Homeostasis: self-regulating process by which a living organism can maintain internal stability within narrow limits (allows for

ws for optimal metabolic

regulated by activity/maintenance of health) while adjusting to changing external/internal conditions. Change via a stimulus from stable state is
nervous/ detected by a receptor (detects changes from steady state via eternal (ears)/internal (nerve cells) receptors e.g., thermoreceptor) 
endocrine receives/transmits an impulse to control centre (sets acceptable upper/lower limits for a variable and decides appropriate response) 
system. interprets the message  sends a signal to the appropriate effector (carriers out response e.g., muscle/glands)  body counteracting
these changes from the stable state via negative feedback loop (senses change/activates a process to negate the change).
Vasocontractio Narrowing/constriction of blood vessels by small muscles.
n
Vasodilation Widening of blood vessels to allow more blood to flow through them/lower blood pressure
Hypothalamus Control centre for homeostasis, located in the brain. Links endocrine and nervous system
Islets of Langerhans: islands of endocrine cells (alpha and beta) scattered throughout the pancreas (organ of digestive/endocrine system).
Nervous system sends very fast/precise electrical impulses through nerves, brain, and spinal cord. Coordinates its actions and sensory information by
transmitting signals to and from different parts of its body.
 Negative feedback loops that show homeostasis: temperature, glucose and water.
Thermoregulation: ability of an organism to maintain its body temperature within a certain range independently of its external environment.
This ensures the structural integrity of enzymes that catalyse cellular reactions, which are only optimal at certain temperature. e.g., wrong
temperature could stop ATP production.

Glucose levels: simple sugar. Important energy source in living organisms. Essential requirement to produce adenosine triphosphate (ATP-
molecule that carries energy for most chemical reactions within a cell) during cellular respiration. Need to a be maintained for long-term health
and survival.

Osmoregulation: active regulation of osmotic pressure (water/salt balance) of body fluids, detected by osmoreceptors, to maintain homeostasis
of water content. An abnormally low or high concentration of sodium in the blood can lead to health problems e.g., nausea, muscle
weakness/confusion, seizures, or even death.
Thermoregulation Glucose regulation Osmoregulation
Increase Response Heat lost via radiation from skin + Perspiration Liver cells activated to take up Binding of ADH to collecting duct of
detected secreted thus body temperature decreases. glucose and store as glycogen. nephrons reduced.
Body cells take up more glucose. Reabsorption of water reduced.
Blood glucose levels decrease. Blood water levels decrease.
Effector Muscles cause vasodilation of blood vessels to Insulin-secreting cells of pancreas Pituitary gland stimulated to produce
increase the flow of heat to the skin, + Sweat stimulated to release insulin into less ADH (Antidiuretic hormone).
glands activated- secrete salt and water follows blood binding with cells allowing for
due to osmosis (sweat evaporates cooling skin). glucose uptake
Control Hypothalamus activates cooling mechanism. Glucoregulatory neurons activate Hypothalamus activates response
centre (physiological) response mechanism mechanism.
Receptor Change detected by thermoreceptors in Detected by insulin-secreting (beta) Change detected by osmoreceptors
hypothalamus. cells of pancreas. in hypothalamus.
Stimulus Body temperature increases e.g., exercise. Increase blood glucose (after eating). Increase blood-water: over-hydrate.
Normal 35.6-37.8 degrees Celsius 4.0-7.8 mmol L-1 glucose 135-145 mEq L-1 (sodium levels)
Decrease Stimulus Body temperature increases- cold environment. Decrease in blood glucose- fasting Decreased blood water- lack of water
detected Receptor Change detected by thermoreceptors in Detected by glucagon-secreting Change detected by osmoreceptors
hypothalamus. (alpha) cells of pancreas. in hypothalamus.
Control Hypothalamus activates heating mechanism Glucoregulatory neurons activate Hypothalamus activates response
centre response mechanism. mechanism.
Effector Muscles cause vasoconstriction of the blood Glucagon-secreting cells of pancreas Pituitary gland stimulated to produce
vessels decreasing flow of heat to the skin, stimulated to release glucagon into more ADH.
shivering increases production of heat by blood.
muscles, “goosebumps,” trap air between the
hairs, Adrenal glands secrete stimulatory
hormones e.g., norepinephrine/epinephrine to
increase metabolic rates and hence heat
production.
Response Blood diverted away from skin surface to reduce Liver cells break down glycogen and Blood water levels increase.
heat loss + Shivering causes increased body release glucose into the blood. Binding of ADH to collecting duct of
temperature. Blood glucose levels increase. nephrons increases. Increased
reabsorption of water.
 investigate the various mechanisms used to maintain their internal environment within tolerance limits
Endotherm: organism that uses energy to regulate its internal body temperature (at a relatively constant level) e.g., mammals and birds.
Ectotherm: organism whose regulation of body temperature depends on external temperature e.g., fish, reptiles, amphibians, invertebrates.

Behavioural adaptations: patterns of behaviour an animal does usually in response to some type of external stimulus to survive e.g., regulate
their body temperature. Koalas adopt different body postures in trees, depending on the heat of the day. Hot weather: more of the body is in
contact with the tree trunk/large branches which are cooler than the air, increasing heat loss through the tree. Cooler weather: opposite.
Thermoregulation Function + adaptation: Behavioural adaptation
Hypothermia Keep body heat- Physical postures (basking, rolling into a ball), nest building, grouping strategies (huddling- penguins, nest-sharing)
avoidance Enhance body heat production- Increased movement/energy intake e.g., through eating more.
Hyperthermia To dissipate body heat- Habitat selection (places with shade/water), physical postures (stretching out body), and panting.
avoidance Decrease body heat production- Reduced movement/decreased energy intake i.e., less eating.
Structural adaptions: physical features of an organism that assist in maintaining homeostasis e.g., body shape, and the colour and thickness of
fur differ of habitat. Allen’s rule states that there is a trend in the length of limbs and appendages in relation to the climate. SA:V ratio affects
the amount of heat lost to air. The arctic hare: rounded body, short limbs and ears. Black-tailed jackrabbits live in hotter climates and have
thinner bodies and longer limbs and ears. For antelope jackrabbits: vasodilation of blood vessels in ears: body heat in blood is lost to air.

