Category Archives: Genetic Medicine

BAR HARBOR Advances in genetic medicine are proceeding at such a rapid clip that solutions to some of humanitys most intractable medical problems could be present within the decade, Jackson Laboratory President and CEO Edison Liu, M.D. said Monday. Dr. Liu was speaking before a crowd of 150 gathered at the Bar Harbor Club for the annual meeting of the Mount Desert Island Hospital.

If we can push the envelope, we will cure cancer by the year 2020, Dr. Liu said in his keynote address. If Jackson Lab, on the little island on MDI, can win the Nobel Prize, we can beat breast cancer.

Advances in technology and in knowledge of the human genome have risen so much in the past decade that what we imagined just a few years ago is now reality, Dr. Liu said.

Today, we have high-resolution understanding of your genetics and your genome. We dont have to guess anymore, he said. We havent seen anything like this since the development of the motherboard in electronics.

In typical cancer treatment, a 30 percent response rate is considered a good outcome. But, with the growing ability to tailor drugs to each individual, the field of personalized medicine now promises the ability to increase that rate greatly, if not eliminate mortality from the disease altogether.

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Cancer Cure Close, Liu Says

In case you have been wondering where the Sherpa has been. Have a read.

I have been following the DTCG and FDA closely and it appears, my theory and logic is correct!


23andSerge has decided to stop being silly and stop fighting "The Man" Instead they kiss the ring and FINALLY acknowledge what I have said over and over again. If you are testing for medical conditions, if you are doing medical tests, you must be regulated as such.


Despite this, Anne W and 23andSerge fought for years. "It's research" "It's for fun" "It's not medical"
Further, 23andSerge's move proves the "brilliant" Thomas Goetz dead wrong and me, the little "ol Sherpa, spot on correct.


23andSerge will be asking for FDA approval of their medical device known as the 23andMe test.


Why does a service like this need FDA oversight? Because it is a medical device. Simple enough. Also, oversight is needed for this service as they cannot be trusted to police themselves.


Further, with inaccurate information, the FDA will have a very close look at what 23andSerge is offering.


IMHO, this move by 23andSerge is exactly what is needed to prove to all the skeptics wrong. 23andMe is doing medical testing and needs to be regulated as such. END OF STORY.


The Sherpa Says: I hate to say I told you so. But, I did. Just like I warned the guys at Pathway not to launch DTC via a major retailer. They did 2 weeks later and then got shut down. 

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04-07-2012 07:50 Conference by Fyodor Kondrashov, ICREA Research Professor, leader of the laboratory Evolutionary Genomics, within the Bioinformatics & Genomics research programme, at the Centre for Genomic Regulation, in Barcelona, Spain. In this talk he discusses the work that his lab does and the role of bioinformatics in the study of disease-causing mutations in humans. The study of the genome through sequencing produces an enormous quantity of data. This data is analysed by bioinformatics researchers dedicated to the management and analysis of all of the information obtained when a genome is sequenced via, for example, mathematical, biological, computer and statistical tools. Personalised medicine is based on the premise that if a disease is caused by a mutation of a patient's genome, this mutation will always produce the same effect in another person: the effect is stable and constant, independently of whom the individual might be. However, recent research suggests that this effect may depend on the combination with other mutations. In some cases, it can be demonstrated that two "bad" mutations could combine to produce a perfectly healthy person, meaning that in the world of genetics, two "negatives" sometimes make a "positive". It is also likely that some mutations which cause disease may be benign if combined with other genetic changes, although this phenomenon has not yet been observed in humans. This is discouraging for personalised medicine, as the study of mutation interaction ...

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Genome complexity and medicine: illness prediction gets complicated - Video

02-07-2012 14:16 This is the VOA Special English Agriculture Report, from | http Scientists have made a genetic map of the tomato. Tomatoes are second only to potatoes as the world's most valuable vegetable crop. Eight years of work went into making the map, or genome. Three hundred scientists around the world took part in the project to sequence the tomato's DNA code. Giovanni Giuliano, a researcher in Italy, is part of the Tomato Genome Consortium. He says they started as ten countries and now have fourteen. Having the tomato's genetic map will help growers who are always trying to produce a better tomato. Mr. Giuliano says they now know not only what genes are there, but their order. Researchers published the genome of a tomato used by Heinz, the American food company famous for its tomato ketchup. Ketchup is a thick sauce used on hamburgers, hot dogs and other foods. Heinz's research manager, Rich Ozminkowski, says the company knows what it wants in a tomato. "Traits like sugars and, for Heinz, viscosity, or the juice thickness, and the redness of the tomatoes are all very critical traits for us," he says. Those are all controlled by a lot of different genes within the tomato. Mr. Ozminkowski says genome sequencing takes away much of the guesswork for breeders of tomatoes or other crops that have been mapped. In his words, "By having the genome information, we can pick out those tomato plants that have more of those genes." Until the late nineteen sixties, the ...

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Tomato's Genetic Secrets Are Peeled Away - Video

Imagine a lotion that can treat irreversible genetic skin diseases like psoriasis or life-threatening skin cancers like melanoma. Researchers at Northwestern University say they're another step closer to creating a treatment that will naturally slip through the skin and genetically alter cells to treat a particular skin disease.

Using creams and lotions to target a particular problem area is seen as a great advantage among many dermatologists in treating a localized skin problem.

"We like to treat skin diseases with topical creams so that we avoid side effects from treatments taken by mouth or injected," said Dr. Amy Paller, chair of dermatology and professor of pediatrics at Northwestern University Feinberg School of Medicine.

But the difficulty among researchers has been creating a gene-altering topical agent that can successfully penetrate the skin to specifically treat genetic skin diseases.

"The problem is that our skin is a formidable barrier," Paller said. "Genetic material can't get through the skin through regular means."

Using nanotechnology, the researchers packaged gene-altering structures on top of tiny particles of gold designed to target epidermal growth factor receptor, a genetic marker associated with many types of skin cancers. The structure is designed to sneak through the skin and latch onto targets underneath without eliciting an immune response.

The researchers mixed the structure into the ointment Aquaphor, which is commonly used among many patients who have dry skin or irritation.

The researchers then rubbed the ointment onto the mice and onto human skin tissue and saw the gene-altering structure in the lotion successfully penetrated the skin and was able to shut down the potentially cancer-causing protein, according to the findings published Monday in the journal Proceedings of the National Academy of Sciences.

The preliminary study is regarded as the first to deliver topical gene therapy effectively with no toxic effects.

Topical steroids are the most commonly used cream-based treatment for skin problems such as psoriasis. While they can treat inflammation or other effects of a skin disease, they do not treat the underlying mechanism that's causing the problem, Paller said. And in cases like melanoma, the diseased cells are often surgically removed from the skin, leaving scarring.

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Lotion May Treat Skin Diseases

Newswise 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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Moffitt Cancer Center Study Validates Activity of Rare Genetic Variant in Glioma