This is such a cool application of genetics! By sequencing all the genes of a patient, scientists diagnosed a congenital disease that could not be identified using clinical observations. Because of the “molecular diagnostics technique”, doctors were able to provide a treatment tailored for the disease.
  The patient, an infant, was persistently dehydrated and failing to gain weight, and researchers uncovered a gene mutation that was responsible to the infant’s condition called congenital chloride diarrhea. Instead of sequencing all the thousand base pairs in a genome, researchers focused only on DNA that encodes proteins, about 1% of the total …read more

Hereditary angioedema (HAE) is a potentially fatal genetic disorder caused by a deficient or abnormal blood protein called C1 inhibitor. It causes swelling of the extremities, face, trunk, abdomen or airways. Abdominal attacks can result in severe pain, nausea, vomiting, cramps and diarrhea. The attacks can be spontaneous but may also be triggered by stress, surgery or infection. Death may result when the airways close because of the swelling. Only 1 in 50,00 to 150,000 people worldwide/ 1 in 10,000 to 50,000 in the US is affected by this rare dominant mutation, but the mortality is quite high (30%) so …read more

Over 90% of deaths from breast cancer are caused by metastasis, when the cancer has returned and spread to other parts of the body, including the chest wall, lymph nodes, bones, lungs, liver or brain. But Breastcancer.org says that metastatic breast cancer is more treatable compared to a cancer that starts in the bones or liver so that’s good news.

Well, researchers from The Wistar Institute has uncovered another good news – they identified the gene that can suppress the spread of tumor cells in the body!
The gene, KLF17, is called a “metastasis-suppressor gene” which prevents the …read more

The normal human karyotype has two sets of chromosomes, one set inherited from each parent, so that we have 46 chromosomes (22 pairs, including either an XX if you’re a female, or XY if male). But sometimes during cell division of the zygote (early in fertilization), the chromosomes don’t divide properly into their respective cells and the developing fetus carries an abnormal number of chromosomes in all cells of the body (termed aneuploidy). Usually the fetus does not survive into full term, but in some cases when the baby does, a rare chromosome disorder happens.
Trisomy happens when there are …read more

A good eight hours of sleep really does our life good, well into the twilight years! A new study has found that sleep abnormalities in midlife may be linked to the onset of Alzheimer’s later in life. Chronic sleep abnormalities include  insomnia, late-night habits, sleep deprivation and irregular sleep habits.
Alzheimer’s is triggered as the peptide amyloid-beta transforms into plaque in the brain’s fluid, and amyloid-beta naturally increases during the day and decreases at night. Published in Science Express, neurologist Jae-Eun Kang and her colleagues found, in both men and mice, that concentrations of amyloid-beta increases during periods of sleep …read more

Music and cancer do not go together, and I mean that in the context of this new technology:
A project at Harvard Medical School created a program to translate the signals from cells into musical notes. Normal signals will sound harmonious, abnormal signals like those coming from cancer cells will sound awful.
Listen to this –
 

 
Using date from a pre-existing colon cancer study, bioinformatician Gil Alterovitz and his team created a program that transforms complex genomic information into musical notes, so that abnormal data will sound discordant.
“When things go awry, such as in the case of p53-null mutant …read more

First it was “Dirty Dancing” then it was “Ghost”, and Patrick Swayze danced his way into every girl’s heart (including mine) who wished to find the same sensible and sensual man that Swayze portrayed in his films. So it’s with such a loss that tonight, Swayze’s publicist announced that the actor had died.
After battling a deadly form of pancreatic cancer for almost two years, Patrick Swayze died Monday at his home in Los Angeles, and my condolence goes out to his family.

When the news first broke in March 2008 that Swayze has cancer, he was given a prognosis of anywhere …read more

Take a look at this! Scientists have found a way to change our fat into the “miracle” cure-all that stem cells are purported to be.
Using fat that were removed during liposuction, Stanford researchers found a method that reprograms these millions of fat cells into a state that is similar to embryonic stem cells!
The fat cells are genetically reprogrammed back into “induced pluripotent stem cells” or iPSCs which have the potential to grow into any cell or tissue. Like embryonic stem cells, iPSCs can be used to replace damaged or destroyed organs, and treat a variety of diseases …read more

Persistence really pays off, and this is especially true in genetic studies. After 35 years of combined research, a father-and-son team has finally identified the source of the gene that causes the heart’s electricity to go awry.
For three hundred years, a South African family has been plagued by progressive familial heart block, a disease of the electrical system of the heart. The disease causes an affected person to have irregular heart beats, fainting spells, seizures or sudden death. The risk is greatest soon after birth, during puberty and early twenties and returns in the middle age, and a …read more

Imagine having been born from a biological dad, and two biological moms. Wait. Don’t imagine. It’s already happened. For now in monkeys, but who knows someday in humans too. And based on your belief, it’s a “no way!” or a “way to go!”.
How did a three-parent experiment happen?
Scientists from the Oregon National Primate Research successfully transferred the nuclear DNA from one macaque into another cell which had it’s mitochondrial DNA removed (termed mitochondia gene replacement). The hybrid egg cell was fertilized by a sperm and implanted into the uterus of a surrogate mother. Out of the fifteen hybrid …read more