Monthly Archives: April 2018

The human noncoding genome is defined by genetic diversity

As described often in these GEITP pages (archived articles can be found at https://genewhisperer.com/, thanks to the generous time and energy of Marian Miller), the human haploid (i.e. DNA on one chromosome) genome comprises ~3.2 billion nucleotides; the diploid genome … Continue reading

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Increasing numbers of children diagnosed with AUTISM SPECTRUM DISORDER (ASD) in recent years

ASD is an extremely puzzling disorder –– undoubtedly the combination of genetics, epigenetics and environment. I just checked PubMed with the words “autism etiology review” and there are >3,400 REVIEWS alone, on this topic! The term “infantile autism” was first … Continue reading

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More children diagnosed with autism spectrum disorder (ASD) in recent years

This is a recent article from ABCnews.com. As I’ve mentioned before, in probably 10,000 pediatric patients I’ve observed over the years –– I was certain that only one child truly had autism; and the mother exhibited a schizoid personality (but … Continue reading

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Transparency and Reproducibility

This (excellently written, very timely and relevant) article by Ken Haapala was posted on the S.E.P.P. web site this week. DwN Transparency and Reproducibility By Ken Haapala, President, Science and Environmental Policy Project (SEPP) Writing for the National Association of … Continue reading

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Cracking the Code of Life—at Light Speed

Cracking the Code of Life—at Light Speed Mike Hunkapiller helped invent the DNA-sequencing machines that read the human genome. Now his company’s tools are decoding everything from insects to cancer cells. By Kyle Peterson April 27, 2018 6:03 p.m. ET … Continue reading

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Whole-exome sequencing (WES) analysis identifies importance of rare coding variants in the development of esophageal cancer

Along any chromosomal segment, the DNA is divided into genes and intergenic regions. Intergenic regions include promoters and enhancers near a gene that usually regulate the expression of that gene (but sometimes distant genes) –– as well as many other … Continue reading

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Artificial Sweeteners in Mice: Linked to Obesity and Diabetes

This is a recent article from Newsweek –– that some of you might be interested in reading. Yet-another example of gene-environment (GxE) interactions. The “Environment” in this case is artificial sweeteners. The “Gene(s)” (in some people, but not others) contribute … Continue reading

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Embryonic defects — induced by maternal obesity in mice are caused by DPPA3 insufficiency in oocytes

This topic is an intriguing gene-environment (GxE) interactions example. The “environment” in this case is maternal obesity, or maternal diet. The “genes affected” include Dppa3 (Stella) which was previously known to participate as a maternal-effect gene in mouse embryos. DPPA3 … Continue reading

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Refining type-2 diabetes (T2D) from two types — into five classifications. A more sensible clinical approach.

I predict this exciting article will become a highly-cited landmark publication –– at least in the field of DIABETES. A layman’s article on this topic was shared by all of GEITP on 2 March 2018 and it posted again [way … Continue reading

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Sickle Cell Anemia: Whole-genome-sequencing (WGS)-based haplotypes reveal a single origin of the mutation in the HBB gene — 7,300 years ago (259 generations)

There are ten hemoglobin subunit genes in the human genome: HBA1, HBA2, HBB, HBD, HBE1, HBG1, HBG2, HBM, HBQ1 and HBZ. One of the original heritable diseases presented in early genetics textbooks is sickle cell anemia. There are several hereditary … Continue reading

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