Aims/Objectives of Investigation
I am intrigued by the process of clinical investigation and the development of medical care in disorders that currently immedicable and incurable. My prime aim for this project is to examine and investigate the current state of medical research regarding treatment, therapies and understand the leading solutions in the aim to cure Tay-Sachs disease. This includes exploring the achievements attained and challenges facing the medical researchers and clinical scientists involved in this field. Further to this, I will be investigating the genetic causes of Tay-Sachs disease, the symptoms and progression of the disease and how it is tested for.
Introduction to Tay-Sachs Disease
Tay-Sachs disease is a relatively …show more content…
The two main forms of antenatal testing for such a disease are chorionic villus sampling and amniocentesis. During chorionic villus sampling, a sample of cells will be removed from the placenta. This is achieved most commonly by using a needle in a process called transabdominal CVS, or more uncommonly by transcervical CVS, in which either a tube or a pair of forceps are inserted through the cervix. These processes pose their own risks, with the most notable being that it is documented to cause miscarriage within the first 23 weeks of pregnancy in 1-2% of patients. The alternative procedure, amniocentesis, is performed by removing a small sample of the amniotic fluid that surrounds the foetus in the uterus. Cells from the foetus are located within the fluid and the DNA is tested for genetic abnormalities. This procedure also carries the risk of infection due to the invasive nature of the operation …show more content…
Due to the associated respiratory problems, this is a primary focus for current therapies. It is common for food to become lodged in the lungs which can trigger an infection known as aspiration pneumonia. This is usually treated with a course of antibiotics which, depending on severity will either be administered orally in tablet form or, if the airways have become inflamed, as injections. [5] Aspiration pneumonia is exacerbated by the related progression in muscle weakness. This results in excessive drooling and a poor cough reflex which in turn causes mucus to settle in the lungs. Mucus congestion is hindered by chest physiotherapy, such as rubbing and patting on the back of the patient. [6] Excess drooling is often combated by using travel sickness patches that contain hyoscine hydrobromide, a side effect of which is a dry
I am intrigued by the process of clinical investigation and the development of medical care in disorders that currently immedicable and incurable. My prime aim for this project is to examine and investigate the current state of medical research regarding treatment, therapies and understand the leading solutions in the aim to cure Tay-Sachs disease. This includes exploring the achievements attained and challenges facing the medical researchers and clinical scientists involved in this field. Further to this, I will be investigating the genetic causes of Tay-Sachs disease, the symptoms and progression of the disease and how it is tested for.
Introduction to Tay-Sachs Disease
Tay-Sachs disease is a relatively …show more content…
The two main forms of antenatal testing for such a disease are chorionic villus sampling and amniocentesis. During chorionic villus sampling, a sample of cells will be removed from the placenta. This is achieved most commonly by using a needle in a process called transabdominal CVS, or more uncommonly by transcervical CVS, in which either a tube or a pair of forceps are inserted through the cervix. These processes pose their own risks, with the most notable being that it is documented to cause miscarriage within the first 23 weeks of pregnancy in 1-2% of patients. The alternative procedure, amniocentesis, is performed by removing a small sample of the amniotic fluid that surrounds the foetus in the uterus. Cells from the foetus are located within the fluid and the DNA is tested for genetic abnormalities. This procedure also carries the risk of infection due to the invasive nature of the operation …show more content…
Due to the associated respiratory problems, this is a primary focus for current therapies. It is common for food to become lodged in the lungs which can trigger an infection known as aspiration pneumonia. This is usually treated with a course of antibiotics which, depending on severity will either be administered orally in tablet form or, if the airways have become inflamed, as injections. [5] Aspiration pneumonia is exacerbated by the related progression in muscle weakness. This results in excessive drooling and a poor cough reflex which in turn causes mucus to settle in the lungs. Mucus congestion is hindered by chest physiotherapy, such as rubbing and patting on the back of the patient. [6] Excess drooling is often combated by using travel sickness patches that contain hyoscine hydrobromide, a side effect of which is a dry