September 2024 marks an exciting and important milestone for Journal of Medical Genetics as we celebrate 60 years of publishing!Over the past 6 decades, we have established ourselves as a trusted ...

Background The mitochondrial DNA (mDNA) 3243A>G variant is the most common pathogenic variant of the mDNA. To interpret results of clinical trials in mitochondrial disease, it is important to have a ...

Correspondence to Professor Zhiguang Zhou, Department of Metabolism and Endocrinology, Second Xiangya Hospital, Changsha 410011, China; zhouzhiguang{at}csu.edu.cn; Professor Zhiguo Xie, Department of ...

1 Division of Respirology, Department of Medicine, St Michael's Hospital, University of Toronto, Toronto, Ontario, Canada 2 Li Ka Shing Knowledge Institute, St Michael's Hospital, University of ...

The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and ...

Background Complex regional pain syndrome type 1 (CRPS-1) is a rare, disabling and sometimes chronic disorder usually arising after a trauma. This exploratory study examined whether patients with ...

1 The Congenital Anomalies Research Centre (CIAC), Institute of Health Carlos III (ISCIII), Madrid, Spain 2 The CIBER de Enfermedades Raras (CIBERER)(Centre for Biomedical Research on Rare Diseases), ...

Background Parkinson’s disease (PD) is a neurodegenerative disorder with complex genetic architecture. Besides rare mutations in high-risk genes related to monogenic familial forms of PD, multiple ...

Mammalian experiments provide clear evidence of male line transgenerational effects on health and development from paternal or ancestral early-life exposures such as diet or stress. The few human ...

Single-cell sequencing is a powerful approach that can detect genetic alterations and their phenotypic consequences in the context of human development, with cellular resolution. Humans start out as ...

Brain development involves the sequential expression of vulnerable biological processes including cell proliferation, programmed cell death, neuronal migration, synapse and functional unit formation.

Background Pegunigalsidase alfa is a PEGylated α-galactosidase A enzyme replacement therapy. BALANCE (NCT02795676) assessed non-inferiority of pegunigalsidase alfa versus agalsidase beta in adults ...