Thursday, August 30, 2007

Clinical Utility? Now all you doubters look foolish!

I just wanted to let everyone know again about the website for coumadin dosing according to genotype. This algorithm is available on the web at

This algorithm is going to be published tomorrow in the journal Blood.

For all you hater Internists and Clinicians who refused to learn genetics or maybe never had genetics......Welcome to the 21st Century, Read the name tag. You're in my world now Grandma!

Tip60 tips off breast cancer aggresiveness

According to a study published today in the journal Nature shows that a gene called Tip60 is involved in the development of breast cancer. But more importantly.........reduced expression of Tip60 protein leads to more aggressive tumors. Tip60 is a tumor suppressor gene unlike others.....

Let me explain. Usually you are required to have both copies of a tumor suppressor gene affected to start developing tumors. I feel that this theory along with all things mendelian will start to fade away. Why? Because we are much more complicated that punnet squares. The field of systems biology is growing and we will soon realize that we are a complex interactome, not just autosomal/Xlinked/Ylinked dominant/recessive genes.

So where were we? Well it turns out that this tumor suppressor gene only needs one copy malfunctioning to start enhancing tumor growth

From the Primary Investigator Dr Tim Crook "More aggressive types of breast cancers tend to recur after treatment, spread to other parts of the body and respond less well to chemotherapy. The identification of Tip60's role in breast cancer is a step towards predicting the aggressiveness of the disease and then individualising chemotherapy for women. If we can transfer this knowledge to the clinic, it could have dramatic effects."

From the Study

* Activity of the Tip60 gene was found to be lower in nearly half of all ductal breast cancers studied (21 of 52 cases) and in 17 out of 20 of tumours classed as 'high grade'

* The amount of TIP60 protein was studied in an additional 179 breast cancer samples. In almost three quarters of these (129/179), there was no TIP60 protein present in the cells' nucleus - in healthy cells this is where most of it is located. The proportion of cancers lacking nuclear TIP60 was even higher when they singled-out aggressive cancers and early cancers - suggesting that this is an early event in breast cancer development.

The Sherpa Says: Personalized medicine is coming and in many cases it is already here. This is an example of tumor tissue sampling to analyze outcomes. What is truly needed is a tissue bank that can put phenotype with genotype. Then we can have an excellent expression array analysis combined with phenotypic markers. This is the best way to put together personalized oncology. Trust me it is coming. Soon.....

Wednesday, August 29, 2007

The Sherpa Silenced

I know that it has been a long time since my last post. During this time I have been interviewing geneticists, networking with some major league all stars in the fields of nutrigenomics, personalized medicine and pharmacogenomics. So I ask for all of your forgiveness.

First let me state that it has been a great little breather that has got me re-invigorated to keep up the work of a Gene Sherpa.

Second, let me tell you how great it is to live in an age where the work which giants in the fields of medicine and genetics can now be applied broadly to medicine. But, with that benefit comes the danger of charlatans and hucksters.

This is why we need more Gene Sherpas. I am now putting out a plea to all of those who wish to harness genetics for health and longevity, those who wish to have science behind their clinical decision making, those who have a keen business sense and the ethics to make you shudder when you see what is being sold, those who wish to learn more about the future of genetic and medicine.....please email me and we will collaborate and create wonderful things to protect our patients, friend and families from the onslaught of false claims, dummied up studies and infomercials which will soon spring up all over the place.

Lastly I would like to direct your attention to the Institute of Medicine's (IOM) Report called "Nutrigenomics and Beyond: Informing the Future-Workshop Summary" I have spent a significant amount of my time reviewing it and trying to glean what it spells out.

A little about the IOM. It was establish in 1970 to attract elite physicians and scientists to examine national policies regarding health of the public. It issues statements all the time including those on direct to consumer testing.

The report summarized states that the science is not quite there....In addition there is much hype but also much hope. Dr Fineberg, President of the IOM closes with this statement.

"IS it possible that over time we can identify what ultimately must be the common biological pathways through which all determinants of disease or health must ultimately exercise their effect?.......Is it not possible that nutrition science -bridging as it does, everything from human behaviour, cultural values, all the way through to nutrigenomics and metabolomics and so on--might not be the crossroads for such a grand unification theory for health and disease"

The Sherpa Says: Once again, Nutrigenomics is not ready for prime time, otherwise Dr Fineberg would have said "Nutrition science is the grand unification theory" Another scientist stated that "Nutrigenomics is a in a very fragile paradigm...there are very few success stories" So please, tread lightly when someone sells you a diet based on blood type, body shape, or genetics......