Physiological adaptations: occur within an organism to regulate and maintain homeostasis. E.g., changes in heart rate, oxygen uptake and
hormone levels. Antidiuretic hormone (ADH) regulates the amount of water in the body. Its release from the pituitary gland prevents the
kidneys from making too much urine (water retention). Marsupials: spectacled hare wallaby (shelters in spinifex brushes during temperatures
over 40 degrees/dry weather. Uses ADH as an adaption to reduce urine production/retain water). Rothchild’s rock wallaby (Relies on reduced
blood flow to the kidneys and seeks out cool rock shelters allowing regulation of its internal water levels.) both live in arid environments.

Kangaroos: lick their forearms + their saliva evaporating to help them cool (B). Produce sweat to reduce temperature or stop to conserve water
(P). Forearms are thin with dense networks of surface capillaries that aid heat loss (S). Produce dry faeces and concentrated urine to help
conserve water (P). Females produce milk from teats to help fulfil nutrient requirements of offspring (P). Seek shade when overheated (B).

Excretion (physiological): (sweating, exhalation or urination), removal of metabolic wastes/excess material

(carbon dioxide, nitrogenous wastes, excess salts/water), assisting in homeostasis. Kidney’s filter nitrogenous
wastes (occur as by-products of protein metabolism, occurring as highly toxic ammonia, needing to be diluted)
from blood for excretion. Some organisms use energy to convert ammonia to urea (excreted by mammals/
amphibians) or uric acid (birds turn ammonia into a highly concentrated paste), which are less toxic.
Converting ammonia to urea requires less energy than converting ammonia to uric acid (safer for offspring that
develop into eggs). However, urea requires more water to dilute. Ammonia is excreted by aquatic species.

Endocrine system: Messenger system comprising feedback loops of hormones released by glands directly into
circulatory system and target/regulate distant organs and all biological processes e.g., development of
brain/nervous system, metabolism, body sugar. Lasts longer and more general.

Types solubility Chemical structure Mode of action examples

steroid Fat Made from cholesterol Slow onset by long lasting, travel in the blood attached to a Testosterone,
soluble water-soluble carrier protein (hydrophobic), freely diffuse oestrogen, and
across the plasma membrane, bind to protein receptors in progesterone
the cytoplasm and nucleus to activate gene transcription.
Peptide: Water Small chains of amino acids Fast acting/transient, travel freely in the blood, can’t move Insulin and oxytocin.
soluble across plasma membrane, bind to receptors on cell surface
to activate signal transduction and gene transcription.
amine Fat/water Derivatives of the amino acid tyrosine Share properties with steroid and peptide hormones. Adrenaline.
(takes the amino acid tyrosine and is
changed slightly into a different chemical).
Hormones: signalling molecules secreted by special groups of cells- endocrine glands, to maintain homeostasis. Hormones travel in the blood
and in the fluid between cells. The chemical structure of a hormone determines its solubility, the way it travels through the body and how it
interacts with cells. Each type of hormone affects cells at different distances and their effects can last for varying periods of time. Some
hormones bind to a specific receptor on many different types of cells, while others only bind to a receptor on specific cells.
Forms of Signals to the same
hormone cell.
signalling

Signals to cells at distant sites in the

body.
Description Localised effect, cell releases a hormone Communicating with target cells nearby in Slow onset but long-lasting effects,
that is recognised by itself, occurs during neighbouring tissue. Causes a quick response last produced by cells in endocrine glands.
early development/ infections. Release a short time, hormone is quickly degraded.
hormones to activate themselves.
Example T-lymphocytes release a hormone in Blood clotting. When a blood vessel is damaged, Menstrual cycle. Luteinising/follicle-
response to a viral infection, which broken endothelial cells release von Willebrand stimulating hormone are produced in
stimulates the production of more factor which stimulus the production of platelets. the pituitary gland and target the
lymphocytes to kill infected cells. Platelets clot the blood/‘patch up’ the wound. ovary to produce and release mature
eggs.
Hormones in plants are produced in different plant parts e.g., stem tip, buds or root tips. They travel through the phloem and xylem and pass
between cells through plasmodesmata.
Hormone Function
Auxins Control primary elongation of stems and inhibit the lateral growth of branches. Control the growth of stems toward light (phototropism).
Cytokinin Produced in the tips of roots and travel upward through the xylem. Promotes cell division in growth areas. Balance between auxins and
cytokinin’s determines whether the plant produces roots or shoots.
Gibberellins Trigger seed germination and growth of the stem region between internodes (places from which leaves grow).
Ethylene Gas produced by plants that stimulates ripening of fruit, loss of leaves and flower death.
Abscisic acid Synthesised in chloroplasts of leaves- signal of dehydration. Regulates water loss by controlling the opening and closing of stomata.
Neutral pathways: vertebrate nervous system has two main parts: the central nervous system (CNS-
brain (processing centre of the body made up of the cerebrum (performs higher functions e.g., vision
hearing, speech, emotions and learning), cerebellum (coordinates muscle movement, maintains
balance and posture) and brainstem (connections the cerebrum and cerebellum to spinal cord and
performs many automatic functions e.g., breathing))/spinal cord(extension of brain that carriers
electrical/chemical signals between the brain and PNS)) and the peripheral nervous system (PNS).

