Point mutation

Under normal physiological conditions, the function of the colon and the rectum is responsible for the very last phase of digestion. Water is absorbed from the digested material (mostly liquid at this point) by the colon to form stool. Subsequently, the dehydrated stool then moves into the rectum for storage until signals are sent for its expulsion from the anus (Silverthorn, 2012). When carcinomas occur in either the colon or the rectum, they are collectively labeled as colorectal cancer.…

Hereditary diseases are genetic disorders that occur when mutated genes carrying certain mutations are transferred from parents onto an offspring. Genes are the factors that codes for proteins and deficient form of gene cause due to mutation in genes give rise to deficient form of protein. Wolff-Parkinson-White (WPW) syndrome is a hereditary disease. WPW syndrome causes chronic heart disease which is associated with ventricular pre-excitation and a thicker ventricle muscle. Patients with the…

A case on cancer cell By Shamik D. Majumdar What does cancer cell mean? Normal cells can repair themselves if any part gets damaged . This process is known as DNA repair. If the damage is too bad, they will self slaughter- known as apoptosis. (1) The molecules in cancer cells decide whether a cell should repair itself or not .EX: “a protein called p53 normally checks to see if the genes can be repaired or whether the cell should die”, so basically it…

Everyone Can’t Be Super Seeking perfection in an imperfect world has been a massive dilemma in today’s society. The rapid development of technology in this generation has created many new opportunities for genetic engineering. In California, a personal-genomics organization has been awarded a U.S. patent for techniques used in fertility clinics to create babies with selected traits. This human modification will lead to the controversial idea of designer children with artificial attributes.…

A Scientist’s Point of View We already know the basics of genetic testing, but I wanted to get a more professional and personal view on this medical controversy that is why I decided to knock on the door of Emma Rennie. Emma is a Ph.D. R&D scientist who works for Agilent Technologies in Santa Clara, and when she first introduced herself I was very intrigued about what she was going to say. It all started on a cloudy Saturday afternoon, I was eagerly waiting for Emma to open the front door. I…

There are 5 different known types of ALS. Familial, which is inherited. “Only about 5 to 10% of all ALS patients appear to have genetic or inherited form of ALS. In those families, there is a 50% chance each offspring will inherit the gene mutation and may develop the disease.”(“Forms of ALS,” 2015) Classical ALS, which affects two-thirds of people and it affects upper and lower motor neurons. Primary Lateral Sclerosis (PLS), is the rarest form and it affects the upper neurons with the…

why is surviving still such a struggle? Dr. Sharon Moalem’s Survival of the Sickest deals entirely with the study of evolution and a variety of theories related to how humans, genes, microbes, viruses, and animals have evolved to survive through mutation and natural selection. Each chapter begins with anecdotes that lead into a well-researched collection of evidence and theories related to different aspects of evolution. First, Dr. Moalem covered the history of hemochromatosis, a disease where…

With the completion of the Human Genome Project in 2003, we were given the ability to identify every gene that forms the building blocks of a human being. Researchers are attempting to use these blueprints to make perfect children with the screening of embryos before they are implanted into the mother’s uterus; a procedure called Pre-Implantation Genetic Diagnosis. This screening shows the presence of any genetic defect, including traits not related to the embryos health. Today screenings are…

from Medical College of Wisconsin used exome sequencing to diagnose and treat a severe case of inflammatory bowel disease (IBD) in a young boy (Perkel, 2013, p. 263-264). Through exome sequencing, the researchers were able to discover a "single point mutation in the X-linked inhibitor of apoptosis (XIAP) gene" (Perkel, 2013, p. 264). After the discover of the mutated gene, the young boy was then treated with a cord blood transplant. This is not the only instance where exome sequencing was used…

disease occurs when a B cell, which is an infection fighting cell, develops a mutation in it's DNA. This mutation makes the cells continually and rapidly divide and live beyond their normal lifespan. The overgrown, mutilated cells crowd in the lymphatic system and and push the normal, healthy cells out. Although some people with Hodgkin's Lymphoma do not experience any, there are multiple possible symptoms that point towards the disease. The most common sign is lumps under the skin of…