Biotechnology
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Last reviewed: May 2018
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Noonan syndrome
Noonan syndrome is a genetic condition that usually includes heart abnormalities and characteristic facial features. About one third of affected children have mild intellectual disability. Noonan syndrome varies from relatively mild to severe. In some cases, the physical characteristics are so subtle that the child doesn’t look noticeably different.
Read more on Better Health Channel website
Genetic testing for inherited cancer
A predisposition to certain cancers can be inherited via altered genes. Genetic testing aims to detect a genetic alteration that might increase the chances of a person developing a particular cancer. This testing is available to some families with a high risk of a genetic predisposition to certain cancers.
Read more on Better Health Channel website
Parenting and Child Health - Health Topics - Down syndrome
Down syndrome is a common genetic condition that causes intellectual disability and other physical and learning challenges. By working together with early intervention services, you can learn how to play and communicate with children with Down syndrome in ways that help them reach their full potential.
Read more on Women's and Children's Health Network website
Pregnancy - Pregnancy Topics - Genetic or medical termination of pregnancy
No one who conceives a pregnancy expects to have to end it - terminate it - for medical reasons, or for a normally happy event to become one of sadness.
Read more on Women's and Children's Health Network website
Pregnancy - Pregnancy Topics - Preparing for pregnancy - inherited conditions
Talk to your doctor if you are worried about genetic (inherited) conditions such as cystic fibrosis or thalassemia.
Read more on Women's and Children's Health Network website
The process of donating | VARTA
Before donating you will need to:
Read more on VARTA - Victorian Assisted Reproductive Treatment Authority website
Why donor-linking matters | VARTA
Wendy Kramer is Director of the Donor Sibling Registry (DSR). The DSR is a US charity organisation, founded in 2000 by Wendy and her donor-conceived son Ryan, to assist individuals conceived as a result of sperm egg or embryo donation that are seeking to make mutually desired contact with others with whom they share genetic ties. Wendy speaks about the research undertaken by her organisation and the experiences of those people who have linked via DSR.
Read more on VARTA - Victorian Assisted Reproductive Treatment Authority website
Understanding Direct-to-Consumer (DTC) Genetic DNA Testing: An information resource for consumers | National Health and Medical Research Council
Read more on NHMRC – National Health and Medical Research Council website
How did this happen? | Heart Centre for Children
When parents first discover that their baby or child has a heart abnormality, it is common to ask, Why has this happened? and How can I stop this from happening again?
Read more on Sydney Children's Hospitals Network website
Are you eligible to donate? | VARTA
Donors come from all walks of life. Contrary to popular belief, they are not all university students. They are generous peoplewho give the gift of life to those affected by infertility. Donors need to considerthe emotional, legal and physicalimplications of their donation on all parties, including their own families prior to donating.
Read more on VARTA - Victorian Assisted Reproductive Treatment Authority 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
Genetics and genomics
Applications of genetics and genomics are flooding into clinical medicine and personal genotyping will influence many medical and health decisions in the future. This is particularly important in peri-conception care where couples have the opportunity to evaluate, prevent or get early diagnoses of genetic diseases.
Read more on Your Fertility website
Clinical Practice Guidelines Familial Aspects of Cancer: a Guide to Clinical Practice | National Health and Medical Research Council
Read more on NHMRC – National Health and Medical Research Council website
Meningococcal - Australian Meningococcal Surveillance Programme annual reports
The Australian Meningococcal Surveillance Programme is funded by the Federal health department to provide laboratory analysis of meninococcal isolates in Australia. The Programme produces an annual report on its findings. This page contains the annual reports, in both HTML and PDF format, from 1995.
Read more on Department of Health 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