Sunday, August 26, 2007

Send in the Clowns......

The Gene Genie is at Microbiology Bytes this week. The theme is bugs and beyond. It has been 7 genies since my hosting and the topics just keep getting better. I am so impressed by the set of links posted, from evolutionary bacteriology to pharmacogenomics there is a lot in the bottle this go 'round.

I have been moving off topic lately and I promise to start redirecting. I have been guiding your attention towards the business side simply because there are so many shenanigans out there. I firmly believe that the revolution known as personalized medicine will be manipulated, just as the "organic food" wave was. Pretty soon you have everything from organic food to organic car washes.

Perhaps the next move is Procter and Gamble releasing Genomically Targeted Food, personalized just for you. Where will this start? Not in your foods, but in Fido's. I have recently discovered from several sources, including I guy (venutre capitalist) who I bumped into waiting to buy power ball tickets, that there are several food manufacturers working on nutrigenomic cat, dog, and parakeet food!!!

All that glitters isn't gold and all that buy it aren't fools. They can be tremendously smart people that are duped by marketing. I ask that we all take a step back, take inventory and prepare for the avalanche of marketing about to hit the air waves.....From Myriad and Sheryl Crow to Puppy Chow...please don't dismiss Personalized Medicine as more of the same charlatanism. We have something revolutionary, it is a shame if we let the PR, Marketing, and VC fools run us into the ground for a cheap buck or two!

The Sherpa Says: Thanks for reading.....please stick to the trail and we will get there safe and sound, I promise. Oh and BTW, I am still awaiting Salugen's studies and data.

Friday, August 24, 2007

Loaded for Bear

Just wanted to give a shout out to David Hamilton from Venture Beat who wrote about Navigenics a while ago. To me whether 23andMe has a competitor or not does not matter. All that it sounds like is another non-clinical company trying to be clinical..........

From his article

"In other words, Navigenics essentially intends to get people to have their genomes scanned in a rough-and-ready fashion — in other words, they’ll scan your genes with chips that look for single-letter variations in the genetic code, instead of laboriously reading it out letter by letter — and then to match up what they find with the latest information on the diseases to which your genes might predispose you. Navigenics so far seems focused on the question of what your genes might say about disease, whereas 23andMe is apparently also interested in helping people trace their genealogy and creating social networks where they can compare and contrast their genetics."

And my favorite quote: "At the very least, though, it’s clear Navigenics has come loaded for bear. In addition to the blue-chip VC backing......"

The thing my mother always taught me.......the more money you need to market and sell something, the more likely it is that people don't need it........


Check out my colleague Ogan Gurel MD Mphil

I am sitting on the Phone with the good doctor Ogan Gurel. He is an excellent blogger that always never ceases to amaze me with his posts.

From his site

"Ogan is chairman of the Aesis Group which provides consulting services in the life sciences and healthcare sectors to clients that have included biopharma/medtech companies, hospitals & health systems, private equity firms, venture capital groups and hedge funds. As a healthcare technology expert and futurist, he has been a frequent conference speaker worldwide, addressing the issue of emerging technologies and their impact on the future of healthcare with particular focus on convergent medical technologies"

He was interviewed by INTimeTV. It is an excellent example of how we often forget that there is more than genomics is personalized medicine. Let's face each day passes, so do the old technologies in how we treat medicine. Unfortunately, your PMD is not keeping up with these changes. How can they? They are too busy fighting insurance companies in order to get paid. But that's a story for a different day.
The Sherpa Says: The future is here, it just isn't evenly distributed......But Ogan has it all

Wednesday, August 22, 2007

FDA Warnings, Breast Feeding and Codeine

This is something I have been following for over a year now. There were several published reports of mothers taking codeine and their babies having problems.

First, let me explain how that could happen. Codeine is something called a pro-drug. That means Codeine essentially does nothing when taken. It only works by being converted to another substance in the body. In codeine's case, that substance is morphine. That's correct, codeine is really morphine.

So what happens in these new babies is due to the metabolizer status of their mothers. If dear old mom is an ultra-rapid metabolizer of codeine, then there will be higher than usual amounts of morphine in the blood, and in the breast milk.

Recently the FDA issued a warning regarding codeine consumption during breastfeeding.

