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 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 →]
There has been quite a buzz circulating about the possibility of therapeutic gene silencing strategies. Today I want to take a first look at what these therapies mean. One great example where gene silencing could be used is in polyglutamine disorders. This includes several disorders where genes accumulate, by replication errors, a repeat expansion of [Read More →]
A study published in this month’s issue of Nature Genetics may provide insight into the future techniques of personalized medicine. The articles deals with technical advancements and a proof-of-principle study in identifying the causes underlying rare Mendelian disorders. The techniques involved re-sequencing (another name for next-generation sequencing and massively parallel sequencing) of the exome. That [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 →]
… 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 →]
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 →]
