Mutants - Armand Marie Leroi

 Sub-title: On Genetic Variety and the Human Body

I'm on the fence about this one.  I picked it up at a used bookstore that had a shelf of books on genetics, one of my favorite topics.  It's dated, however, the facts explained are still interesting. The book focuses on the impact of mutations in our genetic makeup that are responsible for the deformities seen in humans.  That focus makes the book what could be described as morbidly fascinating, using that appeal to actually provide scientific insights on what makes us different.

I felt the author was disingenuous and exploitative of individuals who have had to live with the results. I learned the names of several genetically caused conditions and their persistence since ancient history. I was intrigued by his suggestion that dying before 100 or 120, or just aging itself, could be a mutation in the species that survived because it only occurs after the individual can no longer (or doesn't usually) reproduce and thus hasn't been weeded out by natural selection. Not recommended.

Published:  2003  Read: March 2024  Genre: Science

Saxons, Vikings and Celts - Bryan Sykes

 

It took me a while to get through this one.  I've read other of Sykes's books; Adam's Curse and The Seven Daughters of Eve where he had written about Y-DNA and Mitochondrial DNA.  In this book, he builds on those to share his research into the Y and mtDNA of the British Isles.  At the same time he gives a history lesson on the inhabitants and migration of people to the lands.  

It took a long time to wade through the history to reach his summary of the different haplogroups he found in the regions and his interpretation of their meaning.  His research concluded that the origins of the people of the British Isles are primarily Celtic, which is no different from Picts, overlaid with a bit of Vikings and Saxons.  The female lines show a greater influx of women brought to the land and the male lines show the persistence of the ancient settlers although the Genghis Khan affect left secondary group of conquering subsequent intruders. He also used male and female names for the haplogroups as a means of personalizing the ancestral lines instead of reducing them to a code.  Its good background for genealogists and historians.

Published: 2006 Read: Genre: Science, History

Control - Adam Rutherford

 Sub-title: The Dark History and Troubling Present of Eugenics

With my recent delving into genetics use for law enforcement cases and discussions about the ethics of the practice, this book caught my eye at the library.  The author reviews the history and widespread belief in eugenics in the past and its re-emergence in the present.  Its disheartening to see how the human race so readily embraces the desire to be better than others rather than being a better self. 

The ability to alter our genetics before birth and/or after is moving ahead rapidly (the author cites the gene altering done in China to prevent HIV in the embryos of two sisters whose father was HIV positive) and the point of the book is to raise questions about the ethics and impacts.  A thoughtful read.

Quotes:

"Embryo selection for traits (as opposed to diseases) is not permitted in most countries in the world with the notable exception of the United States."

Companies - Genomic Predictions, Inc; Orchid Health, MyOme

Published:  2023  Read: August 2023  Genre: History

Adam's Curse - Bryan Sykes

This was a great read, in my quest to catch up with the origins of DNA science.  The author, Bryan Sykes, first got my attention with his book, Seven Daughters of Eve.  It's entertaining despite all the scientific details.  I've got another one of his books left to read.

Quotes:

"It is no secret that, underneath it all, men are basically genetically modified women."

"..the accumulated rate of non-paternity events...comes to 1.3 % non-paternity events per generation."

"Only men get haemophilia and only men are colour-blind.  Because the genes for both haemophilia and colour-blindness are carried on the X-chromosome."

Published: 2018  Read: January 2023  Genre: Science 

Who We Are and How We Got Here - David Reich

Sub-title: Ancient DNA and the New Science of the Human Past

My Advanced Genetic Genealogy study group recommended this one when we were discussing books related to mitochondrial DNA (mtDNA).  It took me a while to get through.  The first two-thirds was a lot of science of whole genome sequencing (WGS) of DNA from ancient remains and covered how Europe, India, America and Asia were populated and how they tied back to Africa.  It provides a significant update of studies of ancient DNA.

The last part of the book covered how genomic studies reveal inequality, race, identity and concludes with a discussion of the future of ancient DNA. The author described how statistical genetics are applied to determine population origination and migration.  I enjoyed reading it and look forward to future developments in the field.

Quotes and Notes:

[explanation of DNA segments] "Females create an average of about 45 new splices when producing eggs while males create about 26 new splices when producing sperm, for a total of about 71 onew splices per generation."

