The first step in understanding a genetic disease is learning to which extent genetics play a role in it’s development, i.e. Is is really a genetic disease? For many illnesses, it’s not entirely clear what role genetics versus environment play, or how complex their interaction is. There are several tests geneticists can use to uncover [Read More →]
CETP is a gene that has been the darling of medical genetics for some time. It’s latest foray into health matters is what appears to be an association between a specific variant (read allele) and a decreased incidence of Alzheimer’s Disease (AD). So before I get into the newest research, let’s take a look at [Read More →]
For men, prostate cancer accounts for 25% of all cancer cases. But diagnosing the cancer is not without controversy. The usual method of detecting the cancer is by screening for Prostate-Specific Antigen (PSA), which can lead to early detection and treatment of the disease. Some studies have shown that the PCA test results in high [Read More →]
… and what is it good for? This is a pretty controversial issue, so you’ve probably already heard the term, but what does it really mean? Genetic Diagnosis is a very generic term. Here, detecting Single Nucleotide Polymorphisms (SNPs)- single changes in the sequence of DNA- is what is veing investigated. Preimplantation refers to our [Read More →]
Since the mid 90s everyones favourite carnivorous marsupial, the Tasmanian Devil, has been suffering from an unusual from of cancer called Devil Facial Tumor Disease. What’s so unusual about this cancer is that it’s transmissible. That means it can be passed onto another, unrelated animal. This occurs through biting during mating and feeding when the [Read More →]
Studying the genetics of cancer often involves looking specifically at cancerous cells (that is, tumor cells) and asking what is different about those cells than the regular cells they were before. For example, what mutations are present in the DNA of a cancer cell, that could be the cause of the cancer? Also… different genes [Read More →]
There is such a wealth of information in this press release from the University of Pennsylvania titled Genetic Study Led by University of Pennsylvania and Cornell Clarifies African and African-American Ancestry. I’d like to focus on one aspect, namely one of the important advances: “A technique which can reliably distinguish African and European ancestry for [Read More →]
The origins of disease can take many forms. We can think about environmental causes, which means basically anything outside of genetics. These could be things like pollution, a virus/bacteria/fungus infection, mal- or under-nourishment, injury… the list goes on and on. There are also genetic causes. Understanding which malfunctioning genes lead to diseases is an ongoing [Read More →]
A common term in genetics research these days is Massively Parallel Sequencing. It’s been around for a number of years, but it still gets researchers very excited. It’s not often communicated to the lay person, because, well… it sounds kinda goofy, and the details are a bit hard to grasp. But let me try to [Read More →]
In studying the molecular changes leading to Alzheimer’s Disease (AD), researchers have focused on the presence of Amyloid plaques in the brain. Plaques are dense deposits of proteins found in the brains of AD patients but less frequently in healthy brains. A major constituent of these plaques is the protein beta-Amyloid. Dissecting the significance of [Read More →]
