We are delighted to announce that Molecular Genetics & Genomic Medicine (MGGM) has published its Inaugural Issue. MGGM is a peer reviewed, open access journal for rapid dissemination of high-quality research related to the dynamically developing areas of human, molecular and medical genetics. Following our launch in November 2012 we have received high quality submissions across the whole scope of the journal.
MGGM is edited by Dr. Maximilian Muenke. For the past two decades, the focus of Dr. Muenke’s research has been on the identification of the underlying causes of craniofacial anomalies. More recently, his lab has identified susceptibility loci for the most common childhood behavioral disorder, Attention-Deficit/Hyperactivity Disorder (ADHD), with further research focused on predicting severity, treatment response, and long-term outcome. Dr. Muenke is also interested in personalized medicine, from understanding rare and common diseases to their treatment and prevention. Our first issue launches with some great papers covering areas of biochemical, cardiac and ocular genetics. Below are Dr. Muenke’s issue highlights:
MT-CYB mutations in Hypertrophic Cardiomyopathy by Christian M. Hagen, Frederik H. Aidt, Ole Havndrup, Paula L. Hedley, Cathrine Jespersgaard, Morten Jensen, Jørgen K. Kanters, Johanna C. Moolman-Smook, Daniel V. Møller, Henning Bundgaard and Michael Christiansen
Summary: This study is a comprehensive screening of HCM patients for MT-CYB mutations. We find that rare mtDNA variants occur quite frequently in HCM patients and our molecular modeling studies suggest that some of these may be of functional significance. The described variants may contribute to the phenotypic variability of HCM, and may be of a more general significance in relation to mtDNA variants as disease modifiers and susceptibility factors.
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center by Christina Gerth-Kahlert, Kathleen Williamson, Morad Ansari, Jacqueline K. Rainger, Volker Hingst, Theodor Zimmermann, Stefani Tech, Rudolf F. Guthoff, Veronica van Heyningen and David R. FitzPatrick
Summary: Mutations in three genes, SOX2, OTX2 and STRA6, account for 75% of the cases of severe bilateral eye malformations in a consecutive series of cases from a single centre. The phenotypic spectrum associated with mutations in each of these genes is wider than previously thought. We also report the first observation of a heterozygous loss-of-function allele of SOX2 that is inherited from an affected parent.
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