Ciliopathy

Molly Press Level 3 Biology Achievement Standard 3.2 – Integrating biological knowledge to develop an informed response to a socio-scientific issue. The use of IVF and Pre-implantation genetic diagnosis (PGD) PGD is a process that individuals go through when carrying out IVF. It’s is when they screen an embryo for a particular genetic defect that their baby could be born with. The goal for PGD is to produce a baby that is ‘healthy’; this raises questions on what is a healthy baby. The first step of the PGD process is to carry out IVF which is the creation of an embryo. Once the embryo has been created two or one cell are removed. The cells are then sent away and genetically tested for a specific genetic condition of the parent’s choice. If the embryo is clear of the genetic condition it is then transferred to the woman’s uterus. Some of the common conditions that they test for are: • Haemophilia • Cystic Fibrosis • ß-Thalassaemia • Huntington’s disease • Fragile-x • Spinal Muscular Atrophy • Myotonic Dystrophy • BRCA gene • Down’s syndrome The fact that PGD is able to test for more than 100 different genetic conditions is a huge benefit. PGD screening is performed before the embryo is implanted which allows the couple to decide if they want to continue with the pregnancy which is another benefit. There are also Disadvantages to PGD. It can reduce the probability of having a child with a genetic disorder but cannot eliminate the risk completely. But also there are…

Løken-Senior syndrome is “a rare, ciliopathic, autosomal recessive disorder characterized by nephronophthisis and progressive eye disease (“Løken-Senior Syndrome” 2003). Estimates show that most rare diseases have identified genetic origins (“Rare Disease” n.d., para 5). In addition, genetic research has suggested that a large number of genetic disorders that were not previously identified as related are actually highly related in the genotypical root cause of the disorders. Løken-Senior…

Characteristics of this disease include polyuria, polydipsia, overall weakness and fatigue (Nephronophthisis, 2015). This disease process involves cysts located in the corticomedullary region of the kidney. Anemia can also been seen in children who have nephronophthisis. This disease can be progressive and lead to end-stage renal disease (ESRD). ESRD includes characteristics such as the kidneys not being able to function properly and filter waste products appropriately. Nephronophthisis is an…

One disorder is Bardet-Biedl which is a ciliopathy human genetic disorder that produces many affects and body systems. This disorder is characterized principally by obesity and renal failure. It is also known as an autosomal recessive genetic disorder. This means that both parents passed on the genetic trait in order for their child to get the disease. This can affect both males and also females. Another disorder is called the Prader-Willi syndrome. The Prader-Willi Syndrome is a genetic…

For instance, leptin deficiency, which is known to be a genetic cause of obesity. Leptin is a type of hormone that is mainly produced in fat cells but is also produced in the placenta. Leptin regulates weight by informing the brain to eat less food when it knows that the storage of body fat is too high. If leptin is not informing the brain to eat less food or the body isn’t producing enough leptin, the control is gone, and obesity is taken place. The role of leptin is a replacement for the…