PNS: consists of all the nerves that are not part of the CNS, that branch out of the organs, glands and
muscles, divided into the somatic and autonomic nervous systems, based on the parts of the body and the responses they control. Some
actions (breathing) are done without thinking (autonomic  divides into sympathetic- rapid, involuntary response
to danger known, parasympathetic- rest and digest conditions e.g., digestion/heart rate, and enteric- mesh-like
system of nerves in the gut that coordinate digestion). Others are voluntarily. (somatic)

Neuron: specialised type of cell that has dendrites (neuron receives a signal from another neuron), an axon (where
a neuron sends a signal to a neighbouring neuron) and a cell body (soma where the cell nucleus is located).
Transcription and translation occur here, and proteins are transported for use in dendrites and axons. Multiple
axons bundle together to form a fibre and fibres group together to form a nerve. Signals travel through neurons as
an action potential. Neighbouring neurons are separated by a small gap- synapse. When an action potential reaches the end of a neuron, it
triggers the release of neurotransmitters which travel across the synapse, and bind to receptors on the next neuron and the message continues
along the nerve.
Cnidarian (hydra) Echinoderm (sea star) Planarian (flatworm) Arthropod (bee) Mollusc (octopus)
Lack of true brain. A nerve ring in the middle. Small brain. Small brain Most complex of the
Have a nerve ‘net’ of nerve Five radial nerves extended Two nerve cords. Ventral nerve cord invertebrates. Neurons
cells dispersed across the outward along the arms. Simple peripheral nervous Ganglia (clusters of organised into specialised
body. system. connected neurons along lobes. Eyes have a similar
Eye spots detect light nerve cord) structure to human eyes.
Nerves are classified as afferent (made up of sensory neurons. Receive an input from the environment e.g., light and
transmit it to the CNS) or efferent (consist of motor neurons that transmit signals in the opposite direction from the
CNS to organs/muscles to initiate an action) based on the direction of the information flow. There nervous system of
invertebrates varies in its structure and complexity, and do not have a centralised nervous system (nerves
throughout the body can control actions independently of the brain).

Neutral system: control centre in negative feedback loops that maintain homeostasis. A change detected by a
receptor is transmitted as an electrochemical signal along nerves to a brain, which results in a signal that is
transmitted back along the nerves to cause a response.

Water balance in plants: plants need water for photosynthesis, respiration and the transport of nutrients and hormones. Water is drawn
upwards into the plant through the xylem by root pressure and capillary action. The passage of water from the roots to the organs and eventual
evaporation from the surface of leaves, is the transpiration stream. Stomata (openings/pores on the underside of the leaf; each pore is
surrounded by a guard cell which changes size of the pore by expanding/contracting depending on the time of day/environmental conditions)
play a critical role in transpiration and water balanced in plants. Functions: gas exchange and regulation of water movement by transpiration.
Plants need to balance the intake of CO2, needed for photosynthesis and growth, with the loss
of water by transpiration. Pore size is regulated by the active transport of potassium ions and
osmosis, which changes the turgor of guard cells and the size of the pore opening.

Physiological adaptation: Stomata open during the day when photosynthesis occurs and close
at night to reduce water loss. When water is scarce or salinity is high, the hormone abscisic
acid binds to proteins in guard cells, which results in shrinkage of the guard cells and closure of
the pore. This disrupts photosynthesis and growth but will only change when stress signal is
reduced.

Structural adaptions: to minimise water stress. plants in arid climates (e.g., cacti) have a reduced number of stomata, leaves with a waxy
(hydrophobic) surface and a reduced surface area, to minimise water loss via transpiration. Succulent plants can store water in their leaves and
stems, while white mangroves (Laguncularia racemose) secrete excess salt through glands near the tip of each leaf stalk.

Causes and Effects: Do non-infectious diseases cause more deaths than infectious diseases?

Non-infectious diseases: are caused by interactions between genes/environment (not contagious) e.g., genetic mutations. In higher income
countries they are becoming more common because of unhealthy diets, more sedentary lifestyles and longer lifespans.
 Causes/effects of non-infectious diseases: genetic/nutritional diseases, diseases caused by environmental exposure, cancer
Genetic diseases: caused by germline/somatic mutations AND mutations in mitochondria.
 Cystic fibrosis: autosomal recessive disease caused by germ-line mutations in the cystic fibrosis transmembrane conductance
regulator (CFTR) gene, which encodes a protein that maintains salt and water levels in the body. Caused by: deletion of a single
 amino acid (phenylalanine at position 508 (F508del)). The gene is transcribed but the polypeptide doesn’t fold correctly, and it is
degraded. Causes: accumulation of thick mucus in lungs, persistent coughing/difficulty breathing. Life expectancy: 40-50 years.
 Mitochondrial diseases (inherited by the mother): A cell contains many mitochondria, so there will be a mixture of normal/mutant
genomes in any one cell. Offspring only inherit mitochondria and any mutations from the mother. Generally cause muscular/
neurological problems, because these cells need high amounts of energy (MELAS syndrome). Severity depends proportion mutated.

Cancer: disease caused by the uncontrolled growth of abnormal somatic cells. This results in the formation of a tumour or in the case of blood
cancers, the accumulation of abnormal cells in the circulatory system.

Tumours can be benign (localised/will not cause long-term health problems and can be surgically
removed) or malignant (cancer cells invade nearby tissues and spread to other parts of the body
through the circulatory system- metastasis). Although a primary metastatic tumour can be removed
by surgery, the metastatic cancer cells settle at distant sites in the body, where they form secondary
tumours, causing organ failure/death. Cancer can begin in almost any cell type. Caused by mutations in genes that play an important role in
regulating normal cell division and DNA repair- tumour suppressors (slow down cell division, repair errors in DNA or activate protein signalling
proteins, signally proteins and transcription factors that promote cell division- Called oncogenes in mutated form) and proto-oncogenes.

Most cancers (90-95%) are caused by mutations in somatic cells (sporadic cancer). 5-10% are hereditary cancer caused by germ-line mutations
in tumour suppressor genes. E.g., someone inherits a mutant MLH1 gene will be diagnosed with Lynch syndrome and will be at an increased
risk of bowel cancer. BRCA1 mutation (breast cancer) is hereditary.

Melanoma: cells in the skin divide uncontrollably due to changes in the DNA of genes that control cell division. Caused by exposure to UV
radiation (sun/other). When left untreated spreads to deeper layers within the skill. Symptoms: fatigue, lump or thickening of skin, weight
changes, skin changes etc. Treatments: surgery to remove melanoma/affected lymph nodes. Chemotherapy: using drugs to stop/slow cancer
cells in the process of dividing/replicating. Radiation therapy: high power beams to kill melanoma.

