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Investigating the Human Genome: Insights into Human Variation and Disease Susceptibility (FT Press Science), by Moyra Smith
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Leading medical genetics scholar Moyra Smith reviews current and recent work in genetics and genomics to assess progress in understanding human variation and the pathogenesis of common and rare diseases in which genetics plays a role. Smith provides an exceptional overview of the most important biomedical progress arising from the greatly increased genetic information base generated by gene mapping and the sequencing of the complete Human Genome.
This book addresses into a wide spectrum of topics associated with human genetics and genomics, including:
- Human origins; migrations and human population diversity gained though genomic analyses.
- The complexities of psychiatric diseases that are influenced by genetics.
- The pathogenesis of late-onset neurological diseases such as Alzheimer’s, Parkinsonism, and ALS.
- Key aspects of protein misfolding.
- Gene-environment interactions in DNA damage and repair and DNA instability.
- Micro RNAs and mRNA translation.
- Epigenetics.
- New functions for old enzymes in cancer.
- Sales Rank: #2516720 in Books
- Published on: 2011-06-19
- Original language: English
- Number of items: 1
- Dimensions: 9.24" h x .96" w x 6.20" l, .90 pounds
- Binding: Hardcover
- 224 pages
From the Back Cover
An Up-to-Date Assessment of Recent Advances in Human Genetics, Human Variation,and Gene-Related Disease
In Investigating the Human Genome, leading medical genetics scholar Moyra Smith reviews current and recent work in genetics and genomics to assess progress in understanding human variation and the pathogenesis of common and rare diseases in which genetics plays a role.
Smith provides an exceptional overview of the most important biomedical progress arising from the greatly increased genetic information base generated by gene mapping and the sequencing of the complete Human Genome. She addresses diverse topics associated with human genetics and genomics, ranging from psychiatric and late-onset illness to early human history.
Coverage includes
• Genetic research on human origins, migrations, and population diversity
• Genome architecture and sequence variation in health and disease
• Genes, transcripts, and regulation at multiple levels
• Modifications via epigenetics and epigenomics
• Phenotypes, phenocopies, pathways, and interactions
• Key issues of protein misfolding
• Gene-environment interactions in DNA damage, instability, and repair
• Synaptic activity and plasticity, and relevance to cognitive impairment and behavioral abnormalities
• Micro RNAs and mRNA translation
• Late-onset neurodegenerative diseases: Alzheimer’s, ALS, and Parkinson’s
• Genes, cancer, signaling pathways, and targeted therapies
• Functional genomics and personalized medicine
About the Author
Moyra Smith is Professor of Pediatrics and Human Genetics at the School of Medicine at University of California, Irvine. A leading scholar in her field, she has served as an editor of McKusick’s classic “Red Book,” Mendelian Inheritance in Man. Smith’s monographs in the Oxford Series on Human Genetics include Mental Retardation and Developmental Delay: Genetic and Epigenetic Factors (2005), Translational Research in Genetics and Genomics (2008), and Phenotypic Variation: Exploration and Functional Genomics (2011).
Most helpful customer reviews
4 of 4 people found the following review helpful.
ONLY FOR THE ALREADY BRILLIANT
By Michael Demeritt
ONLY FOR THE ALREADY BRILLIANT
Investigating the Human Genome was initially pitched to me in this way:
"Leading medical genetics scholar Moyra Smith reviews current prospects and progress in medical genetics and genomics, arising from the growth of gene mapping and Human Genome sequencing. She addresses recent investigations into human origins, migrations, and diversity; psychiatric diseases; Alzheimer's, Parkinsonism, and ALS; protein misfolding; gene-environment interactions; mRNA; epigenetics, and much more."
As I have always had an interest in medical sciences, genetics and epigenetics intrigue me, I thought this could be a good read for a greater insight into the human genome. The preface seemed to support that feeling too; "Progress in the fields of genetics and genomics since a draft sequence of the human genome was published in 2001 is indeed a cause for optimism. However, this discovery has left some people disappointed because development of new therapies to treat disease has been slower than anticipated." The one and a half page preface really fired me up to see what Moyra Smith had to say, breaking down the discoveries she was going to update us all on in the chapters to come.
I give you these quotes to warn you, this book is not what is appears to be on the surface. It is not an intellectual update for the common reader on the latest and greatest events into human variation and disease susceptibility knowledge. Mind what I am saying, it is all these things but one, it is not meant for the common reader. No doubt this is a brilliant text, but I give you a simple measure to adjudicate if the book is for you, the second paragraph of chapter one:
"Studies of variation in the human genome are greatly facilitated through the availability of microarrays designed to detect single nucleotide polymorphisms (SNPs) that occur with frequencies greater that 1% to 5% in the population. Gene loci that are close to each other are often coinherited. SNP analyses can determine a series of alleles of loci in a specific region (a haplotype). Microarray technologies enable analysis of as many as one million SNPs on each array. These microarrays can also determine structural variation and copy number changes, defined as deletion or duplications greater than 1 kilobase (kb). Specific probes for regions known to frequently harbor copy number changes are also present on SNP microarrays such as the Affymetrix 6.0 array. Advances in technologies in DNA sequencing include massively parallel sequencing, often referred to as next-generation sequencing."
None of these terms are ever defined. If you don't already know what a microarray, nucleotide polymorphisms, gene loci, alleles, kilobase, and an Affymetrix 6.0 array is right now, you will not know what they are when you are done reading this book. I muddled through much of it, because I keep up a little on this field because my daughter studies biology at Allegheny University. I gave the book to her and she said "This is hard material, dad, but really interesting." Okay - she's just a freshman, but a student of the field finds the material hard, a casual reader hoping to glean information from this book is in deep water without a life preserver.
I think the book may be brilliantly written, but the language is so coded, I really can't tell. The audience, however, is EXPERIENCED ACADEMICS- while the pitch suggests a more casual relationship is all that is required. Improperly promoted, this book is going to have many more misses than hits. It belongs in the "For Scholars by Scholars" category. Vey narrow bandwidth here. Simple test is this, if that paragraph above makes total sense to you, pick up this book. If it seems even a bit confusing or over your head - hey, that was just the warm-up intro - the real technobabble is yet to come.
3 of 3 people found the following review helpful.
Makes me want to become a geneticist
By WhereWaldoFindsHimself
If you're not a geneticist, this book may not be for you. Still, the topic is so interesting that I couldn't help myself and went ahead and got it. When I want to learn something I can be a stubborn cuss - good thing, as this is a difficult read. Yet I feel like a miner sifting through chunks of unidentifiable information to find bits of gleaming gold revelations.
Sentences such as "He proposed that dendritic gamma wave synchrony moving through the brain constitutes a vehicle for consciousness." makes my heart go pitty-pat with excitement. This book is filled with such wonders on such important topics as Autism and Alzheimer's Disease.
If you're not a geneticist, but like me, you can decipher some of these amazing new research results, it may make you decide to become one. If I were younger (or someone would front me a mound of scholarship money) I'd love to dive into this field as it races into the future to help us solve so many problems from our past.
I learned that not only is "Fragile X mental retardation protein" a good thing, if deficient it can cause all sorts of problems in the downstream synthesis of a number of proteins. People concerned about autism should come to understand what that means. Lots of gold nuggets in this mine - lots of them!
3 of 3 people found the following review helpful.
dry
By reviewer
As a science major, the subject is of great interest to me. But I must say the book is dry. While the book represents quite an elaborate research of the subject, its presentation lacks organization and aggregation and is very dry. If you were a laymen wanting to learn more about the subject, I would suggest you skip the book.
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