In Defense of 23andMe.com – why knowing your genome is important

Up until November of 2013 the controversial 23andM.com website offered people the opportunity to get genomic insights to their past and their possible future – at least their future vulnerabilities.  After 2 years of back and forth communication wherein it seems 23andMe was trying (unsuccessfully) to convince the FDA that people had the right to genomic information the FDA issued a cease and desist order and now 23andMe states this on their homepage: “23andMe provides ancestry-related genetic reports and uninterpreted raw genetic data. We no longer offer our health-related genetic reports.” 

The price of the testing dropped dramatically and is now only $99 for a salivary genomic test.  The problem is that unless you actually care what percentage of your ancestral DNA comes from what continent or how much residual Neanderthal your parents contributed to you, the raw data is merely a huge outpouring of A,T,C G data (nucleic acid pairs) which even a competent geneticist would find daunting without the aid of serious computer databases.  But therein lies its wonder – we do have access to amazing databases which offer us glimpses into the rapidly expanding arena of medical genomics and personalized health care. 

Enter in a support industry growing up around 23andMe like livewello, which offers an app for downloading all those ATCG codes and converting them to more easily understood labels, like MTHFR – a gene with common single nucleotide substitutions which may result in dramatic reductions in its enzyme’s ability to methylate folate (a completely treatable genetic risk factor for heart disease, certain cancers and autism). 

 

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The livewello gene app for 23andMe only costs $15 and equally they do not provide you with any specific health recommendations or interpretations.  But they do add a filter which makes it easier to identify the genes on the OMIM website.  OMIM is part of the the US National Library of Medicine and it is an invaluable tool. 

However, there is a catch. 23andMe and livewello (or any of the other gene apps) only identify SNPs and do not adequately look at copy variances and deletions. Still there is useful information, which in knowledgeable hands can give helpful information.

In the near future, (like after Autism One and IMFAR) I will write up an interpretation guide for the primary genes I find helpful and with that I hope to further all of our understanding of the emerging field of personal genomics.  Remember – knowledge is power – what you do with that power can change your life in important ways through the use of informed choices. 

Clinical Trial on the Use of a Unique Form of Transcranial Magnetic Stimulation – MRT for the Treatment of Autism is Nearing Completion – Results to be Presented at Autism One 2014 in Chicago.

Clinical trial NCT01985308 (details available at www.clinicaltrials.gov) or directly at http://www.clinicaltrials.gov/ct2/show/NCT01985308?term=bradstreet&rank=1 is in its final stages of completion.  The preliminary results of the study will be presented during the Autism One conference upcoming in Chicago in May ( http://www.autismone.org/content/2014-autismone-conference ). MRT uses powerful magnetic pulses to stimulate the brain is unique ways.  The outcomes from the early use of MRTwere recently presented by Prof. Yi Jin, the developer of this type of therapy at the annual AANS meeting.

 

I’ve had the pleasure of working the Brain Treatment Center team including various technicians Prof Jin and his sister Dr. Toni JIn for the past several months on this project. The study has been arduous and Toni has put in some amazingly long hours to help the parents, the children and me with this complex area of research.

The study recruited 28 subjects with autism ages 4-12 and entered them into a 12 week program.  The treatment required frequent EEG testing and examinations. The magnetic (MRT) portion was based on the EEG findings and uniquely tailored for each patient by the assessments of individuals neurophysics (electronic signature of the brain).  The study had/has two arms with each group being randomly assigned to either 5 weeks of sham and then 5 weeks of treatment and the other group getting 10 continuous weeks of treatment. Everyone remained blinded and the seal on the numerical codes will not be broken until the end of the study.

I hope you join Drs Jin and myself at Autism One for a look at the use of MRT for autism.  For more information about MRT you may visit http://vimeo.com/braintreatmentcenter/videos and if this is something you feel may apply to your child you may contact my office for a consultation.  MRT, a form of TMS, is only available by prescription and requires the supervision of a physician. The FDA has approved TMS for the treatment of refractory depression. It is not approved for the treatment of other disorders including autism and its use is considered an off-label application of the technology which is permitted in the US. Additional research is expected to start in the next 12 months at UCSD regarding its use in autism.

