Medicine is transforming rapidly. During this era of human history, scientists are forever changing lives, because for the first time humans are not powerless against their genes! We now have the power to not only predict, but also alter our very future. The Genetic Revolution is here!
With the power of gene therapy, scientists now have a new tool that enables them to change a patient's DNA. Medical treatments usually counteract the symptoms of a disease. But with gene therapy, doctors can cure diseases. Click to learn more
The concepts described in this website might be a review for some people, or it might be a new learning experience. Click in order to learn or review the basics of biology and genetics.
Medicine is transforming rapidly. During this era of human history, scientists are forever changing lives, because for the first time humans are not powerless against their genes! We now have the power to not only predict, but also alter our very future. The Genetic Revolution is here!
List of Genetic Diseases
The following is a list of some of the most common genetic diseases, their symptoms, characteristics, and other important information.
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What Is It: Cystic fibrosis is a dangerous disorder which causes severe damage to the lungs and digestive system. It alters the mucus, sweat, and digestive juice secreted by cells. The normally slippery and thin fluids becomes thick and sticky. This plugs up tubes, ducts, and passageways. This is very dangerous in the lungs and pancreas.
Causes: Cystic fibrosis is caused by a recessive and mutated gene. This gene changes a protein that regulates the moments of salt in and out of cells. Because the gene is recessive, a child needs to have two copies of the gene (one from each parent) to develop the disease. This disease can be carried and passed down, even if the carrier does not have the disorder.
Symptoms: Because screening of newborns for cystic fibrosis is now performed in every state, the condition can be diagnosed quickly before many of the symptoms develop. The symptoms and signs vary for each person, depending on the severity of the disease:
High level of salt in sweat (sometimes parents can taste the salt while kissing their children); a persistent cough with thick spit and mucus; wheezing; breathlessness; repeated lung infections; inflamed nasal passages; greasy and foul-smelling stools; poor body growth and weight gain; severe constipation; protrusion of the rectum caused by frequent straining while passing stool
Treatments: Cystic fibrosis is not a curable disease, but treatment can ease some of the symptoms and complications. Medications are used to prevent and control lung infections, reduce thickness of mucus, help digestive tract absorb nutrients, keep airways open, prevent and treat intestinal blockage. There are also long-term programs to improve the lung function, breathing strategies, nutritional counseling, physical therapy to loosen mucus, and mechanical devices to help loosen lung mucus.
What Is It: Angleman Syndrome causes development disabilities and neurological problems (difficulty speaking, balancing and walking problems, sometimes seizures).
Causes: This disorder is caused by problems with the ubiquitin-protein ligase E3A (UBE3A) gene on chromosome 15. Most cases of this disorders are caused by part of maternal (inherited from the mother) chromosome 15 being damaged or missing. Sometimes it is caused by the inheritance of two paternal copies of the genes, instead of one paternal and one maternal copy.
Symptoms: Developmental delays (not crawling or babbling at 6-12 month); intellectual disability; lack/minimal speech; inability to walk; balancing problems; trembling arms and legs; frequent smiling and laughter; happy/excited personality; seizures; stiff/jerky moments; small head size; flatness in back of head; crossing of eyes; tongue thrusting; walking with arms up in the air; light pigmentation.
Treatments: This disorder is not curable, but treatment is focused on managing the problems. Treatment includes anti-seizure medications; physical therapy (to overcome movement problems); communication therapy (nonverbal language skills may be developed); behavior therapy to overcome hyperactivity and short attention span.
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(223) Baby with Angelman Syndrome
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What Is It: Huntington's Disease causes the progressive degeneration of nerve cells in the brain, resulting in movement, thinking, and psychiatric disorders. People with this disease usually develop signs and symptoms in their 40's or 50's, but there had been cases of people developing the disease before age 20.
Causes: It is caused by the inheritance of an autosomal dominant and mutated gene. A person only needs one copy of the gene from one of their parents.
Symptoms: movement disorders like involuntary jerking/writhing movements contraction of muscles; muscle rigidity; uncoordinated and/or slow movements; abnormal and/or slow eye movements; difficulty with swallowing or speech; impaired posture and balance; cognitive disorders like inability to start a task/conversation; difficulty planning and organizing; lack of mental flexibility, outburst; sexual promiscuity; problems with spatial perception; unawareness of one's behaviors; difficulty focusing; inability to "find" words; difficulty in learning new information; psychiatric disorders like depression; loss of interest; social withdrawal; fatigue; insomnia, thinking of death, dying or suicide; appetite changes.
Treatments: Medication and therapy can lessen some of the symptoms and psychiatric disorders.
