Mutation rate

In the article "Schizophrenia begins in the womb, study suggests" by Honor Whiteman on the Medical News Today discusses the research devoted to Schizophrenia. The article talks about the abnormal gene labeled FGFR1 that can impair brain development early on. The scientists believe that this research could then find treatments and maybe prevent schizophrenia in the utero. Treatments such as giving pregnant women a drug that could prevent the process developing in the fetus. They discuss that…

Klippel-Feil Syndrome: An Overview According to the National Organization for Rare Disorders (2016), Klippel-Feil syndrome (KFS) is a rare disorder of the skeletal system characterized by cervical spine fusion of two or more vertebrae. The disorder was first documented in 1912 by two doctors Maurice Klippel and Andre Feil (NORD, 2016). Individuals with KFS often exhibit the hallmark features such as a short neck, low hairline, and limited neck mobility. Additional associated malformations may…

The concept of genetically engineering humans was once confined to the franchises of fiction – stories of half-humans and shapeshifters, transgenesis and cyborging, genetic superpowers and mutations. The list goes on, but one crucial thing has changed – now these once impossible ideas have seemingly become attainable. Ever since female scientists in the United States and Sweden discovered CRISPR-Cas9, the scientific community has been debating over how to use this new power in their hands.…

Mutations in genes can have complicated relationships and interactions that affect the phenotype of an organism. Possible genetic variations include nonsynonymous mutations, deletion of coding sequences, translocations, transposable element insertions, alterations within introns and disruption of regulatory elements, as examples. These alterations can cause a range of phenotypic effects from no effect to cell death for essential genes. Disruptions that result in an essential phenotype are…

deafness (1). Among these genes the gene with the most significant impact on the population genetics and genetic counselling is the GJB2 (connexin-26) gene with the mutation c.35delG that accounts for the majority of mutations in deaf Caucasians (2, 3). Studies published so far have reported the differences in frequency of the mutation in different populations, and its variability in clinical impact on hearing impairment (4, 5). The disorder is highly heterogeneous; every population has a…

Metabolic diseases are when you have to little or too much of something. Also, metabolic diseases are usually common in autosomal diseases like Huntington’s. Huntington’s disease is caused by a polyglutamine expansion mutation. This means that “Striatal GABAergic medium spiny neurons (striatal neurons) are particularly vulnerable to HD, being progressively depleted in strong correlation with symptom severity (Oliveira, 2010 pg 1).” Huntington’s disease slowly diminishes…

This memorandum is to inform you of my interest in joining the Peer Support Program. Below I have gone into great detail about my personal life, as I feel that it is important in choosing the appropriate individuals for this program. I truly believe having someone on the peer support team that has experienced personally the stresses that we come across and how to overcome stresses. Recently (with in the past year), I have had the opportunity to realize the toll that this profession takes on…

Marfan syndrome is a strange disease. It is genetic, and it is very rare. Sadly, it makes leading a normal life harder. On the plus side it can be treated. Marfan syndrome is a disease that affects your connective tissue. Organs and eyes are not held in the correct position and fingers, toes, arms, and legs seem too long for their body. It also can limit the gripping ability in their hands. This disease is not contagious. It is inherited genetically because of nitrogen bases matching…

Farber lipogranulomatosis, or simply Farber’s disease, is a lysosomal storage disorder that involves the hydrolysis and use of lipids. A lysosomal storage disorder is a defect in the function of a lysosome, enzymes that hydrolyze large molecules and then move the fragments on to other parts of the cell for other uses. Farber’s disease is a rare, genetic condition that involves a deficiency in the enzyme, ceramidase. Ceramidase is a lysosomal acid that causes cell growth, cellular differentiation…

There are no relevant risk factors associated with Progeria but researchers have discovered that Progeria is caused by a genetic mutation in the LMNA gene which is necessary to produce Lamin A, a protein that helps maintain the structure of the nucleus in a cell. Due to this defection Lamin A cannot do it’s job properly and the nucleus is unstable. When comparing the structure of a…