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Making sense of missense in a rare children’s neurological disease
Rare genetic diseases, as the name suggests, are rare. Even diseases that are part of Finnish national heritage, such as aspartylglucosaminuria (AGU), with high prevalence ratios, are diagnosed in only a few children annually. But is this “rarity” an illusion?
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Estimated 6,000 to 10,000 different rare diseases affecting up to 8% of the world’s population. Essentially, this phenomenon impacts us all, either directly or indirectly.
Although challenging, rare diseases can be treated similarly to infectious diseases. For example, drugs like elexacaftor and ivacaftor have been developed to alleviate the symptoms of cystic fibrosis. However, because drug development is very expensive, early-stage research, which could lead to breakthroughs, relies entirely on open academic efforts that face their own funding challenges.
Regardless, it is morally imperative that we try to tackle this issue, as it affects foremost the most vulnerable and cherished members of our society—children.
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