Discoveries have been made about genetic variations that may indicate a person’s risk for developing a life-threatening blood disorder through blood-plasma tests. These tests can help doctors “detect disease, predict therapy response, and monitor disease progression using plasma rather than cells, replacing, in some cases, the need for painful bone-marrow biopsies”.
This will help patients with leukemia and lymphoma since many times they develop other disorders caused by treatment for the cancer. The blood-plasma test will help indicate their risk for these diseases and therefore can better prepare by storing the patient’s own stem cells for later bone marrow transplants.
Alzheimer’s is a very scary and sad disease that is not very well understood. The protein amyloid-beta is a normal product of metabolism in the brain. In most human beings, this needs to be disposed by ways of the spinal cord. However, in Alzheimer’s patients, the amyloid-beta is removed much slower than normal and causes plaque on the brain.
This discovery could help in understanding the disease and diagnosing and treating patients for it even before they develop symptoms. I think this is an awesome breakthrough since so many people are affected by this horrible disease.
http://www.guardian.co.uk/science/2010/dec/09/alzheimers-clearance-amyloid-protein-brain
Okay, so this isn’t the most important genetic discovery in the world but i think it’s pretty cool. Mammals have a dormant ability to re-grow healthy tissue which may have been lost through evolution. Researchers believe that a gene called p21 holds the key to healing. They engineered mice that had that gene switched off. The scientists would surgically remove tissue and punch holes in the mice’s ears, which seems cruel to me, but after just a couple weeks the mice had completely recovered and there was no evidence of injury. I think that once this is better understood it could be helpful in patients who have unsightly scars or even patient who have damaged organs.
However, in adult cells the p21 gene acts as an anti-cancer mechanism. So since this discovery is recent, scientists do not understand how switching off the p21 genes will affect the mice in the long run
Meiotic recombination causes sequence polymorphism, which is to thank for genetic variance. Although this is an important process, the mechanism of how it works is poorly understood. Error in recombination can be the cause of chromosomal abnormalities. Knowing where they originate, and how inheritable they are could be important in understanding them.
This article explains three methods of estimating recombination rates which is associated with sequence polymorphism. These methods include: sperm-typing, pedigree data, and linkage disequilibrium. Through the use of these methods, the hotspots can provide information for disease-association studies.
http://www.nature.com/nature/journal/vaop/ncurrent/full/nature09603.html
The article is interesting because it shows that there actually may be some way to reverse the effects of aging. It is known that every time a cell divides the ends of the chromosomes, called telomeres, shorten. After many divisions, the telomeres become so short that the cell stops dividing and dies. This is the reason for aging.
Scientists at the Dana Farber Cancer Institute in Boston wanted to test if the reactivation of the enzyme telomerase could reverse the damaging effects of aging. They purposefully engineered mice with telomere dysfunction and inactive telomerase. In their adult years, the mice had atrophied organs and smaller brains than normal mice. Just four weeks after the telomerase was reactivated the mice, new brain cells were developing and tissues in the atrophied organs began to regenerate. This is a major breakthrough and may lead scientists to develop some kind of medicine to help reverse multi-system degeneration.
