Autism as a whole-body disorder that affects the brain (Research from Dr. Martha Herbert)

In early October, shortly after my son was diagnosed with PDD-NOS, a small one-day conference was held in our area. The conference was called "When the Belly is the Beast" and featured presentations by Dr. Martha Herbert (Assistant Professor of Neurology at Harvard Medical School and Pediatric Neurologist at Mass General Hospital) and Pamela Ferro, RN (President of the Gottschall Autism Center). Dr. Herbert's talk focused on a non-traditional view that autism isn't merely a brain disorder, but a whole body disorder that affects the brain. The remainder of the day focused on the benefits of the Specific Carbohydrate Diet (SCD) for diseases like colitis, Crohn's disease, and many cases of autism.

In many ways, this was my indoctrination to the world of autism research. I had already read a ton of conflicting research theories and been left scratching my head. But when Dr. Herbert talked about autism as the result of many different factors—from genetics to the environment—it started to make sense.

The few criticisms I can find on the web of Dr. Herbert align her with the anti-vaccine groups. I haven't found anything specifically where she blames vaccines for autism, but toxins that have traditionally been in vaccines are just one of the many environmental factors she discusses.

I don't blame vaccines. That said, I'm still extremely nervous about them. Vaccines didn't give our son autism, though. He never received an MMR. In fact, he was under a month old when my wife had her first concerns about his development. There are so many different cases of autism, that the only rational explanation—to me—is that these kids are born with immune deficiencies. Then, the multitude of toxins they'll be exposed to in their lifetime negatively affects them, leading to autism. These can happen before birth, after birth, or after a significant trigger (such as a mercury-laden vaccine).

One of Dr. Herbert's well-known papers is called Autism: A Brain disorder or a disorder that affects the brain?. Here is the summary:

Autism is defined behaviorally, as a syndrome of abnormalities involving language, social reciprocity and hyperfocus or reduced behavioral flexibility. It is clearly heterogeneous, and it can be accompanied by unusual talents as well as by impairments, but its underlying biological and genetic basis is unknown. Autism has been modeled as a brain-based, strongly genetic disorder, but emerging findings and hypotheses support a broader model of the condition as genetically influenced and systemic. These include imaging, neuropathology and psychological evidence of pervasive (and not just specific) brain and phenotypic features; postnatal evolution and chronic persistence of brain, behavior, and tissue changes (e.g. inflammation) and physical illness symptomatology (e.g. gastrointestinal, immune, recurrent infection); overlap with other disorders; and reports of rate increases and improvement or recovery that support a role for modulation of the condition by environmental factors (e.g. exacerbation or triggering by toxins, infectious agents, or other stressors, or improvement by treatment). Modeling autism more broadly encompasses previous work, but also encourages the expansion of research and treatment to include intermediary domains of molecular and cellular mechanisms, as well as chronic tissue, metabolic and somatic changes previously addressed only to a limited degree. The heterogeneous biologies underlying autism may conceivably converge onto the autism profile via multiple mechanisms that all somehow perturb brain connectivity. Studying the interplay between the biology of intermediary mechanisms on the one hand and processing and connectivity abnormalities on the other may illuminate relevant final common pathways and contribute to focusing the search for treatment targets in this biologically and etiologically heterogeneous behavioral syndrome.

You can expect me to write much more about Dr. Herbert's research here.

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Engineered rabbit penises raise human hopes | Wired UK

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Genetic Counseling 1970

"It would seem in keeping, therefore, with modern public health procedure, to apply present knowledge in genetics to the prevention of avoidable birth deficiencies of hereditary and familial causation, rather than find it subsequently necessary to institute costly therapeutic and rehabilitation measures in attempts to overcome the damaging and emotionally disturbing effects of the deficiencies."

Introduction by Harold Abramson, MD
 
What are the deficiencies? Yes, that is the question. A long standing one.

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23andMe finds gene for the inability to smell asparagus in one's own urine | New Scientist

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genetic privacy & sci fi, a snippet revisited just because its on my mind

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http://www.pgpstudy.org/projectlit/participating/participating7.htm

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x sequencing y

"I was once naive enough to think that the study of human population genetics would conquer racism, or at least strongly challenge it. I thought science might put a stake through the dark heart of eugenics and racial hygiene. That’s because I didn’t know much about racism except some of the genetics of human inheritance. Genomics won’t conquer racism any more than evolutionary biology has beaten back Creationism, and Maynard Olson, among others, in “Davenport’s Dream” has noted that we can’t count on the facts reinforcing every Liberal Dream. We may find some phenotype-genotype associations that we find downright uncomfortable that cannot be attributed to schlock science. It is not a given, but it is a possibility. I just have to think there are many, many issues that are going to arise as it becomes cheap and fast to study the full genomes of lots of people, and as we can reconstruct our common and our uncommon ancestry with levels of specificity vastly beyond what we have been able to do until now."

from http://www.genomicslawreport.com/index.php/2009/10/19/the-balance-of-experiment-and-theory-is-shifting-in-genomics-this-matters-for-elsi/

by http://www.genome.duke.edu/people/faculty/cookdeegan/

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PGP Update - Unique Trait survey

From the Participation Consent page: "To be considered for enrollment in the PGP, you are required to electronically submit baseline trait data about yourself, including: date of birth, medications, allergies, vaccines, personal medical history, race/ethnicity/ancestry, and vital signs (e.g. height, weight, blood pressure).  The full list of personal information required for enrollment may be found on the project website."

psst: really am socially awkward and/or have some degree of shyness. no one knows, though. keep it secret, k?