Medications for suppressing chorea (jerking and writhing movements), medications like antidepressants, antipsychotic, and mood stabilizing drugs are offered. Therapy for speech and physical problems are also available.
What Is It: Down's Syndrome is a disorder that causes mental retardation, developmental delays, and other problems that can be moderate or severe.
Causes: There are three types of Down syndrome all involving chromosome 21:
Trisomy 21 is the most common cause, and occurs in a child with an extra copy of chromosome 21. Mosaic Down's Syndrome is a rare form of the disorder, and is caused by children with some of their cells, not all of them, having an extra copy of chromosome 21. Translocation Down's Syndrome is an uncommon form of this disorder caused by parts of chromosome 21 being attach into another chromosome.
Symptoms: flattened facial features; small heads; short neck; unusually shaped ears; upward slanting eyes; protruding tongue; poor muscle tone; broad; short hands; relatively short fingers; and excessive flexibility. A typical child with Down's Syndrome is shorter than other children of similar age, and grow at a slower pace than others.
Treatments: Programs can help improve the quality of life for a person with this disease. Therapists and special educators will help develop motor skills, social skills, language, and self-help skills for the person with the disease.
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What Is It: Noonan Syndrome is a disorder that prevents the normal development of various parts of the body. A person can be affected in various and different ways.
Causes: There are currently seven known genes that can cause this disorder. This mutation is autosomal dominant, and is inherited from a parent with the defective gene. The altered genes produce continually active proteins, which disrupts the normal process of cell growth and division.
Symptoms: The easiest way to diagnose this disease is by looking at a person's face (there are numerous and extremely specific characteristics that doctors use). Heart diseases are also common in people with this disorder, such as valve disorders, thickening of the heart muscle, and structural problems of the heart. Other symptoms include poor weight gain, musculoskeletal issues, learning disabilities (not very debilitating) , eye problems (refractive problems, nearsightedness, farsightedness, rapid movements of the eyeballs), abnormal bruising and bleeding, excess fluid on the back of the hands or top of the feet, problems with the genitals and kidneys (delayed puberty undescended testicles, fertility problems), and skin problems.
Treatments: Medications prescribed to treat specific problems are the same as medication prescribed for the general public with these problems. Treatment for vision, bleeding, low growth rate, heart problems, and sometimes surgery for genital and urinary tract problems are common. Learning programs and special education are also provided.
What Is It: Triple X Syndrome is a disorder that affects only females. The disorder can produce severe or subtle problems. Some people have a mosaic form of triple X syndrome, which is less severe because it only affects some, not all, of a female's cells.
Causes: Triple X syndrome is caused by a female inheriting not two, but three X chromosome. This usually happens when the mother's egg or father's sperm cell does not form correctly.
Symptoms: Triple X syndrome does not always cause any problematic symptoms, but can slow down a female's developmental progress.
Some symptoms are tall stature, vertical skinfolds in inner corners of the eyes, delayed speech and language development, curved pinky fingers, behavior and mental problems, weak muscle tone, abdominal pains.
Treatments: Triple X syndrome is not curable, thus treatment is based on symptoms (if there are any). Some treatments include special education for learning disability; counseling and strategies for beneficial health; a support team to decrease stress (females with this disease are more likely to be stress).
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(231) Child with Fragile X Syndrome
What Is It: Fragile X syndrome is a disorder that can cause a series of diverse physical traits. It is the most common inherited form of intellectual disability
Causes: Fragile X Syndrome is caused by a genetic "stutter" in the X chromosome. People with fragile X syndrome have more repeated genes, then unaffected people. The large number of extra repeated gene interferes with regulations, turning off the gene, and stopping the necessary proteins from being synthesized. These proteins are usually found in nerve cells, and help in brain development and brain communication.
Symptoms: intellectual disability/learning problems; behavioral problems; trouble paying attention; delays in developmental milestones (crawling, sitting); speech problems; sensitivity to light, sounds, touch; large head; large ears; long, narrow face; overly flexible joint (especially in the fingers); enlarged testicles that develop after puberty.
Girls with this disorder have fewer and less severe symptoms: speech delays; attention difficulties; emotional problems; poor social skills; learning disabilities (usually with math)
Treatments: Treatment usually includes medicine like antidepressants, antiseizure drugs, antipsychotics, and stimulants (for hyperactivity and attention problems). A team of speech, language, and physical therapist alongside psychologists, special educators, and pediatricians are often provided for people with this disorder.
What Is It: This disorder affects only girls and women, and may be diagnosed during infancy or early childhood. This disorder is related to the sex chromosome, and can cause a variety of medical problems
Causes: There are three form of Turner syndrome:
Monosomy: complete absence of an X chromosome, so girls only have one sex chromosome: X.
