Why don’t we study the genetics of…

Why don’t we study the genetics of… Tim Jolliffe and Joe Kalin

Adult Type 2 Diabetes • Diabetes is caused by a problem in the way the body makes insulin, which moves glucose into cells. • Type 2 Diabetes creates insulin resistance. As a result, glucose does not enter the cells of fat, the liver, and muscles, leaving high levels of glucose build up called hyperglycemia. • Type 2 Diabetes usually occurs slowly over time and is most commonly diagnosed to those who are overweight. Thin people who are diagnosed are usually elderly. • Low activity level, poor diet, and excess body weight increase the risk for Type 2 Diabetes.

Adult Type 2 Diabetes • Symptoms • Bladder, kidney, skin, or other infections that are more frequent or heal slowly • Fatigue • Hunger • Increased thirst • Increased urination • The first symptom may also be: • Blurred vision • Erectile dysfunction • Pain or numbness in the feet or hands

Adult Type 2 Diabetes • Complications • Eye problems • Infections and sores on the feet and skin • Hard to control blood pressure and cholesterol • Nerve damage • Kidney damage • Prevention • Healthy body weight • Active lifestyle • Staying up to date with vaccinations

Adult Type 2 Diabetes • Treatment • Healthy and balanced diet • Regular exercise • Prescribed medicine • Blood sugar levels regularly checked (along with the rest of the body) • Family history and genes seem to play a role in causing Type 2 Diabetes, but the exact cause has still not been found.

Macular Degeneration • Macular Degeneration, commonly known as age-related macular degeneration (AMD), describes a variety of conditions that affect the macula of the eye; therefore, central vision is greatly affected. • The two types of AMD are dry (atrophic) and wet (exudative or neovascular). • AMD is the leading cause of blindness in the United States for people over the age of 55.

AMD (Dry) • Gradual breakdown of cells in macula resulting in gradual breakdown of central vision • Yellow-white spots called drusen are found on the back of the eye are the key identifiers for the dry type • People with these spots often have excellent vision and no symptoms • Dry AMD is fortunately more common then the wet form

AMD (Wet) • Abnormal blood vessels grown under the retina • These vessels leak, bleed, and scar the retina often destroying central vision • Unlike dry AMD, wet AMD causes rapid vision loss

AMD

AMD • Treatment (dry) • No cure…screening should continue • Treatment (wet) • Medications ( Eylea, Lucentis, and Macugen) • Laser photocoagulation • Photodynamic therapy (PDT) • Common causes • Age, gender, pigmentation, iris color, race, sleep apnea, exposure to sunlight, certain medications, and family history…but still not exactly sure what part of the history causes AMD

Hypertension • Hypertension (also called high blood pressure) is a medical condition which occurs when a person's blood pressure is consistently higher than normal. • Blood pressure is a measurement of the force against the walls of your arteries as your heart pumps blood through your body. • The top number is called the systolic blood pressure, and the bottom number is called the diastolic blood pressure. • Normal blood pressure is when your blood pressure is lower than 120/80 mmHg most of the time. • High blood pressure (hypertension) is when ones blood pressure is 140/90 mmHg or above most of the time. • If the blood pressure numbers are 120/80 or higher, but below 140/90, it is called pre-hypertension • A person is more likely to be told their blood pressure is too high as they get older. This is because the blood vessels become stiffer as they age. When that happens, the blood pressure goes up. High blood pressure increases the chance of having a stroke, heart attack, heart failure, kidney disease, and early death.

High Cholesterol • Cholesterol is the waxy substance found in the fat of the body and helps build new healthy cells. • When a person has high cholesterol, they may develop fatty deposits in their blood vessels. Eventually, these deposits make it difficult for enough blood to flow through the arteries. The heart may not get as much oxygen-rich blood as it needs, which increases the risk of a heart attack. Decreased blood flow to the brain can cause a stroke. • High cholesterol (hypercholesterolemia) can be inherited, but it's often the result of unhealthy lifestyle choices, and thus preventable and treatable. A healthy diet, regular exercise and sometimes medication can go a long way toward reducing high cholesterol.