International Interest in Stem Cell Therapies for Autism Continues to Grow Amidst Ongoing Controversies

I am pleased to announce today’s publication in the World Journal of Stem Cells of our review of Mesenchymal Stem Cells (MSCs) for the treatment of autism.  Our team representing Italy, the US and Ukraine, reviewed the evidence and present understandings of this important class of stem cells and what we know about its potential and rationale for autism therapeutics. We also discuss various struggles, including regulatory restrictions in various countries, for the present application of the MSCs to autism treatment. Here in the US I routinely extract adipose derived stems cells (mostly MSCs) for the treatment of arthritis – primarily knee joint degenerative disease. This is a relatively simple application of stem cell therapeutics and I am about to publish our initial outcomes from this.  I DO NOT HOWEVER TREAT AUTISM WITH STEM CELLS HERE IN THE US. I use EmCell in Ukraine for advanced autism related cell interventions.  Together with the EmCell team, I have submitted our outcomes in the autism population for publication and it should be available soon in print. If after reading this article – via the link below – you are interested in stem cell therapies, you may contact my office to set a time for consultation.

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The Link to the Public and Freely available article is here: http://www.wjgnet.com/1948-0210/pdf/v6/i2/173.pdf

The Autism Nexus: New Discovery of a Link Between the Gut Microbiome, the Immune System, Brain Dysfunction and Vitamin D and Vitamin D Binding Protein (GcMAF)

I am very proud of our recent work published in the highly regarded Journal of Inflammation.  http://www.jneuroinflammation.com/content/11/1/78  By clicking on the hyperlink you browser should take you straight to the article which is available for no cost at the journal’s website. Once you are there click on the pdf button (the yellow arrow shows you where to click once you get to the article on the web).  Before you jump to article page let me explain in easier language why this article is so important. It is the first article any of us as authors have written that was accepted without any critique or changes, which means the reviewers thought very highly of it. While that is important, it is only part of the significance of our findings.  It has always bothered me that minor changes on the gut bacteria and yeast (microbiome) could result in wild and crazy changes in a child’s behaviors. While that observation is common among those of us treating the biology of autism, it was actually very difficult to understand mechanistically at the level of the child’s biology, at least until now.

We believe we have uncovered the nexus (intersection) of the observations regarding Vitamin D deficiency, GcMAF observed improvements in behavior, see: http://www.la-press.com/initial-observations-of-elevated-alpha-n-acetylgalactosaminidase-activ-article-a3450 , immune dysregulation, brain inflammatory changes (mostly in microglial regulation), and the microbiome.  Briefly, the endocannabinoid system is part of the cell systems that regulate the immune system and the brain. In particular, it seems the CB2R (cannabinoid 2 receptor) reads the background environment of the individual (diet, microbiome, etc) and sets the tone of the immune defenses.  Last year we published the first observations of CB2 dysfunction in autism (J Autism Dev Disord. 2013 Nov;43(11):2686-95. doi: 10.1007/s10803-013-1824-9.). With this follow on work it seems likely that the endocannabinoid system is at the center of the complex biomedical disruptions underpinning the autism epidemic we are observing.  Now for your homework. Go the Journal of Neuroinflammation website and get the entire article. After you read it you can ask you questions. (use the link provided in the first paragraph).

 

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CDC data show continued rise in autism spectrum prevalence for Autism Awareness month

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You can download the entire article and go over the statistics for yourself but here are a few of the outstanding observations these data offer us.

1) The ADDM site prevalence has risen to 2.38% of boys and 0.5% of girls, although in figure 4 of the report it goes as high as 2.75% of boys.

2) The median age of diagnosis of autism was 53 months (4 years 5 months).

3) The disorder is diagnosed more frequently in the white non-Hispanic population

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You won’t be able to read this chart on your mobile phone very easily, but the data are certainly terrible for our children.

As a background in statistics, 10 case per 1000 in prevalence equals 1%, so the prevalence for both boys and girls combined in the sum of the ADDM areas was: White non-Hispanic 1.58%, Black 1.23%, Asian 1.23%, Hispanic 1.08%.  The overall ratio of boys to girls was 4.76 to 1.

Based on the available scientific literature it is difficult to explain the nearly 5 fold increased risk of ASD observed in the make population. The simplistic observation would be to look at the Y (male) and X (female) chromosomes and see what is happening there.  Very few autism risk factor genes have been identified on either chromosome apart from fragile X which accounts for only a small percentage of ASD cases. This implies some epigenetic (gene-environment) interaction wherein males show more vulnerability than the females. Finding these factors has been elusive, but a new study may give us some clues.