[population bottlenecks] "European ancestry...Ashkenazi Jews, Finns, Hutterites, Amish, French Canadians of the Saguenay-Lac-St.-Jean region and others--have been the subject of endless and productive study by medical researchers."

"...around one-third of Indian jati [caste system] groups descend from bottlenecks as strong or stronger than those that occurred in Ashkenazi Jews or Finns."

[genomics of inequality] "The archaeologist Marija Gimbutas...argues that the arrival of the Yamnaya [nomadic Steppe culture dating to 3300-2600 BCE] in Europe heralded a shift in the power relationship between the sexes. "

"Between 2011 and 2015...23andMe provided customers with an estimate of their proportion of Neanderthal ancestry. The measurement made by the test was highly inaccurate, however.  Later, 23andMe changed its report....however the company continues to provide its customers with a ranking of the number of Neanderthal-derived mutations they carry.  This ranking, too, does not provide strong evidence that customer have inherited more Neanderthal DNA than their population average."

"At the rate at which ancient DNA data are now being produced...a single laboratory will be producing genome-wide data from thousands of ancient people a year.  This will make it possible to provide a detailed chronicle of how human populations have changed over recent millennia."

Published:  2018  Read: January 2023  Genre: Science

A Short History of Humanity - Johannes Krause and Thomas Trappe

 Sub-title: A New History of Old Europe

Krause is an archaeogeneticist, an archaeologist who focuses on the ancient DNA discovered in archeological digs. His co-author, Thomas Trappe is a German health journalist.  The book re-visits previously recovered remains from ancient origins to apply the latest DNA technical analysis tools.  Using this updated information, some discoveries are reaffirmed, and others updated or revised entirely.  As explained in recent articles where ancient (13th-14th century) remains are analyzed, in some cases, entirely new discoveries are made.  The book can get a bit technical on the science used.  I was fascinated with the process and how our understanding of ancient migration patterns, languages, and diseases can be tracked using DNA.

Quotes:

p 27 "A mutation reliably appears in mtDNA only every 3,000 years on average...this means that for 3,000 years, the mtDNA passed down along a female line is identical."

p 27 "The mtDNA of all living modern human beings can be traced back to a single female ancestor...she lived around 160,000 years ago...mitochondrial Eve. A male counterpart, chromosomal Adam, lived almost 200,000 years before mitochondrial Eve however, so we can say with certainty that they weren't a couple."

p 41 "Some Europeans and many South Asians, inherited a gene that causes a much stronger immune reaction to a COVID-19 virus infection.  Carriers of the Neanderthal gene are three times more likely to die from this newly emerged virus."

p. 144 "Using DNA analysis, we were able to identify men from five consecutive generations in some family graves, but we did not find a single adult female descendant, confirming that the daughters of the families were likely sent away before they became adults.  Evidently sons, instead, inherited the farmsteads from their fathers. ..In all, this genetic data reveals patriarchal and hierarchical structures that became widespread during the Bronze Age and continue to shape some familial and social conventions even today."

p. 167..." in 2012, the US Dept. of Defense launch the Defense Threat Reduction Agency's Algorithm Challenge...to develop a computer algorithm that would quickly discover and identify bacterial and viral DNA.  Daniel Huson, a specialist in bioinformatics, developed a related algorithm that could match a billion DNA sequences to their organism of origin within 24 hours..instead of weeks.

Published:  2021  Read: December 2022  Genre: History, Science

The End of Genetics - David B Goldstein

Sub-title: Designing humanity's DNA

This was a startling book, with a perspective on the use of DNA for choosing the genes of children before birth.  I marked multiple pages.  The summary is that we will be able to alter the genetics prenatal before we have established whether we should, and if we do, for what reasons.  The author points out that as of now we are a long way from knowing the consequences of such changes. He even mentions sequencing the entire population as a way to "position the country to be more resilient in the face of future global health crises".  

p.7 - "If we consider only point mutations then each child born will have its own collection of brand-new mutations...between fifty and a few hundred...distributed throughout his or her genome, with the exact number depending very strongly on the age of the father."

p. 13 - "Alistair Moffat is the former chief executive officer of Britain's DNA, a now-defunct for-profit personal genomics company.[example of ridiculous claims]"

p. 23 "...437 genes [mendelian disease] that are known to cause diseases that are severe and present in childhood if a child carries two mutations.  'Screening for such mutations in people and prospective parents is now called carrier screening'."