Heart Disease and Stroke • Heart disease is any condition of the heart that impairs its functioning. • A stroke is the sudden loss of brain functions caused by an interruption in the supply of blood to the brain. • The leading factors for heart disease and stroke are high blood pressure, high cholesterol, cigarette smoking, diabetes, poor diet and physical inactivity, and obesity. • The risk for heart disease and stroke seem to be influenced by genetics, too.

Cancer and Tumors • Cancer is a group of many diseases where the human body’s production of new cells is too active. Cancer can be treated, but the cure rate depends on which variety the person has, how soon it was diagnosed, and how healthy the person’s body is. • A tumor is a lump of cells that interferes with the body’s normal functions • Many factors can cause cancer including hormonal imbalances, genetic abnormalities, some viral infections, nutritional disorders, and immune system disorders.

Cancer and Tumors • Prevention • You can reduce your chances of getting some cancers by: • Not smoking or using other tobacco products • Using sun safe methods such as hats, long-sleeves, long pants and sunscreen • Eating a health diet • Getting daily exercise • Genetics definitely has a role in causing cancer, but the definite cause is still uncertain. One whose family is known for previously having cancer will be closely monitored to quickly catch any cancer and eliminate it.

Bipolar Disorder (Manic/Depressive) • It is a major affective disorder, or mood disorder, characterized by dramatic mood swings • Bipolar disorder is a complex genetic disorder • Bipolar disorder was formerly called manic depression • Bipolar disorder usually appears between ages 15 and 24 and persists throughout a lifetime. • Bipolar disorder is a lifelong condition that can affect both how one feels and how one acst. It is a mood disorder thought to be caused by chemical imbalances in the brain that can result in extreme swings in mood—from manic highs to depressive lows. • There appears to be some genetic predisposition, although no specific genetic defect has yet been detected. It usually appears in late adolescence or early adulthood and continues throughout life. Potential causes, such as increased stress or a traumatic emotional event, are many and varied; experts believe a combination of factors may act as a trigger.

ADHD • Attention Deficit Hyperactivity Disorder • ADHD is a problem with inattentiveness, over-activity, impulsivity, or a combination • The symptoms of ADHD fall into three groups: • Lack of attention (inattentiveness) • Hyperactivity • Impulsive behavior (impulsivity) • Although the exact causes of ADHD are not known, it is clear that specific parts of the brain are involved including the frontal cortex, parietal lobe, and possibly the cerebellum. Studies comparing the brains of children with ADHD and those without the disorder show that children with ADHD have weaker brain activation of the frontal area when responding to tasks that require inhibition. Children with a parent or sibling with ADHD are 2–8 times more likely to develop the disorder. Scientists have suggested at least 20 genes that may make a person more vulnerable to ADHD or contribute to the disorder in some way. • The use of stimulant drugs has proved to be the most effective treatment for ADHD. These drugs generally increase the availability of neurotransmitters in the brain. • Researchers believe that this is related to an imbalance in certain neurotransmitters (the chemicals in the brain that carry messages between nerve cells). Deficits in the neurotransmitters dopamine and norepinephrine are strongly suggested.

Alzheimer's Disease • Alzheimer's disease (AD) is the most common form of dementia among older people. Dementia is a brain disorder that seriously affects a person's ability to carry out daily activities. • Alzheimer’s disease begins with memory loss and leads into more serious affects where the victim must be totally taken care of (worsens over time). • AD usually begins after age 60. The risk goes up as the person gets older. The risk is also higher if a family member has had the disease. No treatment can stop the disease. However, some drugs may help keep symptoms from getting worse for a limited time.

