Albinism is a genetic condition that causes a person to have no, or very little, pigment in the eyes and sometimes in the skin and hair also. Albinism is passed from parent to child because of a genetic mutation.
Ocular albinism (OA) is a genetic condition that affects the pigment in the eyes. It causes poor eyesight. OA does not affect the pigment in the skin or the hair.
Genetics can play an important role in your family's health. Learn more about genetics; genetic counselling, screening, and diagnosis; different genetic conditions; and how genetics relate to understanding and managing overall health.
Discover why you or your child may have been referred for a genetics appointment and what to expect when you see a geneticist and/or a genetic counsellor.
Learn about genetics and how genetics contribute to health and disease.
Find out how genetics play a part in many types of epilepsy.
Learn about the role that genetics plays in many heart conditions that afflict children.
Understanding your child's cleft lip and/or palate through genetic assessments.
Hereditary spherocytosis is a genetic condition. In most cases it is inherited from a parent. Learn how HS is inherited and what happens in a de novo mutation.
Learn about genetics in the context of pharmacogenetics (PGx) and precision medicine.
Learn about the genetic causes of 22q11 deletion syndrome, risk factors and confirming diagnosis.
Neurofibromatosis Type 1 (NF1) occurs because of a mutation to the NF1 gene. About half of cases are spontaneous mutations, while the other half are inherited from a parent to a child.
A list of websites with in-depth information on neurofibromatosis type 1 (NF1) in children.
Learn more about genetics.
A healthy weight is different for everyone. Find out how you can maintain the weight that is healthy for you and why this is important.
An overview of the causes, genetics, symptoms, diagnosis, environmental risks and treatment of childhood brain tumours.
Genetic counselling helps people understand genetic or inherited disorders. It can help families learn about neurofibromatosis type 1 (NF1) and decide if testing is right for them.
Learn about the main features and causes of bulimia nervosa.
Pharmacogenetics is an example of precision medicine that uses a person’s genetic make-up to predict medication response.
Find out how anorexia nervosa can occur and who is most likely to be affected by it.
Learn about autism spectrum disorder, including the characteristics and causes of autism.
Learn about VKORC1, a gene tested through pharmacogenetic testing to predict an individual’s response to certain medications.
Learn about the various health specialties and medications that have established pharmacogenetic (PGx) guidelines to help inform medication prescribing and treatment decisions for your child.