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The American Journal of Human Genetics. 94, 415–425, March 6, 2014

This is a complex study, but the apparent observation is that females have significantly higher numbers of small copy-number variants (CNVs) in the DNA (more mutations) but have less risk of autism – meaning being female somehow lends protection to the gene variations and implies males are more sensitive to genetic variations.  As with previous studies these factors are NOT occurring on the sex chromosomes, but rather on the other chromosomes.  They also observed higher levels of neurodevelopmental risk factor genes in the mothers compared to the fathers of the children with ASD, which was again consistent with the view that females tolerate a higher burden of CNVs than males.

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The odds ratio of having a neurodevelopmental associated gene CNV was 3 times higher for females than males (15% compared to 5%). However, only 308 of 4482 males (6.87%) tested in this study actually had CNVs detected.  So even this study fails to explain on a genetic basis the genetic risks of autism for the majority of cases.

This leaves us still searching for the combination of genes and environmental factors triggering this incredible and frightening rise in ASD observed in the most recent CDC study. I will be presenting more on this at Autism One in Chicago this year.

Bravo Probiotic – Actually a System for Making a New Ecosystem NOT Merely a Probiotic

One of the frustrating things in dealing with most chronic illnesses is related to the gut ecosystem. TV ads are now extolling the issues of a bad gut ecosystem so the message about gut flora (the protective bacteria of the intestinal track) is getting much more widely accepted. The challenges I have experienced with many patients, however, makes this far more complex than merely popping a few probiotic capsules.

In previous blogs I have written about fecal transplantation or fecal bacteriotherapy (FBT). Recently the FDA warned doctors to not attempt this without FDA approval making it all but impossible these days.  It has been a successful means of changing out a bad ecosystem in the got for a better one and in cases of life-threatening infectious diarrhea it has been published in the medical literature to be life-saving.

But given the impracticality and regulatory barriers, FBT is not a viable option. So what can we do? My choice is now Bravo and you can find it on the web at www.bravoprobiotic.com. Bravo is a complex multistrain bacterial fermentation process; it is not merely a probiotic and technically it is a fermented dairy product you make in your kitchen by using their system and culture blends.  And if you have been around natural health very long you know most dairy is an issue for children with autism and many other health issues.  However, tests on Bravo at a major university indicate it does not contain casein and other milk proteins after the bacteria digest the milk in the process of fermentation. In my population of sensitive children it has been very well tolerated.

After answering hundreds of emails about Bravo I decided it may be easier to just post this information with detailed pictures of how I make it for myself.

Bravo Maker

You will need a yogurt maker and I chose this one which I ordered from the internet for about $40 US.  I also ordered extra jars because the standard volumes of yogurt suggested in the instructions yields more than the 7 jars will hold.

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Extra jars for the yogurt maker I purchased.  You can get any yogurt maker you like – although Bravo suggests you use one with an automatic shut off.

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I suggest you read the instructions all the way through at least once prior to starting the process and make sure you have all the suggested materials you need.  For me it meant a trip to Target to get a thermometer and a medium metal strainer and a other items like glass jars and special sized cooking pot for boiling the milk. The instructions give you a list of all the material you will need. The instructions talk about a smidgen as a unit of measure.  Technically that is 1/32 of a teaspoon and before you get worried the Bravo starter kit includes a smidgen measuring spoon which you can see on the plate next the to ladle spoon.

The US still uses the Imperial measuring system so for many of you the metric units in the instructions require conversion.  So her are a few tips: 1 liter = approximately 4.23 cups.  The instructions ask you to boil 2.5 litters of milk so that is 10.5 cups (actually a bit more so like 10.6) and there are 16 cups to a gallon so that is more than a 1/2 gallon of milk.  I recommend you use a non-homogenized milk but Bravo instructions don’t mind but they want the full fat milk (whole).  I also suggest you use organic milk. You can use cow or goat or sheep but you cannot use non-mammal milk – meaning almond, rice, soy are all NO-NOs.  You do not need to spend the extra money to buy non-pasteurized since you will boil the milk anyway. They suggest you NOT use the ultra-pasteurized milk now common in stores to increase shelf-life.

As you can see there is a bottle of Colostrum in the picture above.  Kirkman sells a high quality colostrum (milk derived) but again no worries. The dose of colostrum is a little tricky.  The initial suggestion is for 8oz (1 cup) of colostrum (not in the instructions) but that makes the yogurt a little runny.  You need to work on this as time goes on but consistency is not that critical to culture results and health benefits. Temperature conversion are in the instructions.

