Clinical and Molecular Heterogeneity of Osteogenesis Imperfecta

Dr Meena Balasubramanian (MBBS, DCH, FRCPCH, MD) is a Consultant Clinical Geneticist at Sheffield; she is the Lead Geneticist for the Highly specialised, severe, complex and atypical Osteogenesis Imperfecta national service. She is an Honorary Senior Lecturer at the Department of Oncology & Metabolism, University of Sheffield. Dr Balasubramanian completed her Paediatric training before undertaking specialist training in Clinical Genetics in Southampton and Sheffield. Her MD is on atypical presentations of Osteogenesis Imperfecta (OI) obtained from the University of Sheffield in 2012. She has led several projects focused on genetics of OI and currently pursuing research projects focussed on identifying novel genetic causes in OI, phenotypic associations and exploring newer targets for therapy for OI. She has close links with patient support groups including Brittle Bone Society and has been invited to speak at their annual conferences. Dr Balasubramanian's other areas of specialism, include Genetics in autism & Paediatric Dysmorphology. She has published several first and senior-author publications in OI and in these areas. Professor Dhavendra Kumar is Consultant in Clinical Genetics at the University Hospital of Wales, Cardiff University, UK. He is the Visiting Professor to the Genomic Policy Research Unit, the University of Glamorgan, UK; and Adjunct Professor to the Public Health Genetics Unit at the Chinese Capital Medical University, Beijing, China. He is a Fellow of the American College of Medical Genetics (FACMG), as well as the Royal Colleges of Physicians of London (FRCP); Ireland (FRCPI) & Paediatrics and Child Health (FRCPCH, UK). He serves on the Council of the Human Genome Organization and is the founding editor of The HUGO Journal. He has authored/edited Genetic disorders of the Indian Subcontinent (2004); Genomics and Clinical Medicine (2008); Principles and Practice of Clinical Cardiovascular Genetics (2010); Oxford Specialist Handbook on Inherited Cardiac Disease (2011); and Genomics and Health of the Developing World (2012). He is the Founder/Editor in Chief of Applied and Translational Genomics, a new open access biomedical genomics journal. He founded and leads the e-book series on Genomic and Molecular Medicine (Morgan and Claypool Life Sciences). In addition to his professional commitment to clinical genetics & cardiovascular genetics, he is passionate about the applications of genomics in medicine, public/population health, and biotechnology/bio-economy. He actively pursues promotion and collaboration for genetics/genomics in healthcare and socio-economic benefits across the developing world through establishing professional networks of joint public-private partnership.

Introduction
The Normal Bone
Osteogenesis Imperfecta
Molecular Heterogeneity of OI
Differential Diagnoses
Genetic Diagnosis and Management of OI
Therapeutic Approaches for OI
Comorbidities
Prognosis
Latest Developments
Conclusions
References
Glossary
Author Biography