p. 44 "...all four thousand genes that we now know about that cause severe inherited disease follow [Mendelian] pattern of inheritance."

p.59 "...the modern Synthesis, which unites Mendelian inheritance and Darwin's theory of evolution by natural selection and the Central Dogma, which describe the flow of information from DNA through RNA to the proteins responsible for the diversity of organisms on earth."

p. 94 "...polygenic risk scores ..are based on the complement of common variation an individual carries."

p. 108 "There will clearly be a very substantial market among prospective parents for any tools that can ensure the non-transmissions of variants causing disease that cannot be comprehensively cured."

p. 113 "Today we know of 1,488 genes that cause disease following a dominant mode of inheritance."

p. 117 "...it has been estimated that as many as two out of every hundred people carry a disease-causing mutation in one of these 'actionable' genes."

Published: 2021  Read: August 2022  Genre: Science

Origin - Jennifer Raff

 Sub-title: A Genetic History of the Americas

I've been reading recently published books addressing genetics and DNA.  This one came to my attention in my social media feed and I had to wait several weeks for it to be available at the library.

The author is an anthropologist and geneticist with the University of Kansas.  While she is letting the research on ancient remains tell the story of how the Americas may have bee populated, her larger message is that the scientific community and the general public needs to seek out and respect the Native Americans who are the modern descendants of the peoples they study and research and that we should be collaborating with them, as she does.

I enjoyed the summary of the science to date, the history of the finds and analysis of the on-site anthropological materials as well as the laboratory work done to analyze DNA.  A good read that brought into perspective the studies being done to trace our human family.  I will be interested to see what fellow genealogists who have researched Native American DNA think of her book.

Quotes:

p. 150 - She provides an explanation of extensive lab procedures for cleanliness and to avoid contamination as "...a contract between ourselves [scientists] and the Indigenous peoples who have given us permission to conduct this work" that demonstrates the ethics of anthropology and genetics.

p. 198 - She describes the parallels between the evolution of dogs as contributing to being "...able to get insights into human story from an unexpected source: the genomes of dogs."

p. 256 - "...the Common Rule, which underlies ethical oversight of research on humans (governed by Institutional Review Boards or IRBs) does not apply to ancient humans.  NAGPRA, the law the governs human remains and artifacts associated with descendant tribe, does not apply to the remains of ancient people found on private property."

p. 261 - "For Indigenous peoples this [Native American heritage] is not a minor or abstract issue; giving legitimacy to the notion that one can claim Native identify via a DNA test or family legend without any connection to present-day tribes is an implicit threat to tribal sovereignty....Because of widespread interest ...commercial ancestry testing services are intensely focused on obtaining Native American DNA from tribal members...met with a fair amount of resistance.  The marketing of ancestor test as "telling you who you are" is not accurate.  It boils down to this - what makes a person Indigenous is not a subject on which I- or any other non-Native geneticist- can speak with any authority or knowledge."

Published: 2022  Read: May 2022  Genre: Science

Living with Our Genes - Dean Hamer and Peter Copeland

I picked up this book at the genealogical society in Green Valley, Arizona. They were clearing out their collection of older books and duplicates and I picked up a bunch!  Reading older published works highlights the progress that's been made over the past 20 plus years since this book was released.  The scientist, Dean Hamer, is a cancer researcher from Harvard and still operates a program doing genetic research.  He was controversial, claiming he had identified genes that may be associated with sexual orientation and intelligence.  The books's claims are considered glib and over-generalizations, but at the time were quite sensational, much like the claims of early 19th century snake oil salesman.  Not worth reading except for a gaining a perspective on how science evolves and can be exploited on the way.

Published: 1998  Read: March 2022  Genre: Science

The Genetic Lottery - Kathryn Paige Harden

Subtitle: Why DNA Matters for Social Equality

This is a very dense, detailed, well-documented treatise advocating for the analysis of DNA's impact on social and behavioral issues to improve social equality.  I think I understand and grasp some of it but much was difficult to unpack without a background in scientific research.  Her argument is that scientific evidence, namely polygenetic indexes and twin studies show that certain traits are inherited, such as education and income achievement, though they are both heavily influenced as well by environmental factors.  Given this fact, she advocates for equalizing the disparities this causes by providing social programs that acknowledge the differences due to both genetic and environmental factors.

