Saturday, November 18, 2023

Real Science: "Genomics Has Revealed An Age Undreamed Of"

So much of what tries to pass itself off as science isn't.*

And then there's Mendel and Mendeleev. They laid the base.

From Palladium Magazine, November 17:

On June 26, 2000, President Bill Clinton announced the completion of the draft of the human genome at a press conference with the two project leads, Francis Collins and J. Craig Venter. A genome is all the genetic information of an organism. Scientists had conceived of the Human Genome Project in the 1980s, and, in the first half of the 1990s, expected it to be an endeavor that would go on for decades. But an unexpected technological revolution of faster computers and better chemistry accelerated the ten-year effort toward the finish line, just as the 20th century came to a close.

The American-led international effort cost more than $3 billion dollars and involved thousands of people. Since then, the last 23 years of the 21st century have seen a sea change in the landscape of genomics, from blue-sky basic science to mass-market consumer products. Companies like Nebula now provide entire genome sequences that are medical-grade quality for $200; down from a price point of $20,000 just 13 years ago. We’ve gone from a single mapped genome—that of humanity—to more than a million genomes. This is a case where quantity has a quality all its own; the commoditization of genomic sequencing has radically transformed how we do genetics.

Yet at the dawn of this brave new genomic era, it is not health and well-being outcomes that have been revolutionized. Rather, genomics as a window into the human past has vindicated Alfred Tennyson’s poetic assertion that nature is “red in tooth and claw.” Where a few decades ago archaeologists and historians had to cobble together inferences from pottery shards, slotting their data into theories that owed more to political fashions of the present than scientific facts of the past, today they can chart the rise and fall of peoples from the clear evidence of the genes.

Collins and Venter promised a shiny future of good health and a more enlightened understanding of humanity’s place in the world, but their invention has, instead, unleashed knowledge of a bygone age of brutality reminiscent of Conan the Barbarian’s Hyperborean Age. Historians can list Genghis Khan’s concubines, but it is genetics that tells us that 10% of Central Asian men are his direct paternal descendants, bringing home the magnitude of his conquests. But obviously, we aren’t fated to relive the brutality of the past; just as technology can open a window back in time, it can unlock the door to a brighter future. The question is what advances we as species wish to make.

The Book of Nature Has a Billion Pages
A single human genome has two copies of each gene, of which there are 19,000. These 19,000 genes are distributed across three billion base pairs of adenine, cytosine, guanine, and thymine, or ACGT for short. Notably, the number of genes that humans have has been discovered only within the last twenty years, even though genetics as a scientific field is over 150 years old. The reason for this recent explosion in our knowledge is that, before the 1990s, genetics probed a digital process—the recombination of discrete units of heredity from the same and different individuals—with analog means. The correlation of characteristics between parents and offspring is intuitively obvious, but the mechanisms by which inheritance occurs are not self-evident.

Our naïve assumption is that the characteristics blend together, resulting in a child who is a synthesis of the traits of the parents e.g. a short parent and a tall parent will produce medium-height offspring. But the implication of this model is that, over the generations, all human variation should be blended away as each generation is the average of the previous one. That simply does not occur. Humans remain as variable as they have been in the past. The insight of Mendelian genetics is that inheritance does not proceed through blending, but through the rearrangement of discrete units of variation.

At about the same time that Charles Darwin was revolutionizing our understanding of the tree of life with his theory of evolutionary change through natural selection, an Austrian monk named Gregor Mendel stumbled upon the framework that would later be called genetics. Between 1856 and 1863, he realized that inheritance seemed to be mediated by particular units of inheritance he called “factors,” and would later be called genes. Mendel hypothesized complex organisms had two copies of many factors, discrete bundles of information that were rearranged every generation through the law of segregation—that you inherit one copy of a gene from each parent—and the law of independent assortment, that you inherit factors independently from each other.

Mendel came to these insights through a famous set of experiments where he crossed lines of peas with distinct characteristics and noted that some traits bred true and others did not. Two short pea plants always produced short pea plants. But two tall pea plants sometimes also produced short pea plants. A model of blending inheritance cannot explain recessive traits, but a Mendelian framework can. Whereas intuitive blendings of inheritance take the visible traits as the only variables of interest in understanding intergenerational change in characteristics, Mendelian genetics implies that phenotypes emerge from the interactions of underlying genotypes.

These genotypes are the true factors through which variation is preserved from generation to generation; an organism’s visible characteristics are only pointers to the true underlying heritable variation present in the genes. Darwin’s Origin of Species was published in 1859 to great fanfare, but Darwin famously lacked a plausible mechanism of inheritance that could maintain the variation that was necessary for natural selection. Mendel provided the answer, but the Austrian monk’s single 1866 paper, “Experiments on Plant Hybridization,” was ignored by the scientific community of the time, only to be rediscovered around 1900, when the modern field of genetics was born....

....MUCH MORE
*It is tough to beat "Glaciers, Gender, and Science":
A feminist glaciology framework for global environmental change research

Abstract

Glaciers are key icons of climate change and global environmental change. However, the relationships among gender, science, and glaciers – particularly related to epistemological questions about the production of glaciological knowledge – remain understudied. This paper thus proposes a feminist glaciology framework with four key components: 1) knowledge producers; (2) gendered science and knowledge; (3) systems of scientific domination; and (4) alternative representations of glaciers. Merging feminist postcolonial science studies and feminist political ecology, the feminist glaciology framework generates robust analysis of gender, power, and epistemologies in dynamic social-ecological systems, thereby leading to more just and equitable science and human-ice interactions.

