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.
Dragan Primorac is a Croatian politician, physician, geneticist, and forensic scientist. He served as Minister of Science, Education and Sports in the 9th and 10th government of Croatia under HDZ's Ivo Sanader, and was a presidential candidate in the 2009 and 2024 elections.
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.
Jonathan W. Simons is an American physician-scientist, medical oncologist, and leader in prostate cancer research. In August 2021, Simons was appointed the medical director and Chief Science Officer of the Marcus Foundation. Prior to joining the Marcus Foundation, he served a 14-year tenure as the President and chief executive officer of the Prostate Cancer Foundation. Simons’ laboratories, partly funded by the Prostate Cancer Foundation, at Johns Hopkins University and Emory University made original contributions to understanding the molecular biology of prostate cancer metastasis and principles of “broken immune tolerance” via T cell based immunotherapy for prostate cancer. The Simons lab invented GM-CSF genetically engineered vaccines for prostate cancer in rodents and humans for these studies, and subsequently Simons’ clinical team took the biotechnology into the world’s first human gene therapy clinical trials for advanced prostate cancer at Johns Hopkins.
Bruce Richard Korf is a medical geneticist at the University of Alabama at Birmingham. In April 2009, he began a two-year term as president of the American College of Medical Genetics (ACMG), a professional organization.
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 Children's 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.
Katherine Belov is an Australian geneticist, professor of comparative genomics in the School of Life and Environmental Sciences and Pro Vice Chancellor of Global Engagement at the University of Sydney. She is head of the Australasian Wildlife Genomics Group and research expert in the area of comparative genomics and immunogenetics, including Tasmanian devils and koalas, two iconic Australian species that are threatened by disease processes. Throughout her career, she has disproved the idea that marsupial immune system is primitive, characterized the South American gray short-tailed opossum's immune genes, participated in the Platypus Genome Project, led research identifying the properties of platypus venom, and identified the cause of the spread of the Tasmanian devil's contagious cancer.
John M. Opitz was a German-American medical geneticist and professor at the University of Utah School of Medicine. He is best known for rediscovering the concept of the developmental field in humans and for his detection and delineation of many genetic syndromes, several now known as the "Opitz syndromes" including Smith–Lemli–Opitz syndrome (SLOS), Opitz–Kaveggia syndrome (FGS1), Opitz G/BBB syndrome, Bohring–Opitz syndrome, and other autosomal and X-linked conditions. He is founder of the Wisconsin Clinical Genetics Center, the American Journal of Medical Genetics, and was a cofounder of the American College and American Board of Medical Genetics.
David Albert Cooper was an Australian HIV/AIDS researcher, immunologist, professor at the University of New South Wales, and the director of the Kirby Institute. He and Professor Ron Penny diagnosed the first case of HIV in Australia.
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.
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.
Bettina Meiser is a professor at the University of New South Wales, with expertise in the psychosocial aspects of genetics; cancer, hereditary cancer, and the impact of genetic counselling and testing.
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 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.
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.
Elaine H. Zackai is a Professor of Pediatrics, Director of Clinical Genetics, and the Director of the Clinical Genetics Center at Children's Hospital of Philadelphia (CHOP).
Robert John Walsh was an Australian medical scientist and geneticist. He set up the New South Wales Red Cross Blood Transfusion Service, serving as its inaugural Director for twenty years from 1946 to 1966. From 1973 to 1982, he was the Dean of the Faculty of Medicine at the University of New South Wales. His research activities covered a wide range, including iron metabolism, blood groups, genetic influences on diseases, and improving techniques and equipment for collecting, processing, and transporting blood and its products. In 1982 he was awarded Australia's highest civilian honour, Companion of the Order of Australia, for his services to medicine.
Pisit Pitukcheewanont, also known as "Dr. Duke" is a Doctor of Medicine, a former professor of Clinical Pediatrics and a philanthropist. Currently, he is an adjunct professor of Clinical Pediatrics at Keck School of Medicine of the University of Southern California, the president of a nonprofit organization, The Human Growth Foundation and Senior Vice President of Global Clinical Development and Medical Affairs Lumos Pharmacy.
John Hemsley Pearn is a retired Australian paediatrician, soldier, former surgeon general of the Australian Defence Force, academic, historian, author, educator, and polymath.