It's a touchy subject because it's been hijacked by eugenic proponents to claim nothing can be done about social inequity if it is affected by genetics.  I was not convinced of her arguments.

Quotes and Notes:

Ploygenic indices are the human version of estimated breeding values in agriculture.

All of your genome, then, can be considered a form of luck in your life.

In 2013 journal Science published results....and found three genetic variants that were associated with educational attainment...rs9320913, rs11584700, rs4851266

...I have students practice talking about psychology studies using the following language: 'This study was about Construct X, as measured by Y.'.

..sometime between 500 and 200 BC, as the Sumerian were developing a written alphabet and Egypt's first dynasty was being established, you reach an even more remarkable point - everyone  alive then, if they left any descendants at all, was a common ancestor of everyone alive now.  If we trace our family trees back far enough, they all become one and the same.

There are on average, 33 of these recombinations events that occur every time a genome is transmitted to the next generation.  So, the 22 chromosomes that you inherited [from your father]can be broken down into 22 + 33 = 55 different chunks, each of which can be traced back to on of your two paternal grandparents.

...the U.S. Census, which began in 1790, did not allow people to pick more than one race until 2000.

Why are inequalities that are related to your genes more acceptable than inequalities rooted in the social circumstances of your birth?  After all, as I've argued...both are accidents of birth, forms of luck over which a person has no control.

[sign] Fair Isn't everybody getting the same thing, Fair is everybody getting what they need in order to be successful. 

[picture] Equality (3 people standing next to fence on same height box but people are different heights and only those tall enough can see over fence) vs. Equity (same 3 people where shorter ones stand on boxes to be the same height as tallest an all can see over the fence).

...one lesson is that figuring out which specific environments make a difference, for whom, at what point in the life span, is a harder problem than it might appear at first, because most of those environments are braided together with genetic differences between people.

[Ben Domingue, social scientist] 'genetics are a useful mechanism for understanding why people from relatively similar backgrounds end up different...but genetics is a poor tool for understanding why people from manifestly different starting points don't end up the same.'

The biggest contribution of genetics...is a set of tools to do basic research by measuring and statistically controlling for a variable - DNA

inherently valuable vs socially valued - used in describing whether a gene is good or bad based on perspective

,,,use in military of people with ASDs (autism spectrum disorders) who have heightened attention to visual detail and pattern can be put to use scanning satellite images.

I hope to start the conversation about...anti-eugenicist.  5 principles: 1) stop wasting time, money, talent and tools that could be used to improve people's lives, 2) use genetic info to improve opportunity, not classify people 3) use genetic information for equity, not exclusion 4) don't mistake being lucky for being good and 5) consider what you would do if you didn't know who you would be.

Published: 2021  Read: December 2021  Genre: Sociology 

The End of Men - Christina Sweeney-Baird

Written in 2018 and finalized in 2019 this story imagines a future where a virus only affects males - and is 90% fatal, leaving the world with only 10% of the males due to an X-chromosome mutation.  Told in first-person by a slate of female characters from different walks of life; a doctor, a scientist, politician, teacher, anthropologist. They have different reactions and experiences to the extreme loss of males; their husbands, sons, brothers, co-workers, friends.  The profound grief is explored with each character and then...the adjustments they make as individuals and as a society that changes so drastically.  Feminism and males as a minority is explored.  Re-populating the human race made me wonder what it would be like if only 10% of the males in the world were eventually the ancestors of all the subsequent generations.  The world eventually goes on. 

I thought there were so many other perspectives the author could have detailed and was disappointed there wasn't more depth to the story.  Many of the changes were to me "oh, yes, that would change." Not enough pilots or surgeons or engineers or mechanics.  I suspect the book was pushed to release when the coronavirus became a reality.  Despite those shortcomings, it would a rich source of discussion.  

Quotes

"Gynarchy is the word we use for the takeover by women of the world, depriving men from taking their rightful places in society."

"I stand in the hallway breathing heavily for a a few seconds before breaking into a smile.  I have never felt so powerful.  This must be what men used to feel like.  My mere physical presence is enough to terrify someone into running.  No wonder they used to get drunk on it."

