Celiac disease is characterized by an immune response to glutin and similar proteins found in wheat, rye and barley. For individuals with celiac disease, eating glutin results in an inflammed small intestine, diarrhea and fatigue, among other symptoms. It’s estimated that about 1% of all Americans suffer from celiac disease. Given the heritability of the [Read More →]
A fascinating thing about DNA replication is that the actual process lacks the ability to replicate the very ends of chromosomes. That means chromosomes should get shorter with every round of cell division (DNA replication), but they remain more or less the same length, getting gradually shorter with aging. The natural shortening of chromosomes is [Read More →]
A striking discovery in medical genetics is that some apparently disparate diseases may have similar underlying genetic dysfunctions. Take for example, familial dysautonomia (FD), described in Slaugenhaupt et al. (2001): The loss of neuronal function in FD has many repercussions, with patients displaying gastrointestinal dysfunction, abnormal respiratory responses to hypoxic and hypercarbic states, scoliosis, gastroesophageal [Read More →]
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 →]
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 →]
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 →]
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 →]
I want to use the publication of an article entitled It’s in your genes: The connection between addiction and other disorders to point out how very misleading and incorrect interpretation of scientific studies can be. When studying the genetic causes of a disease, it’s very useful to know the heritability of that disease. That is, [Read More →]
