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 →]
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 →]
