Showing posts with label genes. Show all posts
Showing posts with label genes. Show all posts

Saturday, August 12, 2023

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

Sunday, August 7, 2022

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

Tuesday, June 12, 2018

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