Category Archives: Genetic Medicine

ScienceDaily (July 2, 2012) Researchers at Moffitt Cancer Center working with colleagues at three other institutions have validated a link between a rare genetic variant and the risk of glioma, the most common and lethal type of brain tumor. The validation study also uncovered an association between the same rare genetic variant and improved rates of survival for patients with glioma.

The study, the first to confirm a rare susceptibility variant in glioma, appeared in a recent issue of the Journal of Medical Genetics, a journal published by the British Medical Association.

"Glioma is a poorly understood cancer with high morbidity and devastating outcomes," said study lead author Kathleen M. Egan, Sc.D., interim program leader of Cancer Epidemiology and vice chair of the Department of Cancer Epidemiology. "However, the discovery of the association of the TP53 genetic variant rs78378222 with glioma provides new insights into these tumors and offers better prospects for identifying people at risk."

According to the authors, their study "genotyped' the single nucleotide polymorphism (SNP, or "snip") rs78378222 in TP53, an important tumor suppressor gene. The researchers said the SNP disrupts the TP53 signal and, because of its activity, has been linked to a variety of cancers. This study linked the presence of the rare form of rs78378222 to deadly glioma.

The researchers conducted a large, clinic-based, case-control study of individuals age 18 and older with a recent glioma diagnosis. A total of 566 glioma cases and 603 controls were genotyped for the rs78378222 variant.

Study results reveal that the odds of developing glioma were increased 3.5 times among the rare variant allele carriers. However, when researchers examined the impact of rs78378222 on survival, they found an approximately 50 percent reduction in death rates for those who were variant allele carriers.

"That the variant increased survival chances was an unexpected finding," Egan said. "It is tempting to speculate that the presence of the risk allele could direct tumor development into a less aggressive path."

The researchers concluded that their study results "may shed light on the etiology and progression of these tumors."

In addition to researchers from Moffitt, researchers from The University of Alabama at Birmingham, Emory School of Medicine and Vanderbilt University participated in the study and co-authored the paper.

The study was supported by funding from Public Health Service Grants R01CA11674 from the National Cancer Institute and the U.S. Department of Health and Human Services, as well as institutional funding from Moffitt and the Vanderbilt-Ingram Cancer Center.

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Activity of rare genetic variant in glioma validated

Public release date: 2-Jul-2012 [ | E-mail | Share ]

Contact: Christine Bauquis christine@eshre.eu 32-499-258-046 European Society of Human Reproduction and Embryology

Istanbul, 2 July 2012: Preimplantation genetic diagnosis (PGD) for the breast cancer genes BRCA1/2 is now feasible and established, with good success rates for those treated, according to investigators from the reproduction, oncology and genetics centres of the university hospitals of Maastricht and Brussels. The results follow a review of the largest number of PGD treatments for BRCA1/2 in Europe and were presented today at the annual meeting of ESHRE (European Society of Human Reproduction and Embryology) by Professor Willem Verpoest from the Centre for Reproductive Medicine at Vrije Universiteit Brussel, Belgium.

Behind his vote of confidence lie 145 PGD cycles for BRCA1/2 mutations performed in 70 couples at the two centres (a mean of 2.1 cycles per woman). Almost 60% of the mutation carriers were female, two-thirds with a BRCA1 mutation. Just over one quarter (26.2%) of female carriers had undergone a prophylactic bilateral mastectomy.

Following IVF, 717 embryos were found suitable for genetic analysis, and of these 43.1% were diagnosed as affected by the mutation, with 40.7% unaffected and thus suitable for transfer (the remainder had an abnormal genotype or the analysis was inconclusive). Hence, 62.1% of the PGD cycles led to fresh embryo transfer - with 3.6% transferred from one or two frozen-thawed unaffected embryos - resulting in 42 pregnancies in 40 women. Pregnancy rates were 41.4% per fresh embryo transfer and 23.1% per frozen. The overall pregnancy rate was 29%.

The series also included three cases of PGD on embryos previously cryopreserved for fertility preservation prior to chemotherapy, and these too resulted in two ongoing pregnancies.

Two female BRCA1 carriers were diagnosed with breast cancer within three months of the PGD treatment, despite breast screening shortly before treatment. One had a history of breast cancer, the other patient hadn't. The former patient went on to have healthy twins three years after the second breast surgery and chemotherapy, and following frozen/thawed embryo transfer.

So far, PGD for BRCA1 and BRCA2 gene mutations has been considered controversial. While most PGD procedures are indicated to remove completely the risk of inherited sex-linked and single-gene diseases (such as cystic fibrosis) in the children of affected couples, PGD for the breast cancer mutations cannot remove the risk completely - because the 10% background risk of breast cancer remains, even after PGD. Moreover, breast and ovarian cancers are usually of late onset, with prevention and therapeutic options constantly improving - so the chances of successful treatment, and many years of healthy life, are high.

Nor is breast cancer inevitable for a woman (or man) carrying a BRCA1/2 mutation. The controversy thus rests on the fact that a mutation in the BRCA genes increases susceptibility to breast or ovarian cancer, but does not reflect an inevitability for developing the diseases. However, with female carriers of a mutation in either gene having a lifetime risk of 60-80% for breast cancer, and a risk of 30-60% (BRCA1) or 5-20% (BRCA2) for ovarian cancer, many authorities have recognised the gravity of the risk and accepted a BRCA gene mutation as an indication for PGD.