Mosaicism: some of a female's cells have two X chromosome, while other cells have only one X chromosome.
Y chromosome material: some of the cells have only one copy of the chromosome, while other cells have one copy of the X chromosome, and a small amount of Y chromosome material. Although people with this disease develops into girls biologically, they have an increased chance of gonadoblastoma cancer.
Symptoms: There are no specific signs and symptoms for this disorder, and they generally change as the person develops. Here are some features that appear generally at birth: receding or small lower jaw, fingernails turned upward, swelling of hands/feet, delayed growth, sensitivity to noise, short fingers and toes, broad chest with widely spaced nipples, low-set ears, drooping eyelids. As the female develops, other symptoms include: social problems, learning disabilities, short stature, no growth spurts, infertility, delayed sexual development, early end to menstrual cycles.
Treatments: Growth hormone, estrogen therapy for sexual development, periodic checkup with a heart specialist, fertility treatment, assign specialist for preventing high-risk pregnancies, and other treatment are provided to increase comfort. Medicine for high blood pressure, diabetes, osteoporosis, and nutritional supplements are also provided.
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What Is It: Prader-Willi Syndrome is a very rare disorder that results in a number of physical and mental problems. It causes a constant sense of hunger beginning after the first year of life.
Causes: Prader-Willi syndrome is caused by an unknown gene on chromosome 15. It occurs when certain paternal (inherited from the father) gene are not expressing themselves. The reasons are because (1) certain genes on chromosome 15 are missing (2) two copies of chromosome 15 are inherited from the mother, and none from the dad, and (3) mutations in paternal genes on chromosome 15.
The defect disrupts the function of the hypothalamus which controls hunger, thirst, and other processes.
Symptoms: Food craving/weight gain; underdeveloped sex organs; poor physical development; learning disabilities; slow motor development; speech, behavioral, and sleeping problems; scoliosis.
Treatments: Specialists will provide good infant nutrition; growth hormone; sex hormone treatment; help for developing a healthy diet; physical, speech, and developmental therapy; and mental health care.
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What Is It: Sickle cell anemia causes red blood cells to be irregularly shape, slowing/blocking the flow of oxygen. It is a form of inherited anemia.
Causes: Sickle cell anemia is an autosomal recessive trait, so only a person with both parents passing down the trait can have the disease. The mutated gene causes hemoglobins to be abnormal, causing red blood cells to be sticky and misshapen.
Symptoms: Signs of this disease usually show up after an infant is 4 months old. These includes: anemia (chronic shortage of red blood cells); episodes of pain (called crices) that can occur in bones; swollen hands/feet; frequent infection (sickle cells damage the spleen, which fights infections); delayed growth; vision problems
Treatments: The most potential (yet risky) cure for sickle cell anemia is a bone marrow transplant. This treatment however, is extremely risky and it is very hard to find a donor. Regular visits to the doctor can help in the monitoring of blood cells, and relieve symptoms. Treatments include: pain medication, blood transfusions, supplemental oxygen, and antibiotics.
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What Is It: Parkinson's disease is a disorder of the nervous system that progressively gets worse. It usually starts with a subtle yet noticeable tremor, and can cause stiff/slow movements.
Causes: It is unknown what causes Parkinson's disease, but many blame genetic factors (mutations) and environmental triggers (toxins). Researchers have found that people with this disease have Lewy bodies (clumps of substances within brain cells) with A-synuclein substances that can't be broken down by the cells. Scientists believe that these substances are related to this disease.
Symptoms: Signs usually occur on one side of the body before spreading to the other side. These include: tremors; shaking/slowed movements; rigid/stiff muscles; stooped posture; balancing problems; decreased ability for unconscious movements (blinking, smiling); speech changes (slur words, speaking in a soft, quick, or hesitate tone); and writing changes (difficult to read, or small handwriting)
Treatments: Lifestyle changes like ongoing aerobic exercises are usually recommended. In addition specific medicine can DRAMATICALLY reduce symptoms and increase health. Deep brain stimulation using electrodes may also be recommended for advance development of this disorder.
What Is It: Klinefelter's Syndrome, also called XXY male, occurs in men with an extra X chromosome in most of their cells. Like other chromosomal disorders, symptoms can varied dramatically from men to men.
Causes: This disorder is caused by the inheritance of an extra X chromosome in men. The problem probably resulted during an error in the formation of an egg or a sperm.
Symptoms: sparse body hair, enlarged breast, small testicals, voices that may not be as deep, infertility, language and learning problems.
Treatments: Usual medication includes hormone treatment using testosterone given through an injection or a skin patch. This does not help with infertility however. Speech therapy and special educators can be provided, in addition to psychological therapy for emotional supports.
