In this review:
A diagnosis for all rare genetic diseases
A points-based approach to the ACMG/AMP guidelines for sequence variant interpretation
Mutations in neurodevelopmental disability genes may confer risk for cerebral palsy
Engineering CRISPR models of neurogenetic disorders
The Zero Childhood Cancer Program: personalised medicine in childhood cancer
Targeted therapies for NF1-associated peripheral nerve sheath tumours
Anti-sense oligonucleotide therapy in rare neurodevelopmental disorders
Vosoritide elicits growth in paediatric patients with achondroplasia
Clash of hope and hype: Could stem cell counsellors aid in moderating expectation in stem cell science?
Long-term participation in paediatric clinical drug trials a commitment but provides hope
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