Mutation

testing. Some of the benefits of genetic testing include assisting doctors in making healthcare decisions, providing patients with clarity for an illness that would otherwise go undiagnosed, and screening newborn babies for specific diseases or mutations. Despite its benefits, however, there is a plethora of complications that accompany genetic testing. Preimplantation Genetic Diagnosis, potential discrimination, and unnecessary anxiety and even depression…

Genetic testing is a common medical practice used by doctors and researches that identifies irregular mutations and/or defective genes that are susceptible to causing harmful genetic disorders. “One of a Kind” and “Advances in Kids’ Early Aging Disease” are two well-written articles that examine different genetic disorders and the threats they pose on children. Seth Mnookin, author of “One of a Kind,” tells the story of Bertrand Might, who at the time was the only known patient suffering from a…

unique genomic and environmental interactions that an individual experiences (Karelia et al., 2003). Inherited genetic alterations within family shared both directly and indirectly to the pathogenesis of the disease. Mutation is referred to as a change in the gene. Some of the mutation acts better than the original, whereas some can induce problems in an individual. Every individual undergoes some amount of genetic variation. A condition that has been induced by a gene is referred to as a…

this century as vaccines were to the last” (Regalado 27). Jason Pontin, editor of MIT Technology Review, also believes that these medical advances should be used to correct mutations and disorders that could affect a child’s life. If medical advances have been made that can help eliminate diseases such as Huntington’s or mutations that cause breast or ovarian cancer from a child’s DNA structure, why wouldn’t we take advantage of them? Pontin also suggests that if possible, “extraordinary…

that the number of synonymous codons shows a significant correlation with the frequency of their respective amino acids. Furthermore, the redundancy of these codons may be evolutionary favorable. For example, genes have an increased resistance to mutation given the multiple possible codons for each amino acid – the third nucleotide in the codon can often be interchanged without causing any significant effect on the primary sequence of the protein (wobble bases).…

aCGH analyses, representative CTC cultures will be subjected to mutation screening in CTC, CTD-PDX and biopsy materials by whole genome sequencing using NGS for comprehensive molecular profiling of abnormalities at the nucleotide level. NGS data will be transferred to Palanisamy, who will carry out biostatistics and bioinformatics analysis. Given the unbiased nature of NGS analysis, we anticipate identifying new druggable genomic mutations on a personalized…

is caused by a mutation in the Notch 3 gene. Cells containing abnormal Notch 3 receptor proteins results in disrupted normal functionality and ultimately leads to apoptosis of these cells. As the name of CADASIL suggests, it is an autosomal dominant inherited disease. This means that either parent needs to pass down a copy of the mutated gene to their offspring in order for them to develop CADASIL Disease. Underlying Gene Locus The Notch 3 gene is located on chromosome 19…

Ataxia-telangiectasia (A-T) or Louis-Bar syndrome is a rare, autosomal recessive, inherited disease that affects different systems such as the immune and nervous systems (2). The name of the disease provides insight to what happens when an individual has this. Ataxia means poor coordination while telangiectasia mean enlarged blood vessels (2). Individuals show symptoms of this disorder at an early age, typically before the age of 5. Since the immune system is compromised, individuals are at high…

Analysis of the Molecular Basis of Wolman Disease Wolman disease is an autosomal recessive condition that is characterized as the complete deficiency of the lysosomal enzyme, lysosomal acid lipase (LAL).1 LAL is responsible for hydrolyzing triglycerides and cholesterol esters in the body that have been internalized via receptor mediated endocytosis.2,3 Therefore this enzyme functions inside the lysosome to carry out hydrolysis of lipids. Wolman disease is contracted by an estimated 1 out of 350…

A Mutation is a change that occurs in an human’s DNA sequence. It happens when the structure of the gene changes. Making a version that may be transferred to future generations when there’s an alteration of a single base unit in the DNA or the deletion, insertion, or rearrangement of larger sections of genes or chromosomes. Alexandria’s Genesis is a recessive gene that affects the color of the eyes, as well as multiple body parts. It causes the eyes to turn from blue or grey to purple, six…