Alzheimer’s Disease

Alcohol Dependency • Alcoholism (alcohol dependence) and alcohol abuse are two different forms of problem drinking. • Alcoholism is when one has signs of physical addiction to alcohol and continues to drink, despite problems with physical health, mental health, and social, family, or job responsibilities. Alcohol may control their life and relationships. • Alcohol abuse is when one’s drinking leads to problems, but not physical addiction. • There is no known cause of alcohol abuse or alcoholism. Research suggests that certain genes may increase the risk of alcoholism, but which genes and how they work are not known. • How much one drinks can influence the chances of becoming dependent. Those at risk for developing alcoholism include: • Men who have 15 or more drinks a week • Women who have 12 or more drinks a week • Anyone who has five or more drinks per occasion at least once a week

Alcohol Dependency • Completely stopping the use of alcohol is the ideal goal of treatment. This is called abstinence. A strong social network and family support are important in achieving this. • Completely stopping and avoiding alcohol is difficult for many people with alcoholism. There will be times when it is difficult. One should aim to avoid drinking for as long as possible. • Some people who abuse alcohol may be able to simply reduce the amount they drink. This is called drinking in moderation. If this method does not work, one should try to quit drinking completely.

Autism Spectrum - ASD • The Autism Spectrum Disorders are different levels of autism that affects the human’s social interaction, communication, and behaviors and interests. • Each child with an autism spectrum disorder will have his or her own individual pattern of autism. Sometimes, a child's development is delayed from birth. Other children with autism develop normally before suddenly losing social or language skills. In some children, a loss of language is the impairment. In others, unusual behaviors (like spending hours lining up toys) predominate. • There are three main types of autism spectrum disorder, and two rare, severe autistic-like conditions: Asperger's syndrome, Pervasive developmental disorder, Autistic disorder, Rett syndrome, and Childhood disintegrative disorder.

Autism Spectrum - ASD • Common treatments include specialized therapies, behavioral training and management, and medicines. • The exact cause for the Autism Spectrum is still unkown.

Epilepsy • Epilepsy is a brain disorder in which a person has repeated seizures (convulsions) over time. Seizures are episodes of disturbed brain activity that cause changes in attention or behavior. • Epilepsy occurs when permanent changes in brain tissue cause the brain to be too excitable or jumpy. The brain sends out abnormal signals. This results in repeated, unpredictable seizures. (A single seizure that does not happen again is not epilepsy.) • Epilepsy may be due to a medical condition or injury that affects the brain, or the cause may be unknown (idiopathic).

Epilepsy • Common causes of epilepsy include: • Stroke or transient ischemic attack (TIA) • Dementia, such as Alzheimer's disease • Traumatic brain injury • Infections, including brain abscess, meningitis, encephalitis, and AIDS • Brain problems that are present at birth (congenital brain defect) • Brain injury that occurs during or near birth • Metabolism disorders present at birth (such as phenylketonuria) • Brain tumor • Abnormal blood vessels in the brain • Other illness that damage or destroy brain tissue • Use of certain medications, including antidepressants, tramadol, cocaine, and amphetamines

Epilepsy • Treatment for epilepsy may involve surgery or medication. • Complications include: • Difficulty learning • Breathing in food or saliva into the lungs during a seizure, which can cause aspiration pneumonia • Injury from falls, bumps, self-inflicted bites, driving or operating machinery during a seizure • Permanent brain damage (stroke or other damage) • Side effects of medications

Asthma • Asthma is a disorder that causes the airways of the lungs to swell and narrow, leading to wheezing, shortness of breath, chest tightness, and coughing. • Asthma is caused by inflammation in the airways. When an asthma attack occurs, the muscles surrounding the airways become tight and the lining of the air passages swells. This reduces the amount of air that can pass by. Asthma seems to run in the family, but the exact genetics involved is unkown. • In sensitive people, asthma symptoms can be triggered by breathing in allergy-causing substances (called allergens or triggers). Many people with asthma have a personal or family history of allergies, such as hay fever (allergic rhinitis) or eczema. Others have no history of allergies.

