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October 7, 2009

The World’s Greatest DNA Detective

Filed under: genes — heaven @ 3:57 am

It all started when I read about the mystery of the “Unknown Child” who drowned in the Titanic. In 1912, a small child, wearing a petticoat, frock, socks and leather shoes, was found among the wreckage of the Titanic and buried in Nova Scotia. The boy became known as The Unknown Child, and a symbol for all 53 children who died.

Nothing was left in the grave of the child except three little teeth, and clues that lead to two possible identities: 13-month old Eino Panula of Finland, and 19-month old Sidney Goodwin of England. So the U.S. U.S. Armed Forces DNA Identification Lab turned to someone who was great at finding people – DNA Detective Colleen Fitzpatrick.

Fitzpatrick is a nuclear physicist who gave up her day job to become a forensic genealogist, one finds people – dead or alive –when no one or nothing else can.

“When the U.S. military found a severed arm from a 1948 plane crash, they called Fitzpatrick. When Titanic experts exhumed the remains of the Unknown Child, they too called Fitzpatrick.”

Says Fitzpatrick of herself, “I can find anybody in the world." After looking through records that went back to 1800, Fitzpatrick solved the mystery of the Unknown Child, and after that the mystery of the Severed Arm. Colleen is also involved in the Amelia Earhart Project, and uncovering two fraud cases involving WWII survivor and a Holocaust author.

The OC Register is writing a 4-part series about the DNA Detective and her latest mystery “B.K. Doe”, a man who lost his memory after being beaten and left naked behind a Burger King.

Read the articles. It’s like reading a mystery novel, only the stories are true.

Post from: Genetics & Health


October 1, 2009

When Rare Chromosome Disorders Occur

Filed under: Uncategorized — heaven @ 3:59 am

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 three copies of a chromosome, instead of the normal two copies.

depphotos067064-1824371-down-syndrome-female Take for example Down Syndrome, which is caused by an extra copy of chromosome 21, resulting in 47 chromosomes.  Every person with Down’s Syndrome has the characteristic asymmetrical skull, slanting eyes, stocky build and some degree of mental retardation.

The Triple-X Syndrome is caused by, obviously, an extra X chromosome in each of a female’s cells (XXX), and girls are taller, thinner and have a higher incidence of dyslexia.

Klinefelter’s Syndrome is caused by an extra X chromosome in a male (XXY), and the men tend be shy and quiet, are taller with longer legs and arms, and have a higher incidence of dyslexia. The men are also sterile and so can not pass on the disorder to the next generation.

There is also Trisomy-8 mosaicism, where there are some cells in the body with an extra copy of chromosome 8, while other cells have the normal number, and the symptoms are far-ranging.

As you can see, having a trisomy or chromosome abnormality is difficult for the individuals and families involved. With proper management of the symptoms, rehabilitation and therapy, these individuals can live some comfortable level of quality-of-life.

depphotos067064-1824371-down-syndrome-life

 

It was heartwarming to come across this website – www.rarechromo.org – that is a wonderful support group for the families and professionals treating them.

Post from: Genetics & Health


September 30, 2009

Irregular Sleep Habits Linked to Alzheimer’s

Filed under: insomnia — heaven @ 10:13 pm

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.

571215_33614961-sleep-sunchasers-sxcAlzheimer’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 deprivation. When the researchers kept mice awake for an extra 6 hours, the levels of amyloid-beta spiked. So the scientists are suggesting that the sleep-wake cycle may play a role in the onset of Alzheimer’s.

Kang and colleagues furthered their study by treating the insomniac mice with almorexant, which is being tested as treatment for insomina. They found that the levels of amyloid-beta was suppressed, and fluctuations in natural wake cycle were eliminated. Plus, an 8-week treatment of almorexant decreased the amlyloid plaque build up in the mouse brain!

The scientists are saying these are preliminary results and further studies are needed to confirm the use of almorexant as therapy for Alzheimer’s. Meantime, maybe we really should get some sleep… unless you have the rare gene allows certain people to sleep on less hours without any adverse effect.

