This is a book of real stories about the search for genomic spelling errors that have stark consequences: infants who pass away mysteriously, siblings with misplaced organs, a family with several instances of vision loss, sisters whose hearts fail in the prime of their youth, a boy whose blood can’t carry enough oxygen, a baby with cancer in the eye, a middle-aged patient battling cancer, and the author’s own color blindness. The search in each case proves to be a detective quest that connects the world of medical practice with that of molecular biology, traversing the world of computer algorithms along the way.
How it came about?
Rarely does one experience the exhilaration of exploring the unknown, knowing fully well the immediate human consequence of this exercise. Such was our experience at Strand when we sequenced the Genomes of individual patients to identify the one or two characters among their six billion that lay at the root of their affliction. The process was complex, but the ground it covered was fascinating. Fascinating enough that we felt it was a story worth telling—a story of frequent huddles, frustrating roadblocks, ecstatic aha moments, biological enigmas, medical dilemmas, and mind-bending computer algorithms. We picked nine cases from our practice that took us to different corners of this genomic universe, each with a distinct medical complication caused by a distinct genomic aberration, which often needed a distinct line of attack to uncover. It took four years of writing and rewriting to get this book to final form. Hopefully, these stories, which package scientific detail within an engaging narrative, will give you a glimpse into the fascinating world hidden inside each of us that makes, or sometimes, breaks, us
Reviews and Mentions
This book is a masterpiece of genomic science that thrills like a detective novel. It's such a readable book that after you're done, you finally have one you can tell your family and everyone you know to read, saying, "these are the fantastic things going on in my field."!
The best book I have read this year so far -- I was literally sad every time I had to put it down to do something else.
I work in the genomics field and was worried that the book would just cover ground that I already knew. But I learned a great deal. Ramesh details 9 cases that he and his team have worked on and eventually solve. He paints a really clear picture of what it takes to diagnose some of these mysterious diseases. He also explains the biology of the affected organ or system really well.
Working together, the nine stories in Genomic Quirks make an engaging introduction to how genomics is changing modern medicine.
An interview on Genomic Quirks makes it to the five most clicked through podcasts of 2018 on Mendelspod.
Genomic Quirks makes it to the top 15 in the 41 Best Genomics Books of All Time list on BookAuthority.
About the Author
Ramesh Hariharan is a computer scientist, bioinformatician, and entrepreneur. This book was written when he was the Chief Technology Officer at Strand Life Sciences, and an Adjunct Professor at the Indian Institute of Science (IISc). Strand Life Sciences was founded in the year 2000 as a spin-off from IISc by Ramesh and three colleagues who were fascinated by the use of computer algorithms in biology and medicine. The stories in this book come from first-hand experience at Strand. Ramesh is a fellow of the Indian Academy of Sciences and the Indian National Academy of Engineering.
A unique collaboration between IIScPress and Strand Life Sciences
The Indian Institute of Science Press
The Indian Institute of Science Press is associated with the Indian Institute of Science, Bangalore. It publishes collected works of distinguished scientists, research monographs, textbooks, biographies, popular science books, and general books.
Strand Life Sciences
Strand Life Sciences is a spin-off from the Indian Institute of Science that uses genome sequencing and data analytics to help diagnose genomic disease and drive biology research.
How to Buy?
For multiple reasons (cost, ease of shipping, saving paper), we recommend the eBook, which is available from Amazon (the Kindle Version). Note that you don't really need a Kindle to read the Kindle version; the Kindle app for most tablet, phone and PC devices is freely available and you will be able to read the eBook from any device with the Kindle app installed after logging into your Amazon account.
Of