Asthma • Complications: • Death • Decreased ability to exercise and take part in other activities • Lack of sleep due to nighttime symptoms • Permanent changes in the function of the lungs • Persistent cough • Trouble breathing that requires breathing assistance (ventilator)

Autoimmune Diseases An autoimmune disease is a disease resulting from a disordered immune reaction in which antibodies are produced against one’s own tissues. The result is an immune response that destroys normal body tissues. This response is a hypersensitivity reaction similar to the response in allergic conditions.

Type 1 Diabetes • Type 1 diabetes is usually diagnosed in children and young adults, and was previously known as juvenile diabetes. In type 1 diabetes, the body does not produce insulin. • Type 1 diabetes is a lifelong (chronic) disease in which there are high levels of sugar (glucose) in the blood. • Insulin is a hormone produced by special cells, called beta cells, in the pancreas. The pancreas is found behind your stomach. Insulin is needed to move blood sugar (glucose) into cells, where it is stored and later used for energy. In Type 1 diabetes, beta cells produce little or no insulin. • Without enough insulin, glucose builds up in the bloodstream instead of going into the cells. The body is unable to use this glucose for energy. This leads to the symptoms of Type 1 diabetes. • The exact cause of Type 1 diabetes is unknown. Most likely it is an autoimmune disorder. An infection or some other trigger causes the body to mistakenly attack the cells in the pancreas that make insulin. This kind of disorder can be passed down through families.

Rheumatoid Arthritis • The cause of RA is unknown. It is an autoimmune disease, which means the body's immune system mistakenly attacks healthy tissue. RA can occur at any age, but is more common in middle age. Women get RA more often than men. Infection, genes, and hormone changes may be linked to the disease. • RA usually affects joints on both sides of the body equally. Wrists, fingers, knees, feet, and ankles are the most commonly affected. • The disease often begins slowly, usually with only minor joint pain, stiffness, and fatigue.

Rheumatoid Arthritis • Joint symptoms may include: • Morning stiffness, which lasts more than 1 hour, is common. Joints may feel warm, tender, and stiff when not used for an hour. • Joint pain is often felt on the same joint on both sides of the body. • Over time, joints may lose their range of motion and may become deformed. • Other symptoms include: • Chest pain when taking a breath (pleurisy) • Dry eyes and mouth (Sjogren syndrome) • Eye burning, itching, and discharge • Nodules under the skin (usually a sign of more severe disease) • Numbness, tingling, or burning in the hands and feet • Sleep difficulties

Multiple Sclerosis • Multiple sclerosis (MS) is a nervous system disease that affects the brain and spinal cord. It damages the myelin sheath, the material that surrounds and protects the nerve cells. This damage slows down or blocks messages between the brain and the body, leading to the symptoms of MS. They can include: • Visual disturbances • Muscle weakness • Trouble with coordination and balance • Sensations such as numbness, prickling, or "pins and needles" • Thinking and memory problems • The cause for MS is unknown, but it is thought to be an autoimmune disease.

Lupus Erythematosus • Systemic lupus erythematosus (SLE) is a long-term autoimmune disorder that may affect the skin, joints, kidneys, brain, and other organs. The underlying cause of autoimmune diseases is not fully known. • There is no cure for SLE. The goal of treatment is to control symptoms. • Mild disease may be treated with: • Nonsteroidal anti-inflammatory medications (NSAIDs) treat arthritis and pleurisy • Corticosteroid creams to treat skin rashes • An antimalaria drug (hydroxychloroquine) and low-dose corticosteroids for skin and arthritis symptoms