"Codeine frequently is prescribed to women after giving birth for pain associated with episiotomies or caesarean sections, the Washington Post reports. In addition, codeine is a common ingredient in some forms of Tylenol and nonprescription cough syrups, the Los Angeles Times reports" from medical news today..."According to FDA, about 16% to 28% of people with North African, Ethiopian and Saudi dissent are ultra-rapid metabolizers. Labs usually charge between $500 and $1,000 for a Roche Diagnostics test that can determine how people metabolize several drugs, including codeine"

The Sherpa Says: So does this mean all nursing mothers should be genotyped for polymorphisms in their metabolizing enzymes? Not really. What should be done is 1. Less convoluted pain medications should be given 2. If mothers are taking this drug, then they need to monitor their child for signs of intoxication (slow breathing, sleepiness, failure to feed) 3. Watch the news, you are bound to find more out about personalized medicine there rather than from your MD.

Monday, August 20, 2007

Nice Commercial, Bogus Advertisement.

Has anyone seen a company named Navigenics....Unless I have been sleeping and missed my daily rss feeds searching pubmed for pharmacogenomics, personalized medicine, genomics, and GWAS I feel they are lying.......

They have partnered with Affymetrix and plan to NAVigate GENomICS.

The way the Navigenics process works is that you submit a saliva sample and.......

They present your future!!!

Please take a look at the commercial!

What blew me away was this quote......after a misleading commercial where you think that a simple report, delivered in your email, describing your genome will alter your life......

"Now is the time when people should be getting this information(their genome). The Science is there, The Information is there....and Now Navigenics is there"

Even more disturbing is the fact that this was a quote by Greg Simon JD.....Their Chair for the Policy and ETHICS Task Force. Mr Simon is the president of FasterCures an "actiontank" committed to "saving lives by saving times" Mr Simon was the Chief Domestic Policy Advisor to Al Gore from 1993-1997

I don't think saying "The Science is Here" is an ethical statement. In fact it is misleading. He could mean the science to obtain a genome is here.....which is true......He could mean that the science to hold your genome and store it is here....true again.....but the commercial gives you the feel that the SCIENCE IS HERE TO APPLY THE WHOLE GENOME TO YOUR HEALTH. Especially when the tag line is "My genes....My health....My life....My Guide" Perhaps it depends on what your definition of is is......

The Sherpa Says:

Unless I have been asleep at the wheel, the science to send a report via mail and deliver meaningful contribution to you health care ethically and with some validity is not here. Perhaps Mr Simon missed the Bio 200 class where they talked about evidence based medicine???? Oh wait....there wasn't a lecture on that.....

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.

Friday, August 17, 2007

Good Morning America Versus the MDs

Today on Good Morning America Dr. Tim Johnson spoke about the future of Personalized Medicine. He feels that it is here and now. Take a listen to what he says.

Thursday, August 16, 2007

Wall Street and the FDA Versus MDs???

If you didn't have the chance to read the Wall Street Journal today, then you missed a whopper of an article regarding Pharmacogenomic testing and how it can truly impact outcomes with medications.

The article presented several stories of Warfarin gone Awry. Trust me, I have seen more than my fair share of warfarin bleeding stories. Warfarin was a drug initially used as a rat poison. In fact it was only discovered as an anticoagulant when some depressed soldier tried to kill himself with the poison.

He survived, and so did one of the leading selling medications in the world. Leaving a trail of horror stories. When dosing this medication, there is an old adage that you start low and go slow. But in today's lack of reimbursement, this medication is getting started at higher and higher dosages. Why? Because the hospital only gets paid a certain amount by insurance for your stay. This is based on the diagnosis you give. Therefore, the quicker you leave the hospital, the more money the hospital gets to keep.

Enough about health economics, let's get back to coumadin. If you had read my previous posts regarding this testing, you know that it is safe, reliable, and pretty rapid. In addition, Harvard will soon release data showing the clinical efficacy of dosing according to genotype. This is Personalized Medicine at it's finest.
The Sherpa Says: This warning shot by the FDA is directed at physicians who have been inept at learning and applying genetics. At Helix Health of Connecticut we do just that, and help other physicians to do the same. If MDs don't smarten up, we will have Roche teaching laypeople how to dose adjust their medications. Not exactly my idea of health professionals........ Imagine that topsy turvy world!!!