Published: 2021  Read: October 2021  Genre: Fiction 

The Violinist's Thumb - Sam Kean

Sub-title: and other lost tales of Love, War, and Genius, as written by our Genetic Code

This was a delight!  I'm crazy about genetics and DNA and this science writer has a wonderful way of making complicated subjects into entertaining stories.  I'd read his debut book, The Disappearing Spoon about the periodic table of the elements in 2015.  In this book, he uses anecdotes to illustrate principles and discoveries of DNA and genetics.  The title comes from the uniquely ability of Paganini, the violin virtuoso whose thumb flexibility is attributed to a genetic mutation.  The author takes us through history and the evidence provided by DNA in a variety of settings.  Even the notes at the end of the book are great reads! 

Some quotes I marked:

"Zipfs law says that the most common word in a language appears roughly twice as often as the second most common word, roughly three times as often as the third most common word...etc.  In English the  accounts for 7 percent of words, of  for about half that, and a third of that."

"Because of the parallels between DNA and language, scientists can even analyze literary texts and genomic 'texts' with the same tools. These tools seem especially promising for analyzing disputed texts...the scientists delved into the contentious world of Shakespeare scholarship, and their software concluded that the Bard did write The Two Noble Kinsmen...but didn't write Pericles, another doubtful work." 

"mtDNA opened up whole new realms of science as well, like genetic archeology.  ...because scientists know how quickly any rare changes do accumulate in a mitochondrial line - one mutation every 3,500 year - they can use mtDNA as a clock: they compare two people's mtDNA, and the more mutations they find, the more years that have passed since the two people share a maternal ancestor.  In fact, this clock tells us that all seven billion people alive today can trace their maternal lineage to one woman who lived in Africa 170,000 years ago, dubbed 'Mitochrondrial Eve.'  Eve wasn't the only woman alive then, mind you.  She's simply the oldest matrilineal ancestor of everyone living today." 

In his notes, the author also recommended Nine Who Survived Hiroshima and Nagasaki by Robert Trumbull and Mendel's Legacy by Elof Axel Carlson.  This one is a keeper!


Published: 2012  Read: May 2018  Genre: Science

Inheritance – Sharon Moalem

Sub-title: How our genes change our lives and our lives change our genes

I got this book as a Christmas present, I think, it feeds my obsession with genealogy and DNA.  The author is an MD specializing in rare genetic and metabolic diseases.  He makes a case for studying these conditions, not only to help the patient, but as a means of discovering information that can be applied more broadly.  Of particular interest to me, is the explanation of genetic expression and epigenetics.

Genetic expression is the concept that while we may inherit a gene related to a specific disease or condition, the degree to which that disease or condition are manifest is determined by extent our genes articulate the effect.  In short, some people carrying a gene may get the related disease and others not and even others to varying intensity.

Epigenetics is the newer science examining the effect of our lifestyle and events on our genes.  Traumatic experiences of a mother as well as her diet can affect her unborn child.  There are studies that found children of parents who has experienced starvation before having children can still pass on genetic impacts.  The author defines it as “the study of changes in gene expression that result from life conditions”. 

One anecdote I enjoyed was about Dr. John Kellogg, considered a health guru in his lifetime, he lent his name to the brand.  He was an advocate for whole body vibration, or shaking the sickness out of his patients using vibration therapy.  While discredited in the past, now vibration therapy is being advocated for patients with osteoporosis because it could possibly activate the gene expression that breaks down and builds up bone.

The book provides several case studies of rare diseases that are genetically related and gets repetitive in the telling of the stories.  An interesting read with food for thought.

Published:  2014 Read:  June 2018   Genre: Science, Medicine

It's All Relative - A J Jacobs

Subtitle: Adventures Up and Down the World's Family Tree

What a great Christmas gift from my step daughter!  Genealogy and a good story - what's not to like?  The author stumbles into his family genealogy and then decides to host the largest family reunion ever.  The friendships he forms and the people he meets on his journey are funny, touching and oh so real.  We really are one big family!

Some quotes I flagged:

"...writer Andrew Solomon has a different language.  He talks about the 'horizontal family' (who share your passion or worldview or condition) and 'vertical family' (parents, kids, grandparents, etc.)."

"Yaniv Erlich...a geneticist at Columbia University...crunched the data from 13 million Geni relatives to figure out patterns of migration.  ...on YouTube [he has] time-lapse animation showing how humans have spread out onto all continents." 

"The Ancestor's Tale by Richard Dawkins...taught me a new word: concestor.  This is the common ancestor linking two species."

"Luca stands for Last Universal Common Ancestor". 

Published:  2017  Read: February 2018  Genre: Genealogy, non-fiction