My choice for a genetic disorder is Spinal Muscular Atrophy also known as SMA. SMA is an inherited or genetic disorder that affects spinal motor neurons. Without these properly functioning neurons, patients have increased muscle weakness. In some severe cases patients will lose the ability to breath or swallow on their own. According to the National Human Genome Research Center, 1 in 6,000 to 1 in 10,000 people are affected by SMA.…
Introduction The genetic autosomal recessive disorder known as Cystic Fibrosis (CF) effects on average 1 of 28 Caucasians. The average age for patients to be diagnosed with this genetic disorder is around 2 weeks and 2 years old, there are some cases where they are find out sooner and others when they are adults. CF affect the patient’s chloride channels which causes the mucus in their lungs to thicken and pool. It can also affect the pancreas by blocking it up and not allowing it to produce digestive enzymes.…
Autosomal recessive disorder is where both parents are unaware or do not display the genetic disorder they carry and the child inherits both recessive genes in which the child will develop the disorder. Recessive disorders include cystic fibrosis, sick-cell anaemia, and albinism.…
Some patients have a genetic predisposition to developing the disease. Other…
The genetic disorder could be fixed by gene therapy. To make the tissues and organs work correctly, genetic therapy needs a correct copy of the affected gene to try and eliminate…
Abstract Introduction A 2-year and 7-month-old girl is undergoing several treatments to attenuate the effects of type 2 Gaucher disease on her health. She has been diagnosed with type 2 Gaucher disease since she was three months old and several symptoms have appeared during that short lap of time. Case presentation In a type 2 Gaucher disease patient, the lysosomal enzyme β-glucocerebrosidase undergoes mutation and is therefore unable to break down glucocerebroside into ceramide and glucose.…
CYSTIC FIBROSIS. Many humans around the world are carriers of a genetic component that can cause their dependents to be born with a genetic disease that can affect their lives forever. Some of these conditions are currently under investigation by facilities which specialise in genetics testing. Cystic Fibrosis is one of many genetic disorders that can affect devilry the patient and their everyday life.…
This is called a parental disomy. There is no known way to actually prevent your child from having Angelman Syndrome, but if you have a family history of AS or…
Of course theirs is treatment for it, but it cannot be cured. This syndrome is irreversible. Treatment, especially if early, can help reduce some symptoms. There are therapies to help support the child, counseling psychology, and sensory processing. Specialists like pediatrician, provides medical care for infants, children, and teenagers.…
My mutation is about 5p deletion syndrome. 5p deletion syndrome is a deletion in the 5th chromosome. The symptoms for this mutation are high pitched cat like cry, Has delayed development, Has distinctive facial features, A smaller head, Spread out eyes, Low birth weight, And has low muscle weight. This mutation was discovered in France in 1963 by Jerome Lejeune a geneticist. The different things and treatments that people with this mutation have to do.…
Mrs. Schwieterman Biology 20 January 2016 Retinoblastoma Every single day, our cells are duplicating and replacing worn out cells. They are able to do this through the cell cycle in which genetic information is dulicated and split up forming new cells. During the cycle there are various checkpoints monitering the progress of the cell.…
Research Paper: Osteogenesis Imperfecta What is Osteogenesis Imperfecta? Osteogenesis Imperfecta is a genetic brittle bone disorder.…
Many people have Gardners Syndrome and most of the time it is inherited by family. Rarely is a person born without a family member having had it. The effects of this syndrome can affect a person in many ways especially after the surgery needed to treat it. After the surgery the person in most cases will have a counselor to help deal with the syndrome. there are many risks that come along with having this syndrome.…
There are lots of genetic diseases out there in world people don’t even hear of, cri du chat is one of them which is one doctors cannot do anything about but to put the patient in extensive care for the rest of that patient life, love ones and physicians can only stand by and watch the patient fighting life just to stay alive day by day. The name of the disease sounds French because it was discover in France in the past five decades by French scientists, the disease is not widely known of because is a rare disease . Cri du chat is a very rare chromosome disorder where babies are born with a missing chromosome or deleted chromosome; in other words, a missing puzzle piece which not complete due to the missing piece. Cri du chat also translate…
One of the most difficult periods was overcoming my genetic disorder. When I was younger, my parents suspect there was something wrong with me. So they took me to see a Doctor. And have them do test on me. The Doctors diagnosed me with a rare genetic disorder know as VCFS.…