This research eventually led to United States Food and Drug Administration approved treatments developed by WA’s Perron Institute for Neurological and Translational Science for Duchenne muscular dystrophy, with application to other diseases.