Genetic disorder

This is a test to screen a pregnancy to determine whether a baby has an increased chance of having specific chromosome disorders. The test examines the baby's DNA in the mother's blood. Williams Syndrome Williams syndrome is a rare disorder that can lead to problems with development. It is passed down in the offsprings of families. One of the 25 missing genes is the one that produces elastin, a protein that allows blood vessels…

Many people in the world today have been diagnosed with some type of genetic disorder. Diabetes is one of these genetic disorders, and where it may not be the most common of all genetic disorders, it still plays a strong role in today’s society. There are two different types of diabetes, which each, individually, cause slightly different things to occur in the body. Type 1 diabetes is where the pancreas produces no insulin, a hormone necessary to take glucose from the bloodstream to the cells.…

Genetic Engineering is a controversial technology that has a lot of debate and discussion surrounding it. Scientists and researchers work diligently in labs to improve and experiment with the new technology, while bioethicists look at the possible effects of the technology. The effects that the bioethicists must study consist of society, future, religious, and many more. Some families are eager for the use of genetic engineering to be widespread so that they can eradicate fatal diseases or…

28-year-old daughter, Laurie Clay, to a counselor because she was at high risk of getting Huntington’s disease, a hereditary disease. Due to Laurie’s father, she would be clumsy, fat and forgetful as her father. This is Huntington’s disease, a fatal genetic disorder that causes the nerve cells in the brain to break down. If one of parents is the patient of the disease, each of their children will also inherit the disease by the chance of 50%. Marie’s husband, Phillip, first showed signs of…

Marfan Syndrome Near the end of the 19th century a french doctor Antoine Marfan was the first doctor to notice the effects of a common disorder (Atinder). Marfan syndrome is a genetically inherited disorder that affects the connective tissues that exist through the body. Specifically, Marfan syndrome alters the FBN1 gene and this affects the production of fibrillin (NHGRI). Fibrillin is a protein that is produced by the body to give strength to connective tissue. Without this protein,…

Tuberous sclerosis (TSC) is complex, multifaceted genetic disorder that results in production of hamartomatous lesions that may affect virtually every organ system of the body. The best-known cutaneous manifestation, presented in this vignette, of TSC is adenoma sebaceum. This lesion is an angiofibroma (cutaneous…

* spielmeyer Fogt Hergan * * Batten Disease is a degenerative neurological condition that affect people of all ages, particularly between mid childhood and their early twenties. 
 * The most common form of Battens is Juvenile Battens affecting children between 5-25 years. 
 * It was discovered in 1903 Frederick Batten, a British Paediatrician. [22] 
 * Detected when symptoms such as loss of vision and balance, seizures, minor behavioural changes occur. These are often diagnosed as epilepsy or…

title Huntington’s disease, also referred to as HD or Huntington's Chorea, is an inherited trait in which the human nerve cells in the brain break down over time. In the United States, this rare, unwanted disease affects twenty thousand to two hundred thousand people every year. This illness, slowly but surely, will alter the overall person’s functional ability; including physical, social, and mental decline that stops a person from fully living a normal life. Huntington’s Chorea will start…

Angelman syndrome is a rare genetic disorder that affects around 1 in around 12,000-20,000 live births and affects both males and females equally. Angelman syndrome is very often misdiagnosed as autism or cerebral palsy. Angelman syndrome is not an inherited disease, and is instead caused by a change in the E3 ubiquitin protein ligase gene (UBE3A) on the maternal chromosome 15. This change prevents the chromosome from functioning properly. It occurs as a random event during the formation of eggs…

deciding the gender of the child. The flawed gene passed on by the mother does not have to date back to ancestral connections, either because the family might have not known about the disease and never had a son that inherited it, or the child had a new genetic mutation in the mother’s eggs ("Diseases - DMD”). Therefore, the reason why young men are often diagnosed with this disease is according to their…