Lupus Erythematosus • SLE causes damage to many different parts of the body, including: • Blood clots in the legs (deep vein thrombosis) or lungs (pulmonary embolism) • Destruction of red blood cells (hemolytic anemia) or anemia of chronic disease • Fluid around the heart (pericarditis), endocarditis, or inflammation of the heart (myocarditis) • Fluid around the lungs (pleural effusions) and damage to lung tissue • Pregnancy complications, including miscarriage • Stroke • Severely low blood platelets (thrombocytopenia) • Inflammation of the blood vessels

Scleroderma • Scleroderma is a connective tissue disease (autoimmune) that involves changes in the skin, blood vessels, muscles, and internal organs. • The cause of scleroderma is unknown. People with this condition have a buildup of a substance called collagen in the skin and other organs. This buildup leads to the symptoms of the disease. • Medicines used to treat scleroderma include: • Power anti-inflammatory medicines called corticosteroids • Immune-suppressing medications such as methotrexate and Cytoxan • Nonsteroidal anti-inflammatory drugs (NSAIDs) • Other treatments for specific symptoms may include: • Medicines for heartburn or swallowing problems • Blood pressure medications (particularly ACE inhibitors) for high blood pressure or kidney problems • Light therapy to relieve skin thickening • Medicines to improve breathing • Medications to treat Raynaud's phenomenon • Treatment usually also involves physical therapy.

Crohn's Disease • Crohn's disease is a form of inflammatory bowel disease (IBD). It usually affects the intestines, but may occur anywhere from the mouth to the end of the rectum (anus). • The exact cause of Crohn's disease is unknown, but it thought to be autoimmune. • The main symptoms of Crohn's disease are: • Crampy abdominal (belly area) pain • Fever • Fatigue • Loss of appetite • Pain with passing stool (tenesmus) • Persistent, watery diarrhea • Weight loss

Crohn's Disease • Some people with Chron's disease may need surgery to remove a damaged or diseased part of the intestine (bowel resection). In some cases the entire large intestine (colon) is removed, with or without the rectum. • Patients who have Crohn's disease that does not respond to medications may need surgery to treat problems such as: • Bleeding (hemorrhage) • Failure to grow (in children) • Fistulas (abnormal connections between the intestines and another area of the body) • Infections (abscesses) • Narrowing (strictures) of the intestine

Grave's Disease • Graves disease is an autoimmune disorder that leads to over activity of the thyroid gland, which is an organ that controls the body’s metabolism (hyperthyroidism). • It is most common in women over 20. • Some affects of Grave’s disease include Anxiety • Irritability • Difficulty sleeping • Fatigue • A rapid or irregular heartbeat • A fine tremor of your hands or fingers • An increase in perspiration or warm, moist skin • Sensitivity to heat • Weight loss, despite normal eating habits • Enlargement of your thyroid gland (goiter) • Change in menstrual cycles • Erectile dysfunction or reduced libido • Frequent bowel movements or diarrhea • Bulging eyes (Graves' ophthalmopathy) • Thick, red skin usually on the shins or tops of the feet

Psoriasis • Psoriasis is a common skin condition that causes skin redness and irritation. Most people with psoriasis have thick, red skin with flaky, silver-white patches called scales. • Psoriasis seems to be passed down through families. Doctors think it may be an autoimmune condition. • Usually, skin cells grow deep in the skin and rise to the surface about once a month.

Psoriasis • There are five main types of psoriasis: • Erythrodermic -- The skin redness is very intense and covers a large area. • Guttate -- Small, pink-red spots appear on the skin. • Inverse -- Skin redness and irritation occurs in the armpits, groin, and in between overlapping skin. • Plaque -- Thick, red patches of skin are covered by flaky, silver-white scales. This is the most common type of psoriasis. • Pustular -- White blisters are surrounded by red, irritated skin.

Psoriasis • There is no known way to prevent psoriasis. Keeping the skin clean and moist and avoiding the specific psoriasis triggers may help reduce the number of flare-ups. • Doctors recommend daily baths or showers for persons with psoriasis. Avoid scrubbing too hard, because this can irritate the skin and trigger an attack.

Why don’t we study the genetics of…