Diseases caused by environmental exposure: e.g., toxic substances in contaminated food or water, inhalation of chemicals, radiation exposure.
Smoking and lung (two sponge-like organs in the chest that deliver oxygen to the blood and remove C02) cancer: Lung cancers normally start in
the cells that line the bronchi, bronchioles and alveoli. Smoking tobacco causes 85% of lung cancers (link demonstrated in epidemiological
studies in the 1940s). Animal experiments in the 1950s showed that mice developed cancer when the tar that forms from smoke inhalation was
injected into their bodies. 1960s: discovered chemicals in cigarettes bind to and mutate DNA. Cause: There are 7000 chemicals in cigarettes and
70 of these are carcinogens e.g., benzo(a)pyrene (BP). It is produced when tobacco is burned and inhaled into the lungs. When it enters the
body, enzymes metabolise BP into a compound that binds to guanine in DNA. This causes
DNA to bend, resulting in G-to-T transversions  causes uncontrolled cell division in the
lungs that metastasises. Decreases in mortality could have been due to the ‘Quit for life’
educational program, ban of smoking in public places, health campaigns to assit people to
stop smoking and plain packaging laws.

Diseases caused by autoimmunity: immune system recognises cells of the body as ‘non-
self’, attacking them and causing damage.

Type 1 diabetes: caused by the body’s inability to produce insulin to regulate the level of
glucose (carbohydrates in food are broken down into glucose) in the bloodstream. Glucose
triggers the release of insulin from beta cells in the islets of Langerhans in the pancreas.
Insulin binds to a receptor on the surface of cells, to activate a protein called GLUT4, which
moves to the plasma membrane and shuttles glucose into the cell.

The amount of insulin secreted by beta cells is regulated by glucose levels, insulin increases after a meal when glucose levels are high and
declines after glucose leaves the bloodstream. Caused by the immune system
attacking and destroying beta cells. Pancreas is unable to produce insulin.

Effects: kidney damage (diabetic nephropathy) and loss of vision (diabetic

retinopathy), which occur because of damage to and narrowing of the capillaries in
the kidneys and eyes. Symptoms: poor blood circulation and nerve damage in the legs
and feet (diabetic neuropathy). Increased risk of cardiovascular disease, stroke and
sexual impotence. Type 1 diabetes can be treated with insulin injections.

Nutritional diseases: caused by deficiencies in the diet, absorption problems,

overnutrition or eating disorders such as obesity. Obesity and type 2 diabetes:
excessive accumulation of fat (having a BMI over 30 is obese + having a large waist
circumference). Caused by: consumption of more calories than are burned by the
body. More common because of increased consumption of processed food, drinks high in sugar and sedentary lifestyles. Due to increasing rates
of obesity in younger people, more children, teenagers and young adults are being diagnosed with type 2 diabetes (90-95% of all diabetes).
People with the disorder produce insulin but the body does not use it effectively, so glucose does not enter the cells, resulting in the
accumulation of glucose. The body may eventually stop producing insulin. No cure but symptoms can be managed via lifestyle choices, drugs
and/or insulin therapy. Obesity: more common in developed countries- easier access to processed foods/sedentary lives.

 collect and represent data to show the incidence, prevalence, and mortality rates of non-infectious diseases:
 Incidence: number of new cases of a disease in a population in a specified time period (allows comparison of data sets between populations).
Prevalence: total number of disease cases in a population at a given time, regardless of when they first developed (proportion, percentage or
no. of cases per 10,000).
Mortality rate: number of deaths in a population in a specified time period. Useful to access the general health of a population.

 analyse patterns of non-infectious diseases in populations, including their incidence and prevalence:
Step 1: Read the title. E.g., see if it has incidence or prevalence data. (New cases/rate for incidence v. a percentage for prevalence). Read scale.
Step 2: Scan the map to identify any trends e.g., increasing/decreasing trends.
Step 3: Relate this to your knowledge e.g., Increased incidence of breast cancer (caused by mutations in tumour suppressor genes/oncogenes)
in Australian women, but a slow decline in the mortality rate. Breast Screen Australia tries to reduce illness/death from breast cancer. Women
aged over 40 can get a free mammogram every two years, and women aged 50-74 are actively invited to get a mammogram. The increased
testing/better technology have means that breast cancer is detected more often, but earlier  treated successfully  lower mortality.
 investigate the treatment/management, and possible future directions for further research, of a non-infectious disease.
TYPE 2 DIABETES: Early diagnosis is essential to prevent long-term health complications. Managed with simple lifestyle changes: e.g., healthy
diet low in processed food, regular exercise, and fewer sedentary periods. Treatment/management plans: medications, insulin therapy or
weight-loss surgery (if blood glucose levels cannot be managed through diet and exercise. Each drug works by controlling either the level of
blood glucose or insulin in the body). People with type 2 diabetes need to regularly monitor their blood glucose levels with a blood glucose
meter: measures the concentration of glucose in blood, especially before and after a meal or exercise.
Drug How? Side effects
Metformin Lowers glucose production in the liver. Makes body more sensitive to insulin, so it is Nausea, diarrhoea, abdominal pain
used more efficiently.
Sulfonylureas Help the body to secrete more insulin Weight gain and low blood sugar levels
Glinides Stimulate the pancreas to secrete more insulin
Insulin therapy Increases the amount of insulin in body Risk of low blood sugar and high cholesterol
Weight-loss surgery (management) changes shape of digestive system to limit amount of food that can be eaten. Side effects: reduced uptake
of nutrients and osteoporosis. Best way to manage type 2 diabetes continues to be through lifestyle (reduces the likelihood of medical
intervention AND benefits society because it reduces the cost of treating medical complications caused by the disease). Advancements:
Future direction Description
Artificial pancreas digital device behaving like a pancreas by releasing insulin into the body in response to changes in blood glucose levels.
Islet cell transplantation Healthy islet cells which contain beta cells that produce insulin, may be transplanted into pancreas of people with the disease.
New drug development May be more drugs available in the future or personalised medicine.
Genetic testing Whole-genome sequencing and GWAS studies may identify SNPs or alleles that increase the risk of type 2 diabetes. Prevention
strategies could start earlier in people carrying these genetic variants.
 evaluate the method used in an example of an epidemiological study are descriptive or analytical.
Descriptive study: uses exiting data to understand patterns that can be attributed to a disease or event. Takes a ‘snapshot’ of the proportion of
people with a disease or an outcome at a point in time.

