Biotechnology
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Last reviewed: May 2018
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Caf-au-lait macules - ACD
Caf-au-lait macules (CALMs) are benign well-circumscribed, flat, uniformly light to dark brown spots with a characteristic coffee-with-milk colour.
Read more on Australasian College of Dermatologists website
Epidermolysis bullosa simplex - ACD
Epidermolysis bullosa simplex (EBS) is one of the main types of epidermolysis bullosa (EB). This group of inherited skin fragility disorders is characterised by blistering of the skin with minimal injury.
Read more on Australasian College of Dermatologists website
Fabry disease - ACD
Fabry disease is a rare genetic condition, belonging to a group of diseases called lysosomal storage disease
Read more on Australasian College of Dermatologists website
Brain Foundation | Tuberous Sclerosis
Tuberous Sclerosis Description Tuberous Sclerosis is an uncommon andcomplex genetic disorder
Read more on Brain Foundation website
Brain Foundation | Prader-Willi Syndrome
Prader-Willi Syndrome Prader-Willi Syndrome Description Prader-Willi Syndrome (PWS) is a complex genetic disorder that typically causes low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviours, and a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity
Read more on Brain Foundation website
Brain Foundation | Leukodystrophy
Leukodystrophy Leukodystrophy Description Leukodystrophy and the related term leukoencephalopathy refer to a group of more than thirty-four conditions that affect the myelin, or white matter, of the brain and spinal cord
Read more on Brain Foundation website
Brain Foundation | Dysautonomia
Dysautonomia Dysautonomia (Familial Dysautonomia, Riley-Day Syndrome) Description Familial Dysautonomia (also known as Riley-Day Syndrome) is a rare genetic disorder that affects the sensory and autonomic nerve system
Read more on Brain Foundation website
Brain Foundation | Tay-Sachs Disease
Tay-Sachs Disease Tay-Sachs Disease Description Tay-Sachs disease (TSD) is a fatal inherited (genetic) disorder of the central nervous system
Read more on Brain Foundation website
RANZCOG WEBSITE - Prenatal Screening for Chromosomal and Genetic Conditions
The principle of screening is to offer a safe, accessible test to identifywomen with an increased chance of having a baby affected by achromosomal or genetic condition
Read more on RANZCOG - Royal Australian and New Zealand College of Obstetricians and Gynaecologists website
Neuromuscular conditions | Novita
While most forms of neuromuscular conditions become evident in early childhood, some others appear in late adolescence or adulthood
Read more on Novita Children's Services website
Top results
Does communicating DNA-based risk estimates motivate people to change their behaviour? | Cochrane
Tests can now be conducted in which DNA is analysed to estimate the chance of developing diseases such as heart disease or lung cancer in smokers. It was thought that risk estimates derived from these genetic tests may motivate people to change their behaviour in order to reduce the identified risks. In the current review, we assessed the effect of communicating disease risk estimates from genetic tests on risk-reducing behaviours and motivation to undertake such behaviours.
Read more on Cochrane (Australasian Centre) website
Cancer genetic risk assessment for individuals at risk of familial breast cancer | Cochrane
The recognition of an inherited component to breast cancer has led to an increase in demand for information, reassurance, and genetic testing, which resulted in the creation of genetic clinics for familial cancer. Cancer genetic services can involve extended counselling, specialist screening and genetic testing for mutations. Risk assessment is the first step in the process of providing information and support to patients and their families about their risk of inheriting cancer. Information on evidence-based methods of delivering cancer genetic risk-assessment services is, however, sparse. For this review a systematic search, review, and assessment of the literature on the delivery of cancer genetic risk-assessment services for individuals concerned with familial breast cancer was undertaken.
Read more on Cochrane (Australasian Centre) website
Exercise for treating people with diseases of their peripheral nerves (peripheral neuropathy) | Cochrane
Peripheral neuropathies are a wide range of diseases (both genetic and acquired) affecting the peripheral nerves. Symptoms can include pain, altered sensation such as tingling or numbness, muscle weakness and fatigue. Exercise therapy, with a view to improving strength and stamina, forms part of many rehabilitation programmes after a peripheral neuropathy. This review found inadequate evidence from randomised controlled trials to evaluate the effect of exercise in disability in peripheral neuropathy. There was evidence that strengthening exercises moderately improve muscle strength in people with a peripheral neuropathy.
Read more on Cochrane (Australasian Centre) website
Interventions for preventing of non-melanoma skin cancers in high-risk groups | Cochrane
Non-melanoma skin cancer is still the most common cancer in the UK, the United States and Australia. People at increased risk of getting non-melanoma skin cancer include those with lowered immunity, a history of non-melanoma skin cancer, rare inherited genetic skin disorders, trauma to the skin, exposure to arsenic, albinism or having had psoralen and ultraviolet A treatment. Very few studies have been conducted in people at increased risk of NMSC.
Read more on Cochrane (Australasian Centre) website
Surgical treatments for pectus excavatum | Cochrane
Pectus excavatum is characterized by a depression (sunken appearance) of the anterior (front) chest wall (sternum and lower costal cartilages); it is the most common chest wall defect. The frequency ranges from 6.28 to 12 cases per 1000 around the world. It is generally regarded as a genetic condition, based on the fact that it is usually present in several members of the same family and is often associated with other genetic diseases; however, its causes remain in debate. To what degree the disorder affects the individual's life is variable, some will live a normal life and others can have physical and psychological symptoms such as: precordial pain after exercises; problems with pulmonary and cardiac function; shyness and social isolation.
Read more on Cochrane (Australasian Centre) website
Causes of bipolar disorder
While the exact causes of bipolar disorder are not yet fully understood, we do know that it is primarily a biological illness. However, its onset is often linked to stressful life events.
Read more on Black Dog Institute website
Treatments for bipolar disorder
Bipolar disorder is a biological condition with a strong genetic component which requires long-term management.
Read more on Black Dog Institute website
Classic twin study
The official website of Twins Research Australia.
Read more on Twins Research Australia website
The challenge of costly drugs | Issue 3 | Volume 39 | Australian Prescriber
The Pharmaceutical Benefits Scheme costs Australia over $9 billion. Are taxpayers receiving value for money? Read about the challenges of providing uniform...
Read more on Australian Prescriber website
Managing the drug treatment of rheumatoid arthritis | Issue 2 | Volume 40 | Australian Prescriber | Australian Prescriber
Choosing the right treatment for rheumatoid arthritis can be challenging. Find out what the key considerations are.
Read more on Australian Prescriber website
