Von Hippel-Lindau disease VHL-Ryan Goodridge

Von Hippel-Lindau disease VHL is a rare and genetic disease. VHL is characterized by the abnormal growth of tumors in certain areas of the body. Some tumors of VHL develop in the central nervous system and become benign and are made of nest blood vessels called hemangioblastomas. These hemangioblastomas can develop in the brain, the retina of the eyes and also in other areas of the central nervous system. Other tumors form in the adrenal glands, the kidneys and the pancreas. Some of the symptoms that show up are headaches, trouble with balance and walking, dizziness, weakness of the limbs, vision, and high blood pressure. Treatments depend on the size of the tumor. Most cases are treated by having surgery and removing the tumors before then can become harmful. However in some cases VHL can be treated with high focused doses of irradiation. Patients who have VHL need to have close monitoring from a doctor and a physician. Untreated tumors of VHL can result in blindness, and permanent brain damage. However death can occur from complications of the brain tumors or kidney cancer. Right now the search is on to find a way from preventing VHL.

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Turner syndrome John Aminti

Turner syndrome only affects girls, by messing up their X chromosome. This disease affect about on in every 2500 girl, so only a few kids get it. Scientist does not know what causes the disease yet but they are still working on it. Turner syndrome affects the X chromosomes of a girl; turner syndrome causes the girl to be missing an X chromosome or part of an X chromosome when they are born. The effects of turner syndrome could be anything it depends on how the body’s cells are affected by the change of the X chromosome. People who have Turner syndrome usually are very short and will only grow to be about four feet and seven inches. If this disease is diagnosed at an early stage when the person who has the disease is still growing they will be able to treat and make the kid larger. One of the worst conditions turner syndrome can give you is that the girl’s ovaries will not develop properly. This will also mess up the girl sexual development. Girls will not go through puberty with this disease unless they are treated for it. Since Turner syndrome is a caused by messed up chromosomes there is no specific cure there are only treatments. For example, if someone has growth problems the doctor will give them growth hormones to treat their abnormality. You can not catch turner syndrome like a cold you just develop it or you are born with it. picture http://medgen.genetics.utah.edu/photographs/diseases/high/peri086.jpg

Megan Sajovic- Cystic Fibrosis

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Cystic Fibrosis is a hereditary disease that affects the entire body and can cause serious physical damages and early death. First recognized in the 1930's, the name "Cystic Fibrosis" refers to the characteristic of fibrosis, tissue scarring being present" and a cyst forming on the pancreas. It is known as the most life-shortening inherited diseases which affects children at an early age. Cystic Fibrosis is caused by a mutated gene called the Cystic Fibrosis Trans membrane Conductance Regulator or CFTR and assists in creating sweat and mucus. Though most people without Cystic Fibrosis have two working copies of the CFTR gene, only one is needed to prevent being diagnosed with CF. It develops when either gene is working properly, so the disease is considered an autonomic recessive disease. Common symptoms of Cystic Fibrosis are difficulty breathing and an inefficient enzyme production in the pancreas. Other symptoms are a thick mucous production, low immune system results in frequent lung infections, sinus infections, poor growth, diarrhea, and potential infertility which is mostly affected toward males with CF by 97%. Often, symptoms of Cystic Fibrosis are shown in infancy and childhood and include failure to thrive, and recurrent lung infections. The most efficient aspect of the CF therapy is limiting and treating the lung damage caused by thick mucus and infection with the goal of the patient having a normal quality of life. The antibiotics are used to treat the chronic and acute infections and the mechanical devices and medications meant to be inhaled are used to clear up thickened mucus within the body. Cystic Fibrosis therapy also involves the treatments for diabetes, pancreatic disease which uses an enzyme replacement, and new reproductive techniques for those who are infertile. Also to aim for a cure in Cystic Fibrosis, therapies include transplants and gene therapies.