Analytical studies: observational (establish the cause of a non-infectious disease by analysing the association between an exposure and an
outcome in a population. Main types of observational study: cohort studies and case-control studies) and experimental.

Cohort study (prospective- follows a large group of people over a period of time and measures
the frequency of disease in exposed and non-exposed individuals). Begins with the
recruitment of a large group of people who do not have a disease and are representative of
the population. Each person is interviewed at the beginning of the study to gather data and
are followed over time with regular interviews being conducted every few years, to gather
disease
( )
exposure
information from their lifestyle. Once data is gathered a relative risk , is
disease
( )
no exposure
calculated to indicate the likelihood that a particular exposure increases the risk of the non-infectious disease.
Framingham Heart Study: by the United States Public Health Service in 1948 to investigate risk factors for cardiovascular disease. Studied 5,209
people between ages of 30-62 without CVD (originally people didn’t want to volunteer). Renewed (2019) for an additional six years and $38
million dollars from the National Heart, Lung, and Blood Institute (NHLBI). Responsible for numerous research breakthrough e.g., smoking’s
contribution to heart disease risk (1960) AND the benefit of physical activity and obesity increasing heart disease risk (1967).
 Strengths: Data should be collected at regular intervals to get an accurate measurement. Study should follow for enough time for the
disease to be detected. Attempts to avoid bias as people are representative of the population as a whole and is prospective.
 Limitations: large numbers of people were required. Study design may not be suitable if they were investigating a rare disease. Took a
long time and expensive. Difficult to get follow-up data for some patients who moved.

Case-control study (retrospective- disease status of individuals in a population is known at the start o and researchers ‘work backwards; to
measure the frequency and amount of exposure in people with (cases) and without the disease (controls)). Begins by identifying cases and
controls who are similar to each other (minimises other factors that might be associated with the outcome (confounding variables)). Gather
information using interviews or surveys. Odds ratio: calculated from the data to determine whether there is a significant association between
an exposure and a disease. An odds ratio greater than 1 is evidence that the exposure causes the disease.
 1950 Doll and Hill study: After World War 1 there was a rapid increase in lung cancer, appearing to correlate with an increase in tobacco
consumption. Identified and interview patients from 20 London hospitals. Interviews were conducted twice many months apart to confirm
responses. Took two years. About 2000 cancer cases were recruited to the study. Note: separate analysis distinguished between someone who
had smoked at any time in their life, smoked a pack a day or had quit at some point in their life teasing apart the effects of the amount and
time of exposure. An odds ratio of 14 was calculated concluding that tobacco smoking was a significant risk factor for lung cancer.
 Well suited to investigating rare outcomes or slow-developing disease. Relatively inexpensive because it was quick to conduct and
required fewer subjects needed. Cases were matched as closely as possible to controls to reduce bias. Questionnaire was well
planned and could distinguish between different types of smokers.
 Information on exposure and past history was primarily based on interview and may have been subject to recall bias (difficult or
impossible to validate information). Recruiting the control group from a hospital could introduce other confounding variables such as
other health issues. Participants with lung cancer may provide more detailed or more accurate information than those without it
because they are motivated by having lung cancer and want to understand why.
 evaluate, using examples, the benefits of engaging in an epidemiological study:
Epidemiology: field of research in which large populations of people are studied to provide insights into patterns, risk factors and exposures
associated with diseases/events and to determine the presence/absence of conditions). Data is collected/compared between 2 groups of
people, one with the one without the disease, treatment, or exposure. Statistical methods are then used to determine whether there is a
statistically significant relationship. Conclusions are used to inform public health programs to control, prevent and treat diseases.
Epidemiological reports require data accuracy/validation showing the data is consistent and meaningful and needs to provide a correlation.
 Down syndrome (trisomy 21): genetic disease that is caused by the presence of three copies of chromosome 21 showed that there is
a correlation between the age of the mother and the incidence of the disease, e.g., a 35 year old woman has a 1 in 2350 chance
whereas a 45 year old woman is 1 in 30. All pregnant women over the age 35 or in an identified risk category are offered prenatal
testing (amniocentesis: used to detect birth defects/genetic diseases e.g., down syndrome providing time for decisions to be made).
 Cardiovascular disease: Education and public campaigns that make people aware of the risk factors (diet, physical activity, alcohol,
smoking) provides information that can motivate people to change their lifestyle to reduce their chances.
Limitation: data often gives a statistical probability of getting the disease for a particular population which causes some people to ignore the
data and some people to need counselling when given their chances of developing a particular disease.

Benefits: provides individual people with the information to reduce risk factors and for society to bring in legislation, codes of practice and
public health campaigns that will reduce the incidence, prevalence and mortality rate due to non-infectious disease. Improves our knowledge
of the causes of non-infectious diseases and helps to develop treatment/management methods.
Study type Benefits/strengths Limitation
Case Individual satisfaction from contributing to knowledge about health Individuals are unlikely to benefit directly from participation.
control: for future generations/benefit other people. Society benefits from Retrospective nature can make data more subject to bias from
the addition of knowledge about exposure and risk factors and their recall of exposures/lifestyle choices. Needs to be a suitable
contribution to disease. matching of cases with control subjects
Cohort: Individual satisfaction from contributing to knowledge about health Individuals are unlikely to benefit directly from participation.
for future generations. Society benefits from prospective Large cohort studies can be expensive/timely with many years of
measurement of different exposures/correlating these with disease. follow-up required.
Prevention: How can non-infectious diseases be prevented?
 Use secondary sources to evaluate the effectiveness of current disease-prevention methods (stop diseases from developing).

Educational programs and campaigns (encourage lifestyle modification): SunSmart program: skin cancer (melanoma) is the most common
cancer in Australia- changes in behaviour to reduce our exposure to the sun also make it one of the most preventable. Over the past 40 years,
the SunSmart program improved people’s awareness of the link between skin cancer and sun exposure through television advertisements (e.g.,
Slip! Slop! Slap! Seek! Slide!) and a free app that provides daily information about UV light levels. One of Australia’s most successful health
education programs. Estimates that it prevented more than 43,000 skin cancers and 14000 skin cancer deaths and saved the public healthcare
system $92 million over its first two decades. $2.22 return for every dollar spent.