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What Is It: This disease is triggered by consumption of gluten, a protein. Gluten is primarily found in bread, cookies, pasta, wheat, barley, rye, and pizza crust. The immune reaction caused by gluten can damage the inner surface of the intestine, resulting in pain and diarrhea. The body is also not able to absorb these nutrients.
Causes: The exact cause of this disease is not known, but it might have a genetic factor because most cases runs in families People with Celiac have villi in the small intestine which are damaged. This prevents adequate absorption of nutrients.
Symptoms: There is no distinct physical trait associated with this disease, but most people complain about bloating, abdominal pain, and intermittent diarrhea. The general problems with this disorder may be confused with other abnormal conditions like Crohn's disease, anemia, gastric ulcers, and irritable bowel syndrome.
Treatments: This disease can be easily managed by effectively changing diet to avoid gluten. Vitamin supplements may also be required to combat malnutrition. Steroids to control inflammation in the intestine may sometimes be recommended for severe cases.
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What Is It: This disease is genetic in nature, and results in unusually weak muscle fibers that are susceptible to damage. The fiber chronically becomes weaker with time, and most people with this disease requires the use of a wheelchair
Causes: This disease can be caused by mutations to hundreds of genes involved in making proteins for protecting muscle fibers. There are specifically different form of this disease.
Symptoms: People with Duchenne muscular dystrophy experience frequent falls; large calf muscles, trouble running/jumping; and learning disabilities. People with Becker muscular dystrophy have very similar symptoms to that of Duchenne muscular dystrophy, but they develop slower and are more mild. Other less common form of this disease do exist.
Treatments: Corticosteroids are sometimes provided to help with muscle strength and delay the progression of symptoms. Physical therapy are also recommended to help with exercising, flexibility, and posture. Aids for mobility (canes, walkers wheelchairs) and breathing may also be needed.
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What Is It: Edward's Syndrome is a rare genetic disorder resulting from partial duplication of chromosome 18. Most people with this disorder die during the fetal stage, and those who survive generally have a wide range of problems which severely shorten their life span.
Causes: Edward's syndrome is caused by extra materials from chromosome 18. Most have a third chromosome 18, instead of the usual two. Others have a third chromosome 18 that is very small with little genetic materials (this can still be as harmful).
Symptoms: Fragility; weakness; underweight; unusually small head; malformed ears; small mouths and jaws; cleft palate; fused or webbed toes; malformed lungs and blood vessels; congenital heart diseases; malformed kidneys, undescended testicles (if male); abnormalities of the urogenital system, and other problems.
Treatments: It is rather hard for doctor to provide care for children with this disease because most have early death. Children that do live beyond their first year of life may have medical and surgical aids to reduce discomfort and long term chronic condition.
What Is It: Cri Du Chat, French for "cry of the cat", is a disorder that is usually not inherited.
Causes: Cri Du Chat occurs because of a genetic condition which causes the deletion of genes on chromosome 5's "p arm". The cause of this deletion is unknown.
Symptoms: The severity of this symptom might be related to the amount of genetic materials deleted on chromosome 5's "p arm". Symptoms includes developmental delays; a high-pitched cat-like cry; distinctive facial features, small head size, widely spaced eyes, underweight during birth, weak muscle tone, difficulty with language, hyperactivity, scoliosis, and slow development in walking.
Treatments: Although there is no cure, children with this disorder can have full and happy lives. Therapy is often provided for physical and language problems. Medical professionals may provide different medications depending on other risks or problems. Special Education can also help children with learning disabilities.
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(247) Child with Cri Du Chat
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What Is It: Autism is a disorder that can cause serious developmental problems in communication and interaction. The number of autism case is growing each year, for unknown reasons.
Causes: Because of the complex nature of this disorder, it is unknown what causes autism. Genetic and environmental factors have been taken into consideration.
Symptoms: Children with this disease have problems in social skills, language, and behavior. They includes: not responding to name, poor eye contact, appearing to not hear you at times, resist holding and cuddling, not empathetic, prefering to be alone, delayed or no speech, speaking in an abnormal tone or rhythm, can't start or keep conversations, doesn't understand how to use words or phrases (despite repeating them), not understanding simple questions or directions, repetitive movements, inflexible routines (easily disturbed if disrupted), constant movement, fascinated with small details of an object, but not the "big picture" (fascinated with spinning wheels of a car, but not the whole car), odd preferences (eating only some food, or craving nonfood), performing self-harming activities.
Treatments: There is no cure for this disorder, but early intervention and aids can dramatically help a child with autism. These includes behavior and communication therapies for teaching social and interaction skills, educational therapies, and antidepressant or antipsychotic medications.