I Introduction

Glaciers are icons of global climate change, with common representations stripping them of social and cultural contexts to portray ice as simplified climate change yardsticks and thermometers. In geophysicist Henry Pollack’s articulation, ‘Ice asks no questions, presents no arguments, reads no newspapers, listens to no debates. It is not burdened by ideology and carries no political baggage as it crosses the threshold from solid to liquid. It just melts’ (Pollack, 2009: 114). This perspective appears consistently in public discourse, from media to the Intergovernmental Panel on Climate Change (IPCC). But the ‘ice is just ice’ conceptualization contrasts sharply with conclusions by researchers such as Cruikshank (2005), who asks if glaciers listen, Orlove et al. (2008b), who analyze the cultural framing of glaciers, Carey (2007), who sees an endangered species narrative applied to glaciers, Jackson (2015), who exposes how glaciers are depicted as ruins, and Sörlin (2015), who refers to the present as a cryo-historical moment because ‘ice has become historical, i.e. that ice is an element of change and thus something that can be considered as part of society and of societal concern’ (Sörlin, 2015: 327)....
Some previous posts on real science:
"Science without Validation in a World without Meaning"
From American Affairs Journal:

Physicist Richard Feynman had the following advice for those interested in science: “So I hope you can accept Nature as She is—absurd.”1 Here Feynman captures in stark terms the most basic insight of modern science: nature is not understandable in terms of ordinary physical concepts and is, therefore, absurd.

The unintelligibility of nature has huge consequences when it comes to determining the validity of a scientific theory. On this question, Feynman also had a concise answer: “It is whether or not the theory gives predictions that agree with experiment. It is not a question of whether a theory is philosophically delightful, or easy to understand, or perfectly reasonable from the point of view of common sense.”2 So put reasonableness and common sense aside when judging a scientific theory. Put your conceptual models and visualizations away. They might help you formulate a theory, or they might not. They might help to explain a theory, or they might obfuscate it. But they cannot validate it, nor can 
they give it meaning....

"Nanotechnology Facets of the Periodic Table of Elements"
From the American Chemical Society's ACS Nano:

Abstract
The 150th anniversary of the periodic table of elements highlights its tremendous role in chemistry, physics, biology, astronomy, philosophy, and engineering as a shining scientific breakthrough, shedding light on the fundamental laws of nature. Nanoscience and nanotechnology are multidisciplinary, focusing on nanoscale materials and processes, in which a variety of elements are used and single atoms are often manipulated. In this Perspective, we present a new viewpoint on what the renown periodic table can offer to researchers working on nanomaterials.
The United Nations General Assembly decreed 2019 as the International Year of the Periodic Table of Chemical Elements in an effort to highlight the importance of the periodic table as one of the most influential discoveries in modern science. The periodic table, created 150 years ago, is of fundamental importance for various branches of chemistry, physics, and biology as well as a powerful and precise tool for predictable design of innovative chemical compounds and materials.(1) Different elements have played critical roles in different periods of human activities, with Si being a key element, at present. However, the nanotechnology age has brought different elements into the limelight and transformed their roles in science and technology. We briefly discuss those elements and their applications in nanomaterials in this Perspective.
 
The periodic table, created 150 years ago, is of fundamental importance for various branches of chemistry, physics, and biology as well as a powerful and precise tool for predictable design of innovative chemical compounds and materials.
Energy, Information, and Light. s- and p-Block Elements as the Gems of Nanotechnology

Nitrogen Upgraded, Potash Target Lowered; Ununquadium Decayed (AGU, CF; TRA; POT)

To my mind one of the goals of science or investing should be enough mastery and understanding to enable prediction. The greatest example in science was probably Dmitri Mendeleev's creation of the periodic table and his insight that he should leave spaces for elements not yet discovered.
His prediction of the properties of gallium, germanium and scandium contrasts with pseudo-science in that it is testable.

If you ever want to piss an economist off, tell them that just because they use a tool of science (mathematics), that alone doesn't make economics a science. Science is falsifiable. Mendeleev had a swing-and-a-miss on the atomic weight of tellurium, the prediction was falsified, showing that this is a true science.
Ununquadium is element 114, discovered in 1998. We're now up to 118, ununoctium, with a gap at 117. The prediction of the properties of the undiscovered element includes a half-life of 3 nanoseconds.

This ramble was triggered by a discussion last night on alternatives to gallium (in CIGS) and tellurium in CdTe thin films. It was the first time I realized an argument could be made that Mendeleev is the father of thin-film solar. Continuing our trip through the periodic table, on to the nitrogen story, from Notable Calls....

Sometimes I am just plain ornery:

Reproducibility is pretty much the cornerstone of science. And yet some Bozo can come out and say:
People on all sides of the recent push for direct replication—a push I find both charming and naive—are angry....
and keep his pathetic little job. As the young people used to phrase the rejoinder: L

By the way, that was  James Coan, who calls himself Dr. although he apparently didn't have the intellectual horsepower to become a Chiropractor or D.D.S., writing in the Journal Medium.

Rather than the two honorable professions named above he's a freakin' Associate Professor of Clinical Psychology at the University of Virginia.
Jefferson weeps.

See, the thing is, if what one is writing about can't be reproduced, that kind of writing is called 'Literature'.
And, although gentle reader probably doesn't care, yes, I know the difference between replication and reproducibility.
Serious stuff.

I've mentioned the fact that if you can't can't replicate what you're doing, what you're doing isn't science. It might be metaphysics, it might be pseudoscience, it might be religion, it might be any number of things but it isn't science.

Reproducibility and falsifiability, along with predictive power are pretty much the definition of science.
(here's a quick explanation of the difference between reproducibility and replicability in science) 

What Mendeleev did in describing the properties of as-yet undiscovered elements was science. So-called post-normal science is not, it's policymaking gussied up with sciency sounding words.

See Feynman's 1974 Caltech commencement address. Cargo Cult Science for a really smart guy's take on the issue....