Genetic Disease Comprendium Biology Period 3B-4 2011

Progeria. By: Claudia Brodeur and Brandon Wilson. Also known as Hutchinson–Gilford Progeria Syndrome. Causes children to age very rapidly within the first two years of their lives. Generally normal at birth but by 12 months start to have symptoms. Symptoms growth failure, loss of body fat, hair loss, hip displacement and strokes. Progeria disease is inherited by mutations in the LMNA gene in the DNA. Almost always occurs in people with no family history of the condition. There is no treatment or cure for progeria but some therapies such as Aspirin may help ease the symptoms. People born with progeria live typically in to their mid teens or early twenties. Scientists are very curious about progeria because it may revel clues about normal aging. Extremely rare. Heart problems or strokes are usually the cause of death in these children.

Phenylketonuria (PKU) By: Ashley and Amanda. PKU can cause delayed mental and social skills, seizures, tremors, and skin rashes. Most people with PKU have significantly small heads. There are no certain people prone to inheriting this disease. People with PKU need to have a special diet, that is very low in phenylalanine. Phenylalanine is found in most common foods, including milk, and eggs. And taking fish oil can help with neurologic development. The boy shown on the right has Phenylketonuria.

Harlequin ichthyosis causes to much skin on the body Harlequin ichthyosis causes to much skin on the body. It is inherited by autosomal recessive patterns. Infants are more prone to this disease. This disease is cured by creams and ointments. Chris Hull Andy Trumble

Progeria C R A I G J A C K L Y N Progeria causes rapid aging in children. The disease is inherited by lamin A (LMNA). Lamin A makes a protein that holds the nucleus in place around the cell. It affects children starting at 12 months and the children affected only live an average of 13 years. There is no cure but research may permit a treatment. J A C K L Y N C R A I G

HEMOPHILIA Randy Novak Cassie Delgado Sammie Jones What is it: Hemophilia is a rare bleeding disorder in which the blood doesn’t clot normally. How is it inherited: It is an X linked disorder. It is caused when a defective X chromosome gene is inherited. Who it effects: It is more common in males because it is sex-linked. It is very rare for women to have it, although they can still be carriers. How is it treated: It is treated by replacement therapy. The missing concentrates are slowly dripped or injected into a vein to help replace the clotting factor that is missing or low.  With no clotting factor, the cut continuously bleeds.  Even after a simple hit the bruise just keeps building up and blood keeps bleeding into the cavity, not clotting, and there is swelling.

Tree Mans disease is Hpv Hpv causes warts to grow all over the body. Tree Man`s arms look like bark and his feet stared growing gnarly warts that looked like roots. The chances of getting this if one parent has this then there will be fifty percent chance you will have it. Jeremy, Max, Zotta Another name for this disease is Neurofibromotosis

Cystic fibrosis Cystic fibrosis clogs the lungs and leads to life threatening lung infections. This disease is inherited by the presence of two mutant genes which is needed for cystic fibrosis to appear. Each parent carries one defective gene and one normal one. Children have a 25% risk of inheriting two defective genes and getting cystic fibrosis and a 50% chance of being an unaffected carrier like the parent. This disease is treated by exercising and antibiotics for infections of the airways and chest physical therapy By: Aleah Laflamme and Cory Johnston

By: Keyera McGrew & Brandi Roberts Down Syndrome Its caused by an extra 21st chromosome, and as far as I know is a genetic mutation and not inherited. Women over about 35 who have children run a much greater risk of having a child with downs. By: Keyera McGrew & Brandi Roberts

Albinism Genetic disease that causes white or pink hair, pale skin, red eyes, and vision problems. Occurs when a genetic defect makes the body unable to produce melanin. Occurs in about one in 17,000 babies born. Treatment- Protect eyes and skin from the sun. By: Matt McNitt And Nick Allen

Huntington disease Huntington’s disease is a rare fatal brain disorder caused by inherited changes in a single gene. These changes lead to destruction of nerve cells in certain brain regions. Symptoms of Huntington’s Involuntary movements such as twitches and muscle spasms. Problems with balance and coordination. Personality changes such as irritability, depression and mood swings. Trouble with memory, concentration or making decisions. Treatment of Huntington’s There is currently no cure for Huntington’s, Treatment focuses on reducing symptoms, preventing complications, and providing support and assistance to the patient and those close to him or her. By: Mackenzie

Proteus Syndrome Megan and Courtney Proteus Syndrome is excessive growth of cells and causes skin overgrowth and a typical bone development often with tumors covering half of the body. You are born into this disease, however when your born there are not any obvious deformities until later development. No racial or ethnic differences, it effects both men and women equally. There is no treatment for this disease. Proteus Syndrome Megan and Courtney

Tessa wood and Jade Armstrong Cri du chat Cri du chat causes babies to sound like kittens, it can also cause abnormal facial features. This disease is not inherited but it is instead caused by a missing piece in chromosome 5. It is more commonly found in women. It has no specific treatment, there are just ways to treat or manage the symptoms.