Tucker Grose- Waardenburg Syndrome

Waardenburg syndrome is an inherited disorder usually characterized by varying degrees of hearing loss and changes in skin and hair coloring. The syndrome got its name from a Dutch eye doctor named Petrus Johannes Waardenburg who noticed in 1947 that people with differently colored eyes often had a hearing problem. He went on to study over a thousand individuals who had hearing problems and discovered that some of them had certain physical characteristics in common.
One common characteristic of Waardenburg syndrome is two differently colored eyes. One eye is usually brown and the other is blue. Sometimes, one eye has two different colors. Other individuals with Waardenburg syndrome may have unusually bright blue eyes.
People with Waardenburg Syndrome may also have distinctly different hair coloring, such as a patch of white hair or premature gray hair as early as age 12. Other possible physical features include a wide space between the eyes called a broad nasal root. In addition persons with Waardenburg Syndrome may have low hairline in the front and their eyebrows may connect. The levels of hearing loss connected with the syndrome can vary from moderate to profound.
People with Waardenburg syndrome may have some or all of the traits of the syndrome. For example, a person with Waardenburg Syndrome may have a white forelock, a patch of white hair on the forehead, and no hearing impairment. Others may have white patches of skin and bad hearing problems. The severity of the hearing impairment changes among the cases of Waardenburg Syndrome as do the changes in the skin and hair.
On rare occasions, Waardenburg Syndrome has been associated with other conditions that are found at birth, like intestinal disorders, lifted shoulder blade, and problems in the spine. The cleft lip is another disorder that has been seen as one of the traits connected with Warrensburg Syndrome.
Scientists have found four different genes for Waardenburg syndrome they are, PAX3, MITF, EDNRB, and EDN3. Waardenburg Syndrome type 1 and 3 has a mutation in the PAX3 gene; While Waardenburg type 2 is connected with the MITF gene, and type 4 with the EDNRB and EDN3 genes. Types 1 and 2 are autosomal dominant conditions, while type 4 can be autosomal recessive or autosomal dominant inheritance.
Waardenburg Syndrome symptoms are hearing loss and partial albinism. It affects both males and females, and people of all ethnic backgrounds. It is estimated to occur in 1 of 42,000 individuals. There are no treatments or cures, only hearing aides, which can help the deafness or loss of hearing. Waardenburg is a genetic disorder so there is no prevention.

Trisomy-Nora Lynn Shimko

Trisomy is the presence of an extra chromosome in the cells of a human. Usually people have 46 chromosomes in each cell of their body. Trisomy is when there are 47 chromosomes present. The extra chromosome usually leads to retardation, abnormalities, and heart defects. There are lots of different types of Trisomy but the most common types are Trisomy 21, 18 and 13. The difference between these types of Trisomy is that they all have an extra chromosome, but in different number chromosomes. This syndrome is not found more frequently among particular ethnic groups but Trisomy 18 affects 3x as many girls as it does boys. Trisomy 13 affects about 1 in 5000 babies while Trisomy 18 occurs in 1 in every 3000 babies. Trisomy 21 is more common, it occurs in 1 in every 660 babies. These 3 types of Trisomy are severe and cause death within the majority of infants. Some symptoms that occur when you have Trisomy 13 are mental retardation, seizures, small head, hernias and abnormalities. Seeing as this is disorder is very severe, they don’t attempt to do life-sustaining procedures. It depends on what type of symptoms the patient has in order to attempt to treat them. Surgery is sometimes necessary in order to repair heart defects. Some ways to prevent this disorder are for the parents to have genetic testing and counseling in order to try to prevent them from passing this genetic disorder down to their kids. Most cases of Trisomy 13 cannot be inherited and is more so occurs as random events during the formation of reproductive cells that produce an extra chromosome in error. But translocation Trisomy 13 can be inherited. If a parent has an extra chromosome they can pass it on to their child, which can obtain that extra chromosome. Any type of Trisomy can be severe and can result in death, especially to babies that are born with this disorder.

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Porphyria - Nicole Bounty

Porphyria is a disease that occurs when the enzymes of the porphyrin’s (molecules in the macrocycle) in a person’s body become infected. Basically what happens is the infected enzymes in the porphyrin pathway start to decrease in production of heme. The main problem is that porphyrin is being over produced, while the production of heme is decreasing. People can also get Porphyria from a previous liver disease, which could lead into other diseases such as jaundice (discoloration of the skin).

There are two different types of the disease; one is Acute Porphyria and the other Cutaneous Porphyria. Acute Porphyria mostly affects the nervous system, creating problems such as seizures, abdominal pain, mental disturbances, vomiting, hallucinations, depression, fast heart rate and anxiety. The disease can sometimes be caused by genetics but not always. The attacks from the disease can be caused by drugs, alcohol, some antibiotics, certain foods and also fasting. These attacks can only be triggered once the person actually has the disease.

Cutaneous Porphyria mainly affects the skin of the person causing blisters, swelling, and necrosis of the skin (death of skin cells). Also, the accumulated porphyrin changes the color of the body’s fluids to a purple color, including fingernails and teeth.

The most popular treatment for the disease is to take a certain drug, for example Hematin to try and reduce the attacks. The drug is only affective if it is given to the patient early in on in the attack of porphyria, otherwise it will not help. Also, the drug will not cure the disease, but will only decrease the painful attacks as much as possible.

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Retinoblastoma- Mat Siebert

Retinoblastoma is basically a cancer of the eye. The tumor is cause by a mutation of the RB1-gene. While mostly occurring in children under the age of 5, adult cases have been recorded. Patients with retinoblastoma nearly always go blind due to the fact that the retina is the part of the eye that is necessary for vision. The only real effective treatment for retinoblastoma is removal of the eye before the cancer spreads to the brain through the optic nerve.
75% of cases of retinoblastoma effect only one of the person’s eyes. When left untreated, retinoblastoma is nearly always fatal. But with modern treatment there is a 90% survival rate. Treatments for retinoblastoma include everything from Enucleation, removal of the eye, to laser treatment. In laser treatment, a laser is used to kill all of the blood vessels around the tumor.