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Molecularly Targeted Therapy for Mendelian Disorders 

Molecularly Targeted Therapy for Mendelian Disorders
Molecularly Targeted Therapy for Mendelian Disorders

Mark Davies

and Julian Roy Sampson

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date: 30 October 2020

The era of genomic medicine brings many new opportunities for treatment of genetic diseases where few existed previously. In Mendelian disorders the essentially causal relationship between mutation and disease provides the rationale for very specific therapies targeted to pathology at the DNA, RNA or protein level. The development of such therapies for rare Mendelian disorders often requires novel approaches in terms of biology, trial design and regulatory requirements and the emerging field of molecularly targeted therapy for these disorders has been characterised by setbacks and disappointments as well as stunning successes. Examples include exon skipping for X-linked Duchenne/ Becker muscular dustrophy; mTOR inhibitors for angioleiomyomas in tuberous sclerosis complex, enzyme replacement for metabolic storage disorders like Fabry, Gaucher and Pompe and new developments for Huntington’s disease.

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