 

Via The Scientist; Image: sxc

Post from: Genetics & Health


Detecting Cancer Through Music

Filed under: Genetic Future — heaven @ 8:11 pm

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 colon cancer cells under inflammatory stress conditions, gene expression varies slightly, and inharmonious chord progressions result. Listening to the results — a symphony of electronic harpsichords, recorders, flutes, and oboes — tells the story. (via The Scientist)

Cool isn’t it? The program has been so successful that Alterovitz has been contacted by the US Navy for monitoring sonar signals, and Verizon (the phone company) for keeping track of their complicated networks!

Post from: Genetics & Health


September 29, 2009

Interview Expert Addreses Swine Flu Vaccine

Filed under: genes — heaven @ 5:54 am

Countries all over the world are taking serious steps to stop the swine flu pandemic. China began its mass vaccination last week. And by October 5, the United States will distribute the first wave of swine flu vaccines, good for 6 million to million people. But the swiftness of government health agencies and the World Health Organization to address this issue is evidence about how rapid the H1N1 influenza virus has spread.

maxphotos220552-vaccine-h1n1 It bears repeating that we need to take precautions in protecting ourselves and our families against the H1N1. What symptoms do you look for in swine flu? The symptoms of swine flu are similar to regular season flu, so report to your doctor if you have any symptoms. You will not know just from the symptoms what kind of flu you have.

I know it can seem very confusing with all the flu viruses going around. Wasn’t there a time when the bird flu was the pandemic scare? And when that didn’t happen, the swine flu took us by surprise!

So I spoke to an children’s infectious disease expert from Seattle Children’s Hospital to get some understanding about the global pandemic that is the H1N1 flu. Dr. Danielle Zerr is the co-chair of the Infection Control Committee at Seattle Children’s Hospital.

Dr. Zerr talked about three main points:

  • The H1N1 is a humanized flu virus, whereas the bird flu was a purely bird flu type. And this human component makes us easily vulnerable to it.
  • Should there be enough for everyone, people should get vaccinated, including older children and young adults.
  • The vaccine works within two weeks of getting the shot.

More after the cut.

What makes humans so vulnerable to the swine flu?

Dr. Danielle Zerr: People don’t have immunity to it so it is able to pass easily from person to person, and infect large numbers of people.

This virus is a humanized influenza virus. There’s a genetic component from swine, bird and human flu viruses, it can spread easily from person to person. Whereas the bird flu is very much a bird flu strain. The concern with bird flu was that it would gain a human component and become humanized and spread easily.

So the swine flu already combined with human genes so that makes us more vulnerable?

Right and we should call it a novel H1N1, just to be clear, because it’s clearly not just a swine flu.

How fast is the virus mutating?

Zerr: Relative to the vaccines? Typically the vaccine being developed should be good for us this season. Then you will see small changes happen so that by the next seasons forward it won’t be as good as a match. But we can be confident that it’s good this season. [H1N1 flu virus] doesn’t mutate that quickly.

The studies have shown that with the novel h1n1 vaccines, in adolescent and adults, over 90% are getting a good antibody response to the vaccine.  There are studies in children that are ongoing and being completed. I haven’t seen the results from those studies except there is an indication that younger children will need two vaccines to get the good antibody level to protect them from the flu.

If we had enough vaccines, should everyone get vaccinated?

Zerr: If we had enough vaccines everyone could get vaccinated, but in the beginning won’t be enough. The CDC has designed a plan who should get it first, and then when there’s more vaccine other groups can get it.

How quickly does it work?

Normally people will have good antibody levels after two weeks after having the vaccines.

Why are young people between 20-30 the age group with highest incident (or mortality)? They’re supposedly the most fit.

I would need to see the data that you’re talking about. I don’t know that their the group has the highest mortality rate. But in this age of children and young adult, they’re the ones that are being infected at a very high frequency.

Would that have anything to do with their make-up or exposure?

It’s an exposure issue. When you think about kids and young adults in school, in colleges, in their social settings, there’s just much more potential for exposure.

Are there studies that show higher risks of genetic susceptibility in some segment of the population? Are there segments in society that have natural immunity?

I haven’t seen that.

Image: Newscom

Post from: Genetics & Health


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