Genetic engineering: gene therapy can be used to treat or prevent non-infectious diseases. Replaces a defective gene with a functioning copy
of the gene via viral vectors or CRISPR-Cas9. Gene therapy was approved for use in Australia (2021) to treat a type of retinal dystrophy that is
caused by an autosomal recessive mutation in the RPE65 gene. RPE65 is normally expressed in the retinal cells in the eye that detect light, but
mutations cause blindness at a young age. Gene therapy restores vision by introducing a functioning copy of RPE65 into the retinal cells using a
viral vector (cloned in viral vector which infects cells in the retina inserting a functioning copy of the gene, improves photoreceptors/vision).

In 2021, CRISPR-Cas9 was used in the USA for the first time in an adult to treat sickle cell disease by editing genes involved in globin expression.
Future: CRISPR-Cas9 may be used to correct an inherited mutation in an embryo e.g., F508del mutation in the CFTR gene that causes cystic
fibrosis. If this is done in a one-cell embryo, all cells in the body will have corrected copies of the gene (true disease prevention).

Mitochondrial transfer: technique that can prevent non-infectious diseases caused by mutations in mitochondrial genes. MELAS syndrome:
caused by mutations in the MT-TL1 gene, which affects the nervous system and muscles. A child born using mitochondrial transfer will have
genomes from three parents: nuclear DNA from father’s sperm, the nuclear DNA from mother’s egg and the mitochondrial genome from the
donor egg. All forms of genetic engineering are expensive and only prevent disease in a small number of people- inaccessible. Process: Egg
containing mitochondria with mutation, nuclear DNA is removed and transferred into donor egg with healthy mitochondria, donors nuclear
DNA is removed. Institute for Clinical and Economic Review suggests average cost of a gene therapy is between $1-2 million per dose.

Population screening: National Bowel Cancer Screening Program- relatively cheap medical tests of at-risk members of the community to
detect diseases at an early and treatable stage. Aims to reduce the number of bowel cancer deaths by detecting it at an early stage with faecal
 occult blood tests. Incidence of bowel cancer increase after the age of 40 years and the tests are free to Australians aged 50-74 years. Bowel
cancer begins as a slow-growing benign polyp that releases small amounts of blood, which mixes with faeces. Can be tested for with a free
collection kit. If blood is detected, the person may have a colonoscopy, and the polyp can be removed before it turns into cancer. 2017 study:
Cancer Council Australia screening for bowel cancer can reduce deaths from the disease by 15-25%.

Technologies and Disorders: explain a range of causes of disorders by investigating the structures and functions of the relevant organs.
Hearing loss: Sound is produced when an object vibrates, creating a longitudinal wave. The wave is
propagated by vibrating particles that move back and forth in the same direction as the movement of
the wave. The vibration is detected by specialised structures in the ear, converted into an electrical signal
and interpreted as sound by the brain. Wavelength: distance between two consecutive compressions or
rarefactions. Amplitude is the distance between the particles (measured in decibels, higher amplitude =
louder, closer particles = higher the amplitude). Frequency: number of compressions or rarefactions that
pass a point in a fixed amount of time (determines pitch- Hertz. Auditory field of humans is 20-20000
Hz).

EAR: hearing enables us to communicate and navigate in

response to audible stimuli (help us keep our balance). The ear is divided
into the outer ear (captures sound waves), middle ear (transfers
vibrations to inner ear), and inner ear (converts vibrations into nerve
impulses to be interpreted by the brain). Sound enters the ear passing
through the external auditory canal to the tympanic membrane which
vibrates in response to the sound. The membrane has 3 bones, called
the auditory ossicles, the malleus, the incus and the stapes. This is held
in place in the middle ear.

The cochlea is a hollow, fluid filled, coiled structure in the inner ear that contains the corti (organ of hearing). When the oval window is
compressed by the ossicles, waves travel through the cochlea fluid, causing the basilar membrane which consists of support cells and
mechanosensory cells (hair cells) to flex. The hair bundles (cilia on the tops of the hair cells) vibrate and press
against the tectorial membrane, resulting in the release of neurotransmitters. This auditory signal travels via
the vestibulocochlear nerve to the brain.

Causes of hearing loss: Can be mild or profound and is categorised based on which region of the ear is
affected. Conductive hearing loss (usually temporary): sound waves cannot reach the inner ear, caused by
defects in the outer or middle ear (blockage from ear wax/benign tumours, infections in the middle and outer
ear, or a perforated eardrum).

Sensorineural hearing loss (often permanent): occurs because of defects/damage of the cochlea in the inner
ear or the auditory nerve and is often permanent. Possible causes include:
 Congenital (absent at birth or caused by events such as exposure to loud sounds, diseases and
getting old) and acquired hearing loss from viral infections (e.g., German measles and chickenpox).
 Side effects from toxic drugs (e.g., cisplatin used to treat cancer and quinine for malaria)
 Syndromes e.g., Treacher Collins syndrome and germ-line mutations. Autosomal recessive mutations in the GJB2. Loss of expression
affects hair cells of the cochlea.
 Age-related hearing loss (or presbycusis) which is the gradual loss of hearing in both ears.
 Physical trauma such as a fractured skull or loud noise.

Other causes: small bones in middle ear are damaged/fused together so do not carry
sound vibrations to the cochlea very well, hair cell receptors in the cochlea are damaged
and have lost their sensitivity.

Visual disorder: eyes receive/convert light into nerve impulses that are interpreted by the
brain as images of objects in the environment. The human eye perceives the visible light
(the amplitude determines the brightness of the light, while the wavelength determines
the colour (red = longer wavelength)). Invertebrates and reptiles can detect UV and
infrared radiation. Reflection: light “bounces off” a surface. Refraction: light changes
direction (angle dependent on material) as it passes from one medium to another.

