Couples at high risk for genetic disorders would prefer to have pre-implantation genetic diagnosis (PGD) rather than risk terminating a pregnancy later, a study from Fertility and Sterility Journal showed.

Preimplantation genetic diagnosis (PGD) is performed after in-vitro fertilization where an embryo is tested for mutations that can lead to genetic defects, before being implanted into the uterus. Obviously, PGD reduces the need for prenatal genetic testing in the middle of a pregnancy, and avoid having to choose between terminating or continuing on with the pregnancy.

The study showed that among 210 Dutch couples with genetic disorders, 60% would prefer diagnostic testing and, of these 74% preferred PGD over prenatal testing. Couples who are high risk for specific disorders and where there are definitive genetic tests available, like breast cancer, would benefit from this procedure. There was a report earlier this year of the first “designer baby” born free a risk of breast cancer (she does not have the BRCA1 in her genes).

But I’m not sure that PGD would eliminate passing on all possible genetic mutations to the offspring, especially in complex diseases like heart diseases where there are just too many factors (genetic and environment) that can affect one’s inheritance of a disease.

H/T – LA Times Blog 

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Post from: Genetics & Health

This may sound like a sales pitch, but it’s not. If you’re having problems with your memory, or you want to improve it, then you might want to closely follow the research from this German team  of scientists. Published in the journal for experimental biology (FASEB Journal), German scientists discovered that administering a nasal spay containing interleukin-6 improved the memory of it subjects!

According to the paper, Interleukin-6 exerts “neuromodulating influences on the brain, with promoting influences on sleep”. The researchers hypothesized that IL-6 could help consolidate our memories better during sleep, so they administered a nasal spray of IL-6 to test subjects after they read several short stories before bed. The control and test subjects slept and, the next morning, were asked to recall as much of what they had read the night before. And what do you know? The test subjects remembered more!

I’m not sure exactly how IL-6 affects our memory; I only know it has functions on the immune system, but the study is pretty interesting, isn’t it? The Scientist Community wants to know if you would care to try a memory-enhancing nasal spray were it to make its way onto the market? Would you?

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Post from: Genetics & Health

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 spread of cancer cells from the breast to the lungs (as in the study) when it is turned on, and promotes metastasis when it is knocked down, damaged or absent. The protein from KLF17 attaches itself to the promoter region of the gene Id1 (a key metastasis regulator in breast cancer) to prevent its transcription.

Previous to this study, the function of KLF17 has been unknown so the scientists are still continuing to study KLF17. One possible cancer therapy would be to activate the gene in cancer cells, hence preventing its spread.

The report appeared online this week in Nature Cell Biology.

via Science Daily

Post from: Genetics & Health

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

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.

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.

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