What the F*&^

After reading Hsien's recent post, I am convinced how very much the UK needs a Sherpa. Listen to what is going on in Great Britain from Eye On DNA.

"The UK Human Fertilisation and Embryology Authority has approved the use of preimplantation genetic diagnosis (PGD) to select embryos free of the gene for early-onset Alzheimer’s disease (AD). The couple who applied has a family history of the disease on the man’s side. His mother, grandmother, and two uncles all died from early-onset Alzheimer’s."

Human Genetics Alert has been fighting the good Sherpa fight for years. The problem....the UK is still approving these techniques. I hate to tell all of you, but this is what is coming. Why scan a genome? Why do lightspeed sequencing when you have time to wait? Why? The answer is simple. To rapidly screen blastocysts to rule in or rule out suitability for implantation. I have spoken about Reproductive, Endocrine and Infertility Specialists penchant for not caring about epigenetic implications

Future Pundit talks about the role of Preimplantation Genetic Diagnosis and its ever expanding uses. The specter of looks and intelligence for PGD rears its ugly head. Do I think this is a slippery slope, you bet. Especially when at the REI conference this April there were comments such as "We are the new geneticists" and "We determine mankind's fate" were heard by my Specialist friend. Yikes here comes Aldous........

Let's face it they have yet to standardize the medium in which embryos grow. Has anyone done a solid analysis of the alteration methylation patterns that emerge while growing embryos in different media? Wouldn't it be crazy if these PGD children had some increased risk for cancer? It could happen. This is why you can't perform PGD for mildly increased risk. Why do we call a woman greater than 35 Advanced Maternal Age(AMA)? Simple, because that was the age at which the risk of miscarriage from Amnio equalled the risk of having a child with chromosomal anomaly. Now that the risk is decreased to 1 in 400 will this change AMA? So here's the question now.

Is the risk of having an epigenetic change in your genome predisposing you for cancer etc EQUAL to the risk of disease from polymoprhism in the embryo?

The Sherpa Says: Risk = Benefit is what physicians should always think about. Just because we don't know the risk DOES NOT MEAN THERE IS NO RISK!

Vineyards and Longevity?

A friend of mine told me that she was on a wine tour and went to a Vineyard called Chamard. While there she was given a brochure.....The brochure contained information regarding the Methusaleh Project. It turns out that the vineyard was recently bought by Dr Rothberg.

I found this an interesting place to recruit for the study. True, the elderly have imbibed, and those visiting vineyards often are retired. So perhaps this is an adequate place for sampling.

I just wanted to mention the Methusaleh project again. Personally I think this is an intriguing idea. I have examined Nir Barzilai's project as well.

Imagine...go to a vineyard, get a cheek swab.

Longevity Genetics....What's Old is New!

Today in the news there are reports of Dr. Jonathan Rothberg's plans to extract DNA from the saliva of 100 people over the age of 95. It was also posted on back in July on ABC. I would just like to bring attention to it again and compare this with the work that has already been done by one scientist.

The idea is to study those who have lived a long time. Perhaps there is something in their make up which keeps them alive despite the stressors which all of us face. This is nothing new. Nir Barzilai at Albert Einstein College of Medicine has been doing this for years. I have been at several of his lectures. There is a nice video on SAGE Crossroads about what he is and has done.

Rothberg's project is aptly named the Methselah Project after the famed biblical man who live to be 969 years of age. This is not to be confused with the "rock band" or the biblical revival (hits one and two on my google search)

What will he find. Well let's examine what Nir found. Of the findings, notable were the polymorphisms on cholesterol genes including homozygosity for the -641C allele in the APOC3 promoter as well as a markedly higher frequency of a functional CETP variant that led to increased particle sizes of HDL and LDL and thus a better health performance are some of the first examples of a phenotype and an associated genotype in humans with exceptional longevity.

The CETP example is interesting simply because of a drug that was recently pulled from trials. It was called Torcetrapib. It was designed to boost the levels of HDL by blocking the function of Cholesterol Ester Transfer Protein (CETP). The problem? Increased blood pressure, then stroke and heart attack. When they released data showing increased BP it didn't take a rocket scientist to figure that there would be increased heart attack and stroke. But they continued the trials despite this until finally the data implicated Torcetrapib in increased risk of stroke and MI.

What will Dr Jonathan's project show. Hopefully some of the same linkages. Will we "Cure" aging by figuring out these markers? Well Hsien posts on this topic over at Eye on DNA. I would be interested in what my readers and fellow bloggers have to say. Send me an email.

The Sherpa Says: Longevity genetics is a lot like nutrigenomics......As Dr Ordovas says regarding diet and genes "It is like looking through the keyhole of a door." The relationships are truly complicated and it will take a while till we can recommend measures to prevent Aging. Oh the horrors of this dreaded disease! The Buddha would say differently and so would the Sherpa.