Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This field is considered necessary for the implementation of genomic medicine. The process integrates:
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.
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.
Orofaciodigital syndrome or oral-facial-digital syndrome is a group of at least 13 related conditions that affect the development of the mouth, facial features, and digits in between 1 in 50,000 to 250,000 newborns with the majority of cases being type I.
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.
DECIPHER is a web-based resource and database of genomic variation data from analysis of patient DNA. It documents submicroscopic chromosome abnormalities and pathogenic sequence variants, from over 25000 patients and maps them to the human genome using Ensembl or UCSC Genome Browser. In addition it catalogues the clinical characteristics from each patient and maintains a database of microdeletion/duplication syndromes, together with links to relevant scientific reports and support groups.
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.
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.
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.
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.
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).
Ada Hamosh is an American pediatrician and geneticist. She is the Frank V. Sutland Professor of Genetics in the Departments of Genetic Medicine and Pediatrics at the Johns Hopkins University. She is a physician-scientist known for resources she created for researchers and clinicians globally.
