Baylor College of Medicine (BCM) is a medical school and research center in Houston, Texas, within the Texas Medical Center, the world's largest medical center. BCM is composed of four academic components: the School of Medicine, the Graduate School of Biomedical Sciences; the School of Health Professions, and the National School of Tropical Medicine.
The Royal Australian and New Zealand College of Radiologists (RANZCR) is the leading professional organisation for the promotion of the science and practice of the medical specialties of clinical radiology and radiation oncology in Australia and New Zealand. The college has members throughout the world. RANZCR provides the educational curricula for medical graduates training to enter the specialties.
Mismatch repair cancer syndrome (MMRCS) is a cancer syndrome associated with biallelic DNA mismatch repair mutations. It is also known as Turcot syndrome and by several other names.
Genetics, a discipline of biology, is the science of heredity and variation in living organisms.
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.
Marist College Ashgrove is an independent Roman Catholic day and boarding primary and secondary school for boys, located in the northern Brisbane suburb of Ashgrove, in Queensland, Australia. The college caters for students from Year 5 to Year 12.
The Royal Australasian College of Physicians (RACP) is a not-for-profit professional organisation responsible for training and educating physicians and paediatricians across Australia and New Zealand.
Zimmermann–Laband syndrome (ZLS) is two different conditions that share similar clinical features. It is an extremely rare, autosomal dominant congenital disorder.
Fellow of the Royal Australasian College of Physicians, abbreviated as the post-nominal initials FRACP, is a recognition of the completion of the prescribed postgraduate specialist training programme in internal adult or internal paediatric medicine of the Royal Australasian College of Physicians.
Potassium voltage-gated channel subfamily H member 1 is a protein that in humans is encoded by the KCNH1 gene.
Zygosity is the degree to which both copies of a chromosome or gene have the same genetic sequence. In other words, it is the degree of similarity of the alleles in an organism.
David Owen Sillence is an academic and medical geneticist. He is an emeritus professor at the University of Sydney, where he was the foundation chair (Professor) of Medical Genetics. An honours graduate of the University of Sydney, he obtained his MD in Medical Genetics from the University of Melbourne 1978 in bone dysplasia.
Albert Fredrik de la Chapelle, MD, Ph.D was a Finnish human geneticist, long-time head of Finland's first Department of Medical Genetics at the University of Helsinki, and subsequently professor of Human Cancer Genetics at Ohio State University. He was best known for his role in the elucidation of the genetics of hereditary colorectal cancer and Lynch syndrome.
Charis Eng is a Singapore-born physician-scientist and geneticist at the Cleveland Clinic, notable for identifying the PTEN gene. She is 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.
The Australasian Association of Clinical Geneticists (AACG) is a professional membership organization for medical specialists who are qualified to work in the field of clinical genetics. The Association was founded in 1995. As of 2021, the organization had approximately 180 members. The Association's members include fully qualified clinical geneticists from Australia and New Zealand as well as individuals training in the field from those jurisdictions. The Association is a Special Interest Group of the Human Genetics Society of Australasia (HGSA).
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.
Associate Professor Asha Bowen is an Australian Paediatric Infectious Diseases clinician-scientist and a leading voice and advocate for children's health and well-being. She is Head of the Department of Infectious Diseases at Perth Children's Hospital, Head of the Healthy Skin and ARF Prevention team and Program Head of the End Rheumatic Heart Disease program at the Telethon Kids Institute. Bowen leads a large body of skin health research in partnership with healthcare workers and community in the Kimberley while expanding her team and work to understand skin health in urban Aboriginal children better. She has been widely acknowledged and awarded for her contributions towards improving the health and well-being of Australian children, and addressing existing health inequities faced by First Nations Australian children and their families. Throughout the COVID-19 pandemic she contributed her knowledge and expertise to clinical research, guideline development and on several national committees. She has published widely in the area of paediatric infectious diseases and is a recognized expert in the field who regularly contributes to popular Australian media sources such as The Conversation.
Temple–Baraitser syndrome (TBS) is a very rare autosomal dominant genetic disorder, characterised by intellectual disability, epilepsy, small or absent nail of the thumbs and great toes, and distinct craniofacial features.
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).