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Preheating the yogurt maker and cups without their lids for 2 hours is critical.

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In the front is what Bravo calls compound 1 and behind that is compound 2.

IT IS CRITICAL THAT YOU WASH YOUR HANDS, JARS, SPOONS ETC AND KEEP THEM CLEAN AND DRY THROUGHOUT TO PREVENT CONTAMINATION.

I find the taste good without any special flavoring required but then I like real yogurt which is not the sugary stuff we get in the US. You can add honey to it but not until you are ready to serve.  If your child or you are unaccustomed to real fermented food I suggest you go slow and start with small amounts like  a teaspoon and work your way up to large doses.  I suggest adults and teens can have 4 oz a day and medium children 2 oz and little children 1 oz (2 tablespoons are 1 ounce).

Bravo is very responsive to emails so if you have any other questions please contact them about specifics. I hope this is helpful to you all. 

Italian Inspirations for New Therapies for autism – reblogging

Unfortunately my newest blog was accidently deleted in my efforts to learn a new blogging software system (my bad). However it is fresh in my mind and I will take this opportunity to add to it.

Firenze (Florence) was the birthplace of the Renaissance (which in the Italian translation means rebirth) and is an appropriate term for the growing influence of Italy in the research of Autism related disorders. 

First and foremost I must comment on the amazing families who both invited me to Italy and also made the entire trip a huge success (at least from my perspective).  My staff worked long hours to collate  the data and to communicate with the families and especially with Grazia Ciatti who worked amazingly hard to both translate and assist the families in this process.  Professor Marco Ruggiero from the University of Firenze (Florence) graciously contributed to his expertise and new discoveries on GcMAF to the presentations made on the first Saturday of this trip. And without the support of my wife – who both worked with the moms to provide those special touches and supported my efforts and long hours without complain – the trip would have been far less enjoyable.

Ruggiero Lab

Professor Ruggiero in one of his laboratories at the medical school at University of Firenze (Florence).

Ruggiero teaches on GcMAF

Professor Ruggiero was kind enough to present my data to the Italian families (in the Italian language) and together we discussed the ongoing nature of the research and concepts of the autism – immune – brain harmonic linkages.

Ruggiero teaching me about TUS

My time in Italy included hands on training by the professor on the diagnostic process of transcranial ultrasonography – a painless non-invasive technique that can image the temporal lobe with sound waves.

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The space between the two plus signs is the temporal (brain) cortical thickness.

J IiME. 6 (1): 23-28, 2012. Transcranial sonography in the diagnosis, follow-up and treatment of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome. Ruggiero M, Fiore MG, Magherini, S, Esposito S, Morucci G, Gulisano M and Pacini S.

Brain Stimul. 2012 May 29. Transcranial ultrasound (TUS) effects on mental states: A pilot study. Hameroff S, Trakas M, Duffield C, Annabi E, Bagambhrini Gerace M, Boyle P, Lucas A, Amos Q, Buadu A, Badal JJ.

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TUS is an emerging treatment for the brain that will require more investigation to evaluate its roll in Autism, however it is another promising modality which will be undergoing development in a collaboration with Ruggiero and our group.

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Professors Ruggiero and Pacini (above – also Husband and Wife) collaborated on the creation on a complex strain of multiple bacteria to induce mucosal immune responses similar to GcMAF and to help create a better ecosystem.   A product which is based on their published research is Bravo Probiotic and you can learn more about http://www.bravoprobiotic .com.  The early results from some of my patients throughout the World appear encouraging enough to warrant a formal  clinical study.

Ruggiero and I had some wonderful discussions leading to a plan to implement investigation of a proposed activated form of vitamin D that will have its transport molecule attached.  This will be intriguing and available for testing soon.  More to follow on this.

Florence is an inspirational city with a rich and remarkable history.  The people of Italy were charming and the families I became familiar with made the entire process an unforgettable experience.

Marco Ciatti is the Director of the institute charged with restoration of the amazing artifacts of the country.  Here he kindly is showing my wife (Jennifer) and I the technology used to restore daVinci’s unfinished masterpiece – the Adoration of the Magi. Although uniquely different the science of restoring masterpieces of art is reminiscent of the work we all put in to restoring our children from autism.

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With respect and admiration for the city of Florence and the people of Italy.

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