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All about PCR(Polymerase Chain Reaction) in a song!!

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a global, more protective GINA

Personal genomics and genetic information nondiscrimination legislation: Are we ready?

This commentary in the Genomics Law Report’s ongoing series What ELSI is New?is contributed by David Gurwitz, Tel-Aviv University Department of Human Molecular Genetics and Biochemistry.

The age of personal genomics has arrived faster than most have expected. While the purchase of full genome sequencing services may today be too costly for most to consider, full genome sequencing costs are projected to fall under US$1000 within less than a decade. But are we ready for the personal genomics age and its far-reaching societal implications? There are countless ELSI matters that need to be considered in the context of readily available personal genomes. One key aspect is the need for more comprehensive genetic information non-discrimination legislation.

Legislation is a notoriously slow process; when it comes to handling new technologies, legislators may take many years to catch up. Israel was among the first States to pass – already in 2000 – a comprehensive genetic information non-discrimination law; some European States soon followed. In the US, however, a similar legislation process suffered a lengthy birth: The Genetic Information Nondiscrimination Act (GINA) of 2008 has been in the making for over a decade (1), in spite of strong support from research associations and groups such as the NIH Pharmacogenomics Research Network (2). GINA, finally signed into law on May 21, 2008, protects Americans against discrimination in health coverage and employment based on individual genetic information (3). However it does not protect individuals against misuse of genetic information by life or disability insurance providers, banks, schools, or immigration authorities (4-6). Amending GINA for assuring wider protections seems urgent: personal genome sequences coming from proliferating electronic health records and government forensics databases, and other sources of personal sequences, including Facebook-like websites, are being contained in innumerable internet-based resources. Safeguards are typically in place to ensure that only qualified persons may access personal genetic profile records, but no safeguards are failsafe (7).

We are the citizens of an ever more closely connected global village. Individuals may migrate to new countries in pursuit of better jobs, security, or love. The accessibility of personal genomic data on the internet, however, knows no boundaries. Individuals may find themselves living in countries where privacy protections are below the level they have been accustomed to in their homeland country, while their personal genetic data acquired at home will accompany them to their new base. There is thus a far more urgent need: a global agreement prohibiting discrimination based on personal genetic information.

This remarkable task is doable: the global ban on human cloning is a fine example. A Declaration or International Bill – ideally issued by the United Nations – may be the most efficient way forward. Article 2 of theUniversal Declaration of Human Rights, the basis for the International Bill of Human Rights, states that

“Everyone is entitled to all the rights and freedoms set forth in this Declaration, without distinction of any kind, such as race, colour, sex, language, religion, political or other opinion, national or social origin, property, birth or other status.”

Ideally, this list should also include, ‘personal genetic information’. Let us hope this will not take too long – so we can be less concerned about the age of personal genomics.

Posted by ELSI Contributor on October 7, 2009

References:

1. Genetic Information Nondiscrimination Act (GINA) of 2008

2. Altman RB, Benowitz N, Gurwitz D, Lunshof J, Relling M, Lamba J, Wieben E, Mooney S, Giacomini K, Weiss S, Johnson JA, McLeod H, Flockhart D, Weinshilboum R, Shuldiner AR, Roden D, Krauss RM, Ratain M. Genetic nondiscrimination legislation: a critical prerequisite for pharmacogenomics data sharing.Pharmacogenomics. 2007;8:519.

3. Hudson KL, Holohan MK, Collins FS. Keeping pace with the times–the Genetic Information Nondiscrimination Act of 2008. N Engl J Med. 2008;358:2661-2663.

4. Korobkin R, Rajkumar R. The Genetic Information Nondiscrimination Act–a half-step toward risk sharing. N Engl J Med. 2008;359:335-337.

5. McGuire AL, Majumder MA. Two cheers for GINA? Genome Med. 2009;1:6.

6. Gurwitz D, Fortier I, Lunshof JE, Knoppers BM. Children and population biobanks. Science. 2009;325:818-819.

7. Lunshof JE, Chadwick R, Vorhaus DB, Church GM. From genetic privacy to open consent. Nat Rev Genet. 2008;9:406-411.

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American trio get nobel prize for medicine(2009)for discovering 'Telomerase'.

• Three Americans Share Nobel Prize for Medicine
• 
• Americans Elizabeth H. Blackburn, Carol W. Greider and Jack W. Szostak won the 2009 Nobel Prize in medicine on Monday for discovering a key mechanism in the genetic operations of cells, an insight that has inspired new lines of research into cancer.
• The first time two women have been among the winners of the medicine prize
• The trio solved the mystery of how chromosomes, the rod-like structures that carry DNA, protect themselves from degrading when cells divide.
• Telomeres that are often compared to the plastic tips at the end of shoe laces that keep those laces from unraveling.(What a beautiful analogy!)
  
• Blackburn and Greider discovered the enzyme that builds telomeres -- telomerase -- and the mechanism by which it adds DNA to the tips of chromosomes to replace genetic material that has eroded away.
• Some inherited diseases are now known to be caused by telomerase defects, including certain forms of congenital aplastic anemia, in which insufficient cell divisions in the stem cells of the bone marrow lead to severe anemia. Certain inherited diseases of the skin and the lungs are also caused by telomerase defects.

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