Wednesday, August 15, 2007

Medicine and Genetics

Today in a bimonthly medical newspaper (where the are sections much like sports/lifestyle but listed by specialty) which has been publishing since 1968 finally announced that they will have a subsection on genetic medicine for internists.

I am here to cheer this paper called "Internal Medicine News" for covering these important topics. Most importantly the beat writers for the section will be Internal Medicine Geneticists. Makes sense? Of course, however most genetics authors in medical weeklies/newspapers are often pediatricians. The problem with this is that most personalized medicine advances are not covered from an internal medicine point of view

Internal Medicine News reaches nearly 119,000 internists and physicians in related specialties twice a month with the clinical news they must have to keep current in patient care. From new drug approvals to the latest clinical trials, Internal Medicine News is there for its readers with timely, balanced coverage. Internists rely on Internal Medicine News for Comprehensive Meeting Coverage, Expert Opinion, Balanced News Coverage, and Reliability

Well, finally we have a voice!

Monday, August 13, 2007

What Good are Books?

I would just like to point all my clinician friends to a wonderful book. Now granted, these days books seem to be outdated prior to print, but this one is very timely. It even has deCODEs shenanigans in it. The Title: Cardiovascular Genetics and Genomics for the Cardiologist is slightly intimidating. But I ask all of my heart doctor friends to please pick up the book. It is written by several cardiologists and geneticists. Its lead editor Victor Dzau MD is Jedi in the field of hypertension and atherosclerosis. Dr Liew PhD is a solid pathobiologist and does a very nice job of compiling the data.

I feel that to catch up in this field will be difficult. The only thing I disagree with in this book is the Foreward written by Dr Peter Agre a noble laureate in 2003. He Says:

"...tomorrow's medical graduates will be well-versed in genetics, and today's practicing physicians will need to be as well........Get ready change is coming, and in many cases it's already here"

I am sad to say Dr. Agre......unless we have some better teachers, tomorrow's medical students will be just as inept at genetics as this year's graduating class, who failed my genetics questionnaire with flying colors.

Friday, August 10, 2007

British Eyes are Smiling........Or Degenerating

This week in the New England Journal of Medicine we have a study from Cambridge. This is a new player in the established Age Related Macular Degeneration risk polymoprhisms.

Age-related macular degeneration(ARMD) is the leading cause of visual impairment in the elderly and the most common cause of blindness in Western countries. It affects the macular region of the retina. The macula has a high density of photoreceptors and provides detailed central vision.

In the early stages of the disease (referred to as age-related maculopathy), deposits develop. Later, the disease is manifested as either extensive atrophy of the retinal machinery. These conditions can lead to a loss of central vision.

The pathogenesis of age-related macular degeneration is poorly understood. As with other late-onset chronic diseases, susceptibility is influenced by age, ethnic background, and a combination of environmental and genetic factors. Smoking status and family history are well-established determinants of risk.

According to the study which evaluated SNPs from the C3 and C5 genes there was a significant association between C3 polymorphism S/F (Arg80Gly) and ARMD in addition the homozygote carrying 2 FF types actually had an Odds Ratio of 2.6 combined for both Scots and English. For the Scots the risk is higher at 2.9 This is where we really see some risk. If this would be published in the media, they would say "New Gene Increases risk by 290%"

The Sherpa Says: Now this study has some teeth. Personally I feel that if we use a Richter Scale to judge studies and findings my Gestalt would be 4 on the PGP Richter Scale!!! Now we need some prevention studies with these linkages. Any Takers? Lastly, I received a message from Salugen. I vow that I will post the data they have. But I also will review the data prior to posting.

Thursday, August 9, 2007

Personalized Medicine....What about Prevention?

A recent study published and talked about everywhere around the web indicates that our lifestyle matters. If we would just follow these five things, we would save thousands of lives.......How will we carry out personalized medicine if we cannot follow simple preventative measures.

Here's what the Partnership for Prevention Suggests:

The biggest impact would be saving 45,000 lives by encouraging more adults to take a daily low dose of aspirin to prevent heart disease, said the report which was sponsored by the US Centers for Disease Control and Prevention, the Robert Wood Johnson Foundation and the WellPoint Foundation.......
Other measures that would save tens of thousands more American lives every year include more adults getting flu shots

  • 45,000 lives saved from more adults taking a daily low dose of aspirin (current take up rate is below 50 per cent).
  • 42,000 more lives saved by offering smokers professional help to quit, including medication (current level is below 28 per cent).
  • 14,000 more lives saved by more adults having regular screening (current level is below 50 per cent).
  • 12,000 more lives saved by more adults aged 50 or over having an annual flu shot (current level is below 37 per cent).
  • Nearly 4,000 more lives saved by increasing the number of women aged 40 or over who have been screened for breast cancer in the last two years (current level is 67 per cent).

