Osteogenesis imperfecta, colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that break easily. The range of symptoms—on the skeleton as well as on the body's other organs—may be mild to severe. Symptoms found in various types of OI include whites of the eye (sclerae) that are blue instead, short stature, loose joints, hearing loss, breathing problems and problems with the teeth. Potentially life-threatening complications, all of which become more common in more severe OI, include: tearing (dissection) of the major arteries, such as the aorta; pulmonary valve insufficiency secondary to distortion of the ribcage; and basilar invagination.
Sir Peter James Donnelly is an Australian-British mathematician and Professor of Statistical Science at the University of Oxford, and the CEO of Genomics PLC. He is a specialist in applied probability and has made contributions to coalescent theory. His research group at Oxford has an international reputation for the development of statistical methodology to analyze genetic data.
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.
Dentinogenesis imperfecta (DI) is a genetic disorder of tooth development. It is inherited in an autosomal dominant pattern, as a result of mutations on chromosome 4q21, in the dentine sialophosphoprotein gene (DSPP). It is one of the most frequently occurring autosomal dominant features in humans. Dentinogenesis imperfecta affects an estimated 1 in 6,000-8,000 people.
Dragan Primorac is a Croatian physician, geneticist, and forensic scientist. According to one of the leading World publishers, Elsevier BV, Prof. Primorac, for the last four years, has been on the list of 2% of top world scientists for career-long and single-year impact. He is the first recipient of the title "Global Penn State University Ambassador." He was the chair of the International Affairs Committee of the American Academy of Forensic Sciences. He is the Founder and President of the International Society for Applied Biological Sciences and the Chairman of the Board of Trustees of St. Catherine Hospital, Zagreb, Croatia. In addition, he is a member of the International Consortium for Personalised Medicine Executive Committee established by The European Commission. In November 2015, he was elected to lead the State competitiveness cluster in personalized medicine, while in 2018, he was elected to lead the Croatian Society for Human Genetics and, in 2019, the Croatian Society for Personalised Medicine. In March 2021. he is appointed as Professor Emeritus at National Forensic Sciences University in India. Primorac is a member of the Executive Committee of the Croatian Olympic Committee (2020-2024) and a member of the Medical team of the European Olympic Committees as well as the Vice President of the Croatian Taekwondo Federation.
An osteochondrodysplasia, or skeletal dysplasia, is a disorder of the development of bone and cartilage. Osteochondrodysplasias are rare diseases. About 1 in 5,000 babies are born with some type of skeletal dysplasia. Nonetheless, if taken collectively, genetic skeletal dysplasias or osteochondrodysplasias comprise a recognizable group of genetically determined disorders with generalized skeletal affection. These disorders lead to disproportionate short stature and bone abnormalities, particularly in the arms, legs, and spine. Skeletal dysplasia can result in marked functional limitation and even mortality.
Sir Peter Stanley Harper was a British physician and academic who was University Research Professor (Emeritus) in Human Genetics at Cardiff University. His work focused on researching neurogenetics and has resulted in discoveries concerning muscular dystrophies and Huntington's disease. He was knighted in 2004 for services to medicine.
Martin Bobrow is a British geneticist, and Emeritus Fellow, Wolfson College, Cambridge.
David Rosenblatt is a Canadian medical geneticist, pediatrician, and professor in the departments of Human Genetics, Medicine, Pediatrics, and Biology at McGill University in Montreal, Quebec, where he was the chairman of the Department of Human Genetics from 2001 to 2013. He is known for his contributions to the field of inborn errors of folate and vitamin B12 metabolism.
Kathryn Nance North is a paediatric physician, neurologist, and clinical geneticist. In 2013, she was appointed Director of the Murdoch Childrens Research Institute and was named the David Danks Professor of Child Health Research at the University of Melbourne. In 2012, North was appointed chair of the National Health and Medical Research Council Research Committee. In 2014, she was appointed vice chair of the Global Alliance for Genomics and Health (GA4GH) and co-chair of its Clinical Working Group.
Melanie Bahlo is an Australian statistical geneticist and bioinformatician.
David Joshua Handelsman, (AO) is trained in Medicine and Endocrinology. His expertise is in testicular function and androgen physiology, pharmacology, and toxicology. His experience spans basic, clinical, and public health domains including a recent focus on genetic models of androgen action, steroid mass spectrometry, and anti-doping science. He was Australia's first Professor in Reproductive Endocrinology and Andrology. He has worked in the US, Australia, and Germany. His professional involvement includes the World Health Organization (WHO) Human Reproduction Programme's Male Task Force, the United Nations Fund for Population Activities, Endocrine Society of Australia, World Anti-Doping Agency's Health, Medicine and Research Committee, and Australian Drug Evaluation Committee.
Charis Eng was a Singaporean American physician-scientist and geneticist at the Cleveland Clinic, notable for identifying the PTEN gene. She was the chairwoman and founding director of the Genomic Medicine Institute of the Cleveland Clinic, founding director and attending clinical cancer geneticist of the institute's clinical component, the Center for Personalized Genetic Healthcare, and professor and vice chairwoman of the Department of Genetics and Genome Sciences at Case Western Reserve University School of Medicine.
Leon Emanuel Rosenberg was an American physician-scientist, geneticist, and educator. He served as chair of the department of human genetics and also as dean of the medical school of Yale University. He then worked as the chief scientific officer of the Bristol-Myers Squibb Pharmaceutical company. He wrote more than 300 research articles, chapters, and books on his scientific research and public policy views across his career.
The Human Genetics Society of Australasia (HGSA) is a membership organization for individuals in the field of human genetics who primarily practise in the Oceania region. Members typically hold both a qualification in human genetics and work in the field. Membership is drawn from clinical, laboratory and academic specialties. Members include clinical geneticists; genetic counsellors; laboratory scientists ; and academics.
Grant Robert Sutherland is a retired Australian human geneticist and celebrated cytogeneticist. He was the Director, Department of Cytogenetics and Molecular Genetics, Adelaide Women's and Children's Hospital for 27 years (1975-2002), then became the Foundation Research Fellow there until 2007. He is an Emeritus Professor in the Departments of Paediatrics and Genetics at the University of Adelaide.
Lyn Robyn Griffiths is an Australian academic who serves as Distinguished Professor of molecular genetics at Queensland University of Technology, where she is director of the Centre for Genomics and Personalised Health, the Genomics Research Centre and the BridgeTech Programs. Griffiths is internationally renowned for her work in the discovery of the genetics of migraine headaches.
John Christodoulou is an Australian medical geneticist, genetic pathologist and clinical scientist. He is director of the Genetics Theme and Group Co-Leader of the Brain and Mitochondrial Research Group at Murdoch Children's Research Institute. Additionally, he holds the Chair in Genomic Medicine, Department of Paediatrics, The University of Melbourne.