EYE: light enters the eye through the pupil. Contraction and retraction of muscles in the iris control the amount of light that enters. Light then
passes through the cornea, lens, and fluid-filled eyeball, which refract light to a focal point on
the retina at the back of the eye. The retina (consists of specialised sensory neuron cells-
photoreceptors (TYPES: rod: very sensitive to light but cannot differentiate between
wavelengths functioning best in low light AND cone: contain pigments- rhodopsin’s for colour
vision. Rhodopsin’s contain one of the three opsins, sometimes called red (L-cone), blue (S-
cone) and green (M-cone)) which detected colour/light and are localised in the macula)
generates a nerve impulse (electrochemical message from a photoreceptor) that is
transmitted through a bipolar cell, a ganglion cell and then via the optic nerve to brain.
Structure Description Function
Conjunctiva Membrane that lines the sclera and inside the eyelids Protect/lubricates the eye with mucous and tears,
Cornea Transparent membrane made from collagen protein. Barrier protection for eye/refracts light rays passing through the eye.
Sclera Dense connective tissue around the whole eye. Provides support and maintains the shape of the eyeball.
Choroid Thin layer of tissue that is rich in blood vessels. Provides blood supply to the retina.
Aqueous Humour: Thin, transparent, water-like fluid. Maintains pressure, provides eye nutrition, and refracts light.
Iris Coloured, muscular ring around the pupil. Controls the amount of light into the eye.
Pupil Black opening at the centre of the iris. Allows entry of light into the eye.
Lens Transparent, biconvex, flexible protein disc. Main refractive structure of the eye that focuses light on the retina.
Ciliary body Ring of tissue containing the ciliary muscle. Holds the lens in position and changes its thickness.
Vitreous Humour: Transparent gel-like substance between the lens + retina. Maintains the spherical shape of the eye; has some refractive ability.
Retina Light-sensitive layer of tissue at the back of the eye. Converts light to electrochemical signals.
Macula Pigmented area near the centre of the retina Provides sharp, clear, straight-ahead vision.
Optic nerve Paired nerve that connects the eye to the brain. Transmits nerve impulses from the retina to the brain.
Eye muscles Sets of muscles attached from the eye to bone. Rotates the eyeball within the eye socket of the skull.
Light enters the eye at different angles depending on the relative distance of objects from. The biconvex shape of the eye’s lens and its ability to
change shape to accurately focus light on the retina (accommodation) enables us to see objects at different distances. We also have binocular
vision (helps with depth perception).

Causes of visual disorders: Refractive errors (most common; occurs when light doesn’t focus properly on the retina; generally genetic): myopia
(short-sightedness- eyeball is too long- concave), hyperopia (far-sightedness- eyeball is too short- convex) and astigmatism. Presbyopia
(refractive error) occurs when our eyes gradually lose the ability to focus on close-up objects, usually beginning in the early to mid-forties,
caused by a hardening of the lens which becomes less flexible (less able to accommodate light entering the eye).
Visual disorder Cause
Cataracts Blurry vision resulting from the breakdown of proteins and fibres in the lens (discolouration of the lens).
Glaucoma Group of eye diseases seen in older people, results from progressive damage to the optic nerve caused by increased pressure in the eye.
Macular Degeneration: Deterioration of cells in the retina, resulting in loss of central vision.
Retinopathy spotty/blurry/loss of vision caused by damage to retina from abnormally growing/damaged blood vessels. Symptom of type 1/2
diabetes.
Loss of kidney function: The kidneys (in the urinary system) are two bean-shape organs, located below the rib cage
on either side of the spine which filter the blood to remove nitrogenous wastes, excess fluids, and salts. They are
filtered by nephrons to form urine which can be excreted from the body. Helps to balance the level of water, salt ions
and minerals in the body and produce hormones (e.g., renin, erythropoietin, and calcitriol) that regulate blood
pressure, red blood cell production and the absorption of calcium in the intestine.

Blood enters each kidney via afferent arteriole, which branches into capillaries, which enter millions of nephrons- act
as filtering and reabsorption units. Each nephron consists of a filtering structure- glomerulus: cluster of narrow
capillaries that allows the blood to enter the Bowmans capsule (filters blood based on size- only small particles e.g.,
water/dissolved minerals can enter passively), as the fluid filters it travels along the tubule. Proximal
convoluted tubule (secretion: active transport of unwanted substances e.g., drugs from the blood and
reabsorption: passive return of water, ions and glucose from filtrate to blood), loop of Henle (main site
of water reabsorption into the blood, impermeable to ions) and distal convoluted tubule (further
reabsorption of ions regulated by ADH). Any substances that do not get reabsorbed passes through
collecting duct into ureter and is released from the body through the urethra via excretion. Urine
consists of 95% water, 5% nitrogenous waste and ions e.g., sodium, potassium, hydrogen, and calcium.

Causes of kidney disorders: disorders are acute (kidneys suddenly lose their ability to filter waste
which accumulates and changes the chemistry of the blood) or chronic failure (gradual loss of function
over many years. It results in the accumulation of excess fluid, electrolytes and wastes in the blood).
Causes of acute kidney failure:
 Reduced blood flow to the kidneys- results from blood clots and high cholesterol (which block blood vessels leading to the kidney),
severe dehydration, liver failure, infections, toxins, and blood pressure medication.
 Urine blockages- ureters can get blocked with kidney stones (hard mineral deposits that build up in the kidney) or tumours which
stop the flow of urine out of the body.
Kidney failure requires ongoing treatment using renal dialysis/by having a kidney transplant without these treatments’ kidney failure is deadly.
Kidney disorder Cause of disorder
Diabetic nephropathy A symptom of diabetes. Abnormal filtering from the glomerulus into Bowman's capsule results in blood cells and large proteins
leaking into the urine.
Hypertension (high blood pressure) The walls of thin blood vessels (arterioles) in the kidney thicken and reduce blood flow to the kidney.
Glomerulonephritis Inflammation of the glomeruli. This usually occurs after a bacterial infection and is the most common cause of kidney failure.
Interstitial nephritis Inflammation of the kidney's tubules and surrounding structures
Polycystic kidney An inherited genetic disorder that causes cysts to grow in the kidney. The most common type is caused by autosomal dominant
disease mutations in the PDK genes. There is also a rarer autosomal recessive form caused by mutations in PKHD1.
Vesico-ureteral reflux An abnormal ureter causes urine to flow back from the bladder into the ureters or kidneys. It can cause infections and scarring.
Pyelonephritis Recurring kidney infections caused by bacteria or viruses
  investigate technologies that are used to assist with the effects of a disorder.