What about the potential for genetics to promote public health? Well, Wylie Burke is a little less optimistic than myself.

The Sherpa Says: What would you do if you knew you were at risk? Would you get the flu shot? What about frequent cancer screening? Taking an aspirin? Or even quitting smoking? I hope with the right Sherpa, you would.....

Tuesday, August 7, 2007

American Society of Human Genetics speaks out on DTC testing

After a wonderful conference call with some friends regarding the future of personal genomes, I was heartened to see ASHG put out a statement on Direct To Consumer (DTC) testing. Here is what these learned individuals say.

Currently, DTC genetic testing is permitted in about half the
states2 and is subject to little oversight at the federal level. In July
2006, the Government Accountability Office issued a report documenting
troubling marketing practices by some DTC testing
companies,3 and the Federal Trade Commission (FTC) issued a
consumer alert cautioning consumers to be skeptical about claims
made by some DTC companies

While DTC testing also encompasses paternity and ancestry testing,
this policy statement addresses solely those genetic tests that
make health-related claims or that directly affect health care decision

For a test to be of good quality,
the laboratory performing it must be able to obtain the correct
answer reliably, meaning that it detects a particular genetic variant
when it is present and does not detect the variant when it
is absent. A test’s accuracy is referred to as “analytic validity.”
Further, there must be adequate scientific evidence to support the
correlation between the genetic variant and a particular health
condition or risk—the so-called clinical validity.

Currently, the federal government exercises limited oversight
of the analytic validity of genetic tests and virtually no oversight
of their clinical validity.

Several complaints have been filed and
are pending with the FTC about a specific DTC genetic-testing
company, and the FTC recently issued a consumer alert warning
the public that “some of these [DTC] tests lack scientific validity,
and others provide medical results that are meaningful only in
the context of a full medical evaluation.”

So there in lies the problem. They have several solutions.

I. Transparency
To promote transparency and to permit providers and consumers to
make informed decisions about DTC genetic testing, companies must
provide all relevant information about offered tests in a readily accessible
and understandable manner.

a. Companies offering DTC genetic testing should disclose the
sensitivity, specificity, and predictive value of the test, and the
populations for which this information is known, in a readily
understandable and accessible fashion.

b. Companies offering DTC testing should disclose the strength
of scientific evidence on which any claims of benefit are based,
as well as any limitations to the claimed benefits. For example,
if a disease or condition may be caused by many factors, including
the presence of a particular genetic variant, the company
should disclose that other factors may cause the condition
and that absence of the variant does not mean the
patient is not at risk for the disease.

c. Companies offering DTC testing should clearly disclose all risks
associated with testing, including psychological risks and risks
to family members.

d. Companies offering DTC testing should disclose the CLIA
certification status of the laboratory performing the genetic

e. Companies offering DTC testing should maintain the privacy
of all genetic information and disclose their privacy policies,
including whether they comply with HIPAA.

f. Companies offering DTC testing and making lifestyle, nutritional,
pharmacologic, or other treatment recommendations
on the basis of the results of those tests should disclose the
clinical evidence for and against the efficacy of such interventions,
with respect to those specific recommendations
and indications.

The Sherpa Says:

I am still waiting for the data from Salugen/Luxor...........hmmm I wonder why? Wake up people, this field is filled with snake oil salesmen!!!!

Sunday, August 5, 2007

TCF7L2 Strikes again, This time it's the Finns

The Latest edition of Mendel's Garden is up at Scienceroll. If you haven't seen it, the Gregorian Rap All-Stars video is a must see!

It's official. I can say without any doubt that the gene TCF7L2 is somehow implicated in diabetes. Another whole genome association study was performed and results were published in the American Journal of Human Genetics.

The study which performed because there only exist a handful of genes that have been implicated in the genetics of diabetes. These include PPAR gamma, TCF7L2, KCNJ11, CPN10, FTO. And because GWAS is hot now. They selected 4 populations, all Caucasian. 200 Finns with diabetes and 200 without, similar numbers of Ashkenazi Jews, 100 soccer hooligans from Manchester and 99 affected Brits, as well as 100 Germans with diabetes and another 100 without.

