Blooms Syndrome

Blooms syndrome is an inherited birth disorder. People diagnosed with Blooms syndrome are very short and weigh very little when they are born. On average, they only reach about 5 ft at the tallest when they are adults. Blooms syndrome causes the affected to have a very different and uncommon face. They typically have a long narrow face, a larger nose, and a high pitched voice. Men that have Blooms syndrome are unable to produce sperm. The disorder is most common in central and eastern Europe. One third of the affected are Ashkenazi Jews.

The condition is inherited by the auotosomal recessive pattern. The parents that produce a baby with this disorder are typically both carriers of the recessive/mutated gene. But, this does not mean that the parents have the disorder, they are carriers, not the affected.

Many with this syndrome are more prone to being diagnosed with cancer and diabetes. Many have severe troubles with learning. They also have many infections to the ears, respiratory tract, and lungs during their infancy.

Sister chromatid exchange: left is normal and right is Blooms syndrome.

Canavan Disorder

Canavan disorder is inherited if both parents are carriers of the defective gene. Both of the parents need to be carriers in order to have an affected child. If both parents carry the gene mutation, there is a 25% chance for the pregnancy to have a child that will be affected with the disease. Canavan disorder is a degenerative disease in the brain. It is also located on chromosome 17.

Symptoms of Canavan disorder usually appear in the first 3 to 6 months of childhood and increase rapidly. Symptoms include lack of motor development, trouble with feeding, abnormal muscle tone (stiffness or weakness), and an abnormally large, poorly controlled head. Blindness, hearing loss, and paralysis may also occur.

Canavan disease can be identified with a blood test before the birth of the baby. The blood test can screen for missing enzymes or mutations in the gene. Canavan disorder causes progressive brain atrophy. There is no cure for this disease or a standard course of treatment.

Although this disorder can occur in any ethnic group, it is mostly common throughout Ashkenazi Jews. Studies show that this disorder affects 1 in 6,4oo to 13,500 people in the Ashkenazi Jewish population.

The life expectancy with Canavan disorder varies. Many affected individuals only survive through childhood. Only some may survive into their teen years or beyond.

This is a picture of a boy who has been affected with Canavan disorder.

Muddiest Point- PatrykS

My muddiest point is the autosomal recessive and autosomal dominant, how does that all work?

Muddiest Point 11/5

One of my muddiest points is the difference haploid and diploid. I am confused with the 2N and N stuff. Another muddiest point are the pedigrees. I don't really know how to read them or decide the genotypes, or whatever you have to do them. Is there an easier way to understand them?

Wilson Disease-Patryk Swietek

Wilson Disease

Wilson disease is a genetic disorder that doesn't let your body get rid of extra copper. Copper is required for your body but having too much of it is poisonous. To get Wilson disease, you need to inherit two not normal copies of ATP7B gene from each parent. To carry the disease, you only need one. The symptoms of this disease are attacks at the liver, the nervous system or both. This results in swelling of the liver, fluid buildup and being bruised more easily. Good news is that Wilson disease can be diagnosed with physical examination and laboratory tests. It can also be treated although it requires lifelong treatment to control copper amount in body. People who get the disorder detected early get good treatment, can have good health.

ATP7B GENE

The ATP7B gene is pointed out in the image above. This gene is located on the long arm of chromosome 13.

Cystic Fibrosis- Sammy Kim

Cystic Fibrosis

Cystic Fibrosis is inherited when chromosome 7 (called CFTR) contains a defective gene. If both parents which contain Cystic Fibrosis or are carriers of the disease pass the flawed gene onto their child, then the child will be affected with Cystic Fibrosis. If the child only inherited one of the flawed gene, then the child will be called a carrier which is not affected with the disease, but it can possibly be passed down and affected on their children. When people is affected with this disease, they have symptoms such as: coughing, a salty-tasting skin, weight loss, and a lot more. They also have thick mucous clogs in the airways for the lungs which rises the chance of having an infection. This happens because the protein produced by this gene helps salt move in and out of the cells, but without it the lungs will be clogged up with thick and sticky mucous. People with Cystic Fibrosis can be detected by the excessive amount of salt in their sweat and also by taking a sample of their blood. There is no cure for this genetic disorder, but there are a few treatments which makes the people with the disease live longer. The treatments for it are repeatedly hitting the back to free up the mucous in the chest, inhaled antibiotics which keep the airways open and resist the infection in the lungs, and gene therapy (When a healthy chromosome 7 is placed into the lung cells of the person with the disease to fix the defective gene). Cystic Fibrosis is most common with the white people population in the United States. It is said that it is found in 2,500 to 3,500 White newborns in one year. There are about 30,000 people in the United States which is affected by Cystic Fibrosis. The average life expectancy for someone with Cystic Fibrosis is around 30 years old.

(HERE IS A PICTURE OF A CHROMOSOME 7 WHICH CONTAINS A DEFECTIVE GENE).

Beta Thalassemia

Beta Thalassemia is a blood disorder. It reduces the amount of hemoglobin you produce, which is a protein that contains iron. Hemoglobin in red blood cells is what carries oxygen to cells throughout your body.

Beta Thalassemia is caused by mutations on the HBB gene which can be found on the short arm of chromosome 11. HBB is a gene that holds instructions for making the protein beta-globin, which is a component in hemoglobin. It is inherited from an autosomal recessive pattern. You can inherit this disorder from your parents even though they don't show symptoms and signs from the condition.

Beta Thalassemia is classified into two types depending on how severe your symptoms are. There is Thalassemia intermedia and the most severe is Thalassemia Major. Those with thalassemia major will experience symptoms or signs of this disorder in the first two years of their lives. Children with thalassemia major will experience delayed puberty, yellowing of the skin and eyes, not being able to gain weight, enlarged liver, spleen, and heart, and their bones maybe misshaped. Those with thalassemia major may experience such severe symptoms that they may need to frequently get blood tranfusions to restore their red blood cell supply. Those with thalassemia intermedia usually only experience anemia. Anemia is a condition in which your body doesn't have enough healthy red blood cells.

You're diagnosed with beta thalassemia depending on how severe your anemia is and by taking a blood test to check for any red blood cell or hemoglobin abnormalities. If your results come back abnormal for either, genetic testing for mutations on the HBB gene will be taken.

Treatment that is available for thalassemia major is having regular transfuctions to help increase the production of iron and correct anemia. The only existing cure is to have a bone marrow transplant from either an identical sibling or a donor. For thalassemia intermedia, treatment consists of having frequent therapy that involves having red blood cell tranfusions.

This is a common blood disorder worldwide. The chances of inheriting this disorder is 1 in 3,600 individuals. It occurs most often in people from North Africa, the Middle East, Central and Southeast Asia, India, and Mediterranean countries.

The life expectancy for someone that isn't treated will die in their early 30's and those that are treated can live a normal lifespan.