So far, only five pregnancies after PGD for BRCA1/2 have been reported since the first was described in 2008.(1) The slow uptake reflects not just the controversial nature of the procedure, but also concerns over patient selection and the safety of hormonal stimulation for IVF in women at risk themselves of breast and ovarian cancers.

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The prevention of hereditary breast and ovarian cancer by PGD is 'feasible'

By Laura Pullman

PUBLISHED: 14:40 EST, 30 June 2012 | UPDATED: 03:20 EST, 1 July 2012

With a ferocious heat wave sweeping across the nation, millions of Americans are taking extra measures to keep cool.

But one St Louis family have to go even further to protect themselves from the scorching sun as they have a rare condition which means they physically cannot sweat.

Virginia Higgins and her four-year-old son Zane both have a form of ectodermal dysplasias, a genetic condition that affects sweat glands and causes defects in hair, nails and teeth.

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Keeping it cool: Virginia Higgins and her 4year-old son Zane, right, both have a form of ectodermal dysplasias which stops their ability to sweat, meaning they need to be extra careful in hot weather

Extra careful: Zane's parents use ice blankets and jackets to make sure the 4-year-old doesn't overheat when playing outside; he is pictured here with his dad Brian

Diagnosed with the condition as a child, Ms Higgins has become an expert in forward planning for the hot weather.

The ectodermal dysplasias are inherited disorders that involve defects in the hair, nails, sweat glands and teeth.

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Keeping it cool! Mom and son, 4, who cannot sweat during holiday heatwave because of rare genetic condition

28-06-2012 04:23 I also posted a text version of my article on sacns! The Daily Telegraph is reporting on an amazing achievement... a vaccine, which causes nicotine to have no effect whatsoever... on mice. Nicotine calms a person, and causes a slowing in heartbeat. These positive effects of smoking, are something the scientists, think... need to end. So... How does it work? Genetic Engineering... yes, I said it... Genetically Modified (GM) antibody... as a cure. The anti-body filters nicotine out of the blood, and after it appears once, the bodies... of the mice, mimic it. Such means: no more pleasure from smoking. It is suggested that, soon they may graduate from Mice to Men. But if you are a mouse or a man... the best laid schemes and plans of either... to quit, might determine if one is a mouse or a man... There is still the emotional addiction to deal with, if the process works, and any side affects, as yet unspoken. For more on what professor of Genetic Medicine, Dr Ronald Crystal, Weill Cornell Medical College, New York, has to say to the Daily Telegraph: A jab that 'vaccinates' people against smoking for life being developed - Telegraph » Scientists have invented a jab that takes the pleasure out of smoking, it has emerged. 'A jab that 'vaccinates' people against smoking for life being developed; Scientists have invented a jab that takes the pleasure out of smoking, it has emerged.' by Richard Alleyne at 7:51AM BST 28 Jun 2012 www ...

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Scientists invent cure to smoking... - Video

Latest Prevention & Wellness News

Doctors May One Day Harness the Immune System to Help People Quit Smoking

By Brenda Goodman, MA WebMD Health News

Reviewed by Louise Chang, MD

June 27, 2012 -- Scientists say they've developed a vaccine that may one day protect people against the addictive effects of nicotine -- but for now they have to settle for some success in mice.

The vaccine uses the shell of a harmless virus that, much like the Trojan horse, carries into cells genetic instructions for making an antibody against nicotine. When cells are "infected" by the virus, they get tricked into churning out a protein that blocks nicotine's biological effects.

"It's sort of like having Pac-Man floating around in the blood. [The antibodies] bind to the nicotine and prevent it from reaching its receptors in the brain," says Ronald G. Crystal, MD, chairman and professor of genetic medicine at Weill Cornell Medical College in New York City.

Researchers have tried to vaccinate people against nicotine before -- by directly injecting antibodies into the blood. The problem is that the antibodies disappear after only a few weeks, and the studies ultimately had disappointing results.

This time, researchers say they may have found a way to get the body to keep making more.

In a study published in the journal Science Translational Medicine, Crystal and colleagues at Scripps Research Institute in La Jolla, Calif., described how they were able to successfully vaccinate mice against nicotine.

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Vaccine May Block the Effect of Nicotine

28-06-2012 02:51 Luke is an eighteen-year-old medical marijuana patient in California. He has been suffering from a rare genetic skin disorder his whole life that causes his skin can to blister and tear with just slight contact. He is required to have hand and throat surgery every few years in order to live more comfortably. At age sixteen, Luke first tried medical marijuana to help aid his symptoms. These symptoms include pain, night terrors, loss of appetite, insomnia, and isolation. Since then, Luke has seen improvements in all areas. Because of their higher potency, Luke has found that medical marijuana concentrates help him sleep better. He discovered the G-Pen personal vaporizer for it's ease of use compared to traditional methods of ingestion. Luke has now taken his crusade for the legalization of medical marijuana to new heights as he visits with the WeedMaps team to get the message out. Please take a moment and listen to Luke tell you his story of bravery and achievement over all odds. His story will inspire you. The G Pen - Vaporizer Pen

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My Life. My Medicine. - Luke's Story - Video