Hearing loss- Cochlear implants: used by people with profound sensorineural loss when hearing aids are
not beneficial. Cochlear implants bypass the outer and middle ear and deliver the sound or vibrations
directly to the auditory nerve (implanted into the skull with one or more electrodes connecting to the
auditory nerve). Normal hearing is not restored. A person needs therapy and practice to learn how to hear.
The implant provides an increased awareness of sounds in the environment and improves the ability to
understand through lip reading. Sounds are picked up by a microphone and electronically analysed by a
processor unit. The processor converts the sounds into a set of electrical signals. These signals are
transmitted as radio waves through the flesh to the cochlear implant which was placed in the skull by surgery. Procedure is expensive, those
born deaf and given an implant rarely learn to interpret the new sensations and it might take years of training or therapy. If there is damage to
the auditory nerve as well as a cochlea it doesn’t help. Doesn’t restore normal hearing. Can allow someone to perceive sound which enhances
their ability to communicate/respond.
Bone conduction implants: used to treat conductive or mixed hearing loss or single-sided deafness. System consists of an external sound
processor and an implant.

Hearing aids: amplifies sounds to improve hearing in people with sensorineural hearing loss. Small,
removable electronic devices that consist of a microphone (detects sound waves and converts them to
electrical signals which are sent to an amplifier), an amplifier (increases the power of the signals and then
sends them to the ear through a speaker) and a speaker. Improve hearing/speech comprehension. It
picks up sound and sends amplified sounds down the person’s ear canal. Can’t help a patient who is
profoundly deaf (Only work if there are some surviving hair cells in the cochlea).

Visual disorders: Glasses, contact lenses and laser surgery: Refractive errors can be treated with glasses
(relatively inexpensive technology that can restore normal vision to a person with myopia or hyperopia)
or contact lenses (soft, flexible lenses which are worn in contact with the eyes conjunctiva).
 MYOPIA: corrected by concave lenses which refracts the light rays, so they are
diverging as they enter the eye making the vision clear/focused.
 HYPEROPIA: Corrected by glasses containing convex lenses, compensating for
the lack of refractive power of the eye’s lens. The extra lens bends the light rays
together, which brings the focus position forward and onto the retina.

People can also have the shape of the cornea permanently changed with corrective laser
surgery (corrects the angle of the refraction of light so that it focuses correctly on the retina). An intraocular lens (IOL) is a permeant lens
placed inside the eye. These artificial lenses are made from plastic, and they work in the same way as a natural lens. Using just a local
anaesthetic, Microsurgery is used to remove a cloudy lens, usually caused by a cataract, and implant the IOL behind the iris. An IOL fits
perfectly into the lens capsule and results in correct focus and clear vision (takes 30 minutes and replacement lens cost is very low). The Fred
Hollows Foundation have restored the vision of over a million Cataracts sufferers in Africa, Asia and the Pacific. The bionic eye is a future
technology that is currently being trialled to restore sight in people with severe vision loss caused by degenerative diseases (bypasses the
photoreceptors in the retina). Camera captures image and transmits data to an external body processing unit  Data processed and sent to
implanted system via external wire  Implant receives wireless signals from external unit and sends them to retinal implant via implant wire 
implanted electrode array stimulates retina  electrical signals sent from retina via visual pathway to vision processing centres in the brain.

LASIK: permanently changes the shape of the cornea. Only takes 15 minutes per eye. A lid speculum will hold the eyelid open, then a suction
ring will be placed on the eye. A microkeratome will then be attached to the suction device and a corneal flap will be created and lifted to one
side. The doctor will then use pulses from a computer-controlled excimer laser to reshape the cornea by vaporising tiny portions of the interior.
The corneal flap will then be replaced.

Loss of kidney function: Each kidney performs half the kidney function in a body. A single kidney can increase in size and carry out 75% of the
normal function of both kidneys. If a person’s kidney function decreases to about 10-15% of normal kidney, the only treatments are dialysis or
a kidney transplant. Loss could be due to nephron failure (sugar reacts with proteins to stop proper function).
Dialysis: medical technique that replaces the normal filtering function of the kidneys. Either haemodialysis (filtering of blood occurs outside the
body. Most common type and is ideal for people with reduced kidney function. It is done in a hospital, a dialysis centre or at home. A session
takes about four or five hours and needs to be done three days per week.) OR peritoneal dialysis (filtering of the blood occurs inside the body.
It allows continuous filtration, can be done at home or at work, and is not as disruptive to a person’s daily activities as haemodialysis. Not
suitable for people with obesity or abdominal scarring- less effective).
 Blood is removed through needle. It's sent across a special filter, which removes harmful
substances from your blood. Then returned.

Kidney transplant: using a donated kidney from a living/decreased person. If a kidney comes from a
living donor, the transplant can be done when the recipient’s kidney is close to failing but before
dialysis. People can register as organ donors. The recipient must take anti-rejection drugs for the rest
of their life, to prevent the kidney being attacked by their immune system.

Kidney stones: treated by breaking them up with stock waves and smaller stones are then passed
naturally in the urine. They can also be surgically removed (nephrolithotomy) through a small
incision in the back.
  Evaluate the effectiveness of a technology that is used to manage/assist. Kidney (filters 200 L a day)/renal dialysis:
 Benefits: Extends the person’s lifetime, Filters out waste, toxins, and excess water, increases energy levels and Improves appetite.
Improves overall quality of life, works where kidney failure cannot (e.g., when someone has FSGS which can reoccur in transplants).
 Limitations: It is not a cure- kidney function does not return to normal, need to plan life around dialysis sessions (disruptive), Invasive:
brings a vein to the surface to access the vein easily, Can cause cramps and changes in blood pressure, Supplements and hormone
therapy may be needed to correct deficiencies (e.g., vitamin D/hormone erythropoietin), uncomfortable. Recovery time: 2-4h.

Designing experiments: remember a control (with nothing), have another variable e.g., just water. Repeat the experiment, select appropriate
safety equipment including gloves and safety clothing, measuring techniques, incubation temperature.