What they found was not surprising. TCF7L2 SNPs rs7903146, rs7901695 and rs122255372 were all replicated as linked again with ORs of 1.6-1.7. They also found several candidate loci. None which were that impressive when attempted to be replicated.

So, what does this all mean? Well it means that there is an increased risk for diabetes if you have any of the aforementioned changes in your TCF7L2 gene. But how does that help us? Now that it is shown to be linked, we need some data on how to prevent diabetes in the carriers of altered TCF7L2.

Does anyone have good data on this?
The Sherpa Says: Sometimes I do eat humble pie. That being said, I will not recommend TCF7L2 testing for anyone. Importantly because there are several SNPs associated, not just the SNP that deCode tests for. There is more to this diabetes story than meets the eye.

Thursday, August 2, 2007

The SaluGen response

I wanted to highlight what goes on in my comments section daily. I know that these comments don't often show up on the blog and you frequently have to click them to investigate.

I recently posted on something I feel that is not ready for prime time medicine. This doesn't mean you can't spend a fortune on it to make you feel good. People can even buy and drink tons of alcohol to feel good. Not particularly useful for your health...But it can make you feel good.

From one of my respected readers,

Dear Steve -

This is just not a fair statement. I really enjoy your blog and have commented previously (see link -

But to suggest that Salugen is "snake oil company" and that SpaGen is some scheme is just untrue. I would be happy to provide you with greater detail on our Company and on one of our products, SpaGen.

So you know, Salugen is a personalized health and wellness company that leverages our thirty years of research in genetics published in over 350 scientific publications to deliver DNA-customized nutritional solutions based upon patent protected genetic tests.

Obviously a blog is not the best vehicle for disseminating comprehensive information, but let me share with you a few quick facts:

1) The SpaGen survey assessment which looks at health, diet, lifestyle, and Rx interactions/depletions related to nutrients has passed due diligence with the nation's largest PBM which is planning on using it for their own employee base.

2) The SpaGen DNA test is performed in a high-complexity, CLIA-certified laboratory which has been around for over 12 years. Hardly a fly-by-night snake oil company.

3) Our Chief Scientific Officer, Dr. Kenneth Blum, leads our research and development effort and studies to support what we do have been published in JAMA, Nature, Science, Lancet, etc. (hardly discredited rags)

4) Our nutritional supplements are manufactured in facilities that are either licensed by the FDA for pharmaceutical manufacturing or exceed those standards.

So, I would ask that before you rush to judgement about what we do, please take the time to be as thorough as you are in other areas of your blog. I would be happy to elucidate more on how we genotype and customize nutrients.

For example, based upon the MTHFR C677T mutation involved in the metabolism of folate, ultimately converting it into 5-methyl tetrahydrolate folate which is an enzyme that converts homocysteine into methionine, there is a published, randomized, double-blinded placebo-controlled study to demonstrate that by giving a tailored amount of folate (3x the recommended dietary intake) that you can reduce the risk for the nation's largest cause of death by 2.4 times. Not to shabby, eh?

Talk to you soon,
Brian Meshkin(from Salugen)

The Sherpa Said:
August 1, 2007 9:19 PM
Steve Murphy MD said...

I ask that you forward me your researchers' abstracts and data on supplementation and disease prevention as well as their published data on genetic polymorphisms and their role in nutritional inadequacy. I would also love to see the journal citations of replication studies carried out by your team. I will happily review these and make an evidence based commentary after I receive these. I don't make rash statements unless I have done some due diligence. Nutrigenomics is in its infancy. We are not talking about the perfect being the enemy of the good. We still don't even know who the enemy is. As for the homcysteine, there was an article in the NEJM which actually showed increased risk with viatmin supplementation to lower homocysteine.

Take Care and Thank You



The jury is still out on Homocysteine lowering and reduction of cardiovascular risks. Even Nutritional Journals acknowledge that.

Wednesday, August 1, 2007

Another Quack Moment!

This was a recent Press Release from Luxor that I came across.

Salugen, Inc. (, a leading personalized health and wellness company (Read as A rip you off fly by night snake oil company), announced today that its personalized nutritional support program (Read as a Money shakedown for bogus science) for the world's leading spas and their guests -- SpaGen ( is now available at the Nurture Spa at Luxor (

Where do these press releases come from? Let the buyer beware. Because this VIP deal stands for Very Immediate Profits!!!!


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.