It can be found in many ethnic groups, but mainly found in Caucasians. With the proper care, the average survival rate of someone with CF is age 40. Known Causes? Cystic Fibrosis is a genetic disease caused by a defective CF gene. There has to be one copy of this defective gene in each parent in order for a child to have this disease.
Inherited Heart Disease According to the Center for Disease Control, “ Heart disease is the leading cause of death for both men and women.” Many people have a family history that affects the progression of their disease. This disease is hereditary, meaning that it can pass from parent to child. Many things can affect a person 's risk for developing heart disease, and genetics is only one of them. However, it 's a very serious risk factor, and impacts the lives of many.There are several kinds of hereditary heart disease, and there 's various types of testing and treatment available. Heart disease is one of many diseases that can be inherited.
The NPC1 gene is located on chromosome 18 and it causes 334 defects mutation in the gene, as well as additional splicing and deletions (3). As recessive trait, the parent caring the disease can pass it on to their offspring. However, at times an individual has “25% chance of being the carrier, 50% chance of being asymptomatic and 25% chance of being unaffected or not a carrier”(4). Although this disease can affect any individual, it is best to noticed by its
Cystic fibrosis (CF), is a disease that is inherited, or passed down through genes from parents to offspring. This disease affects the secretory glands, including the glands that produce mucus and sweat. CF develops when a person inherits two faulty CF genes, one from each parent. Parents, more than likely, don 't have the disease. CF affects many body organs, but mostly the lungs, pancreas, liver, intestines, sinuses, and sex organs (What Is Cystic Fibrosis?, 2013).
Breast cancer sometimes can be dealt with, but not all breast cancer is curable. However, the eradication of these diseases from the gene pool can save millions of lives and preserve the happiness of American citizens affected by this cancer. When breast cancer passes into a vital organ, the problem gets very serious. Gina Cook, who is a breast cancer survivor had to go through extensive surgery, she says “Because of my tumor 's size and it being in three out of 15 lymph nodes they removed from my arm, I began chemotherapy first to shrink the tumor.”(Cook) She then says, “Immediately I began three heavy and hard months of Chemotherapy. Throwing up so weak that I had to hold on to anything in sight to make it to my destination.” (Cook) Chemo therapy weakens the body leading to further damage.
Many people who have or have had family members with haemophilia will ask that their baby boys get tested soon after birth. About one-third of babies who are diagnosed with haemophilia have a new mutation not present in other family members. In these cases, a doctor might check for haemophilia if a newborn is showing certain signs of haemophilia. To make a diagnosis, doctors would perform certain blood tests to show if the blood is clotting properly. If it does not, then they would do clotting factor tests, also called factor assays, to diagnose the cause of the bleeding disorder.
Cystic Fibrosis (CF) is a debilitating genetic disease which is caused by a faulty gene. It affects around 70,000 people around the world. This disease can affect any ethnic group or race, however is most common in Caucasian people (Giddings, 2009). This essay will focus on the symptoms, diagnosis, treatment and the socio-economical importance regarding CF. CF is caused by a fault within the CFTR gene.
This gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the COL4A5 gene in each cell is sufficient to cause kidney failure and other severe symptoms of the disorder. In females (who have two X chromosomes), a mutation in one copy of the COL4A5 gene usually only results in hematuria, but some women experience more severe symptoms. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In approximately 15 percent of cases, Alport syndrome results from mutations in both copies of the COL4A3 or COL4A4 gene and is inherited in an autosomal recessive pattern.
At least ninety percent of people living with this disease are women. Facts show that “Lupus is two to three times more common in African American women than in Caucasian women and is also more common in women of Hispanic, Asian, and Native American descent” as said by lupusresearch.org. People with this can also get flares; feel fatigue, get arthritis, fevers and rashes along their body. Since everyone is different, some people might need medication from anti-inflammation to even taking chemotherapy medication. Doctors are doing what is known as clinical trials to try and find better medicine and a cure.
Harlequin Ichthyosis (HI) is an uncommon genetic disorder due to high quantity of mutations on gene ABCA12. HI infected newborns will have dry and tough outer skin coverings that crack into different plates and create deep fissures that lead to major pain on the skin and are highly prone to infections (Akiyama). Usually, couples who are carriers for HI disease are healthy and do not show signs of HI. However, both carriers of this autosomal recessive disorder will have about 25% chance of conceiving children with HI. GENETICS: Carriers of an autosomal recessive diseases are generally healthy because one of the allele that code for normal proteins is still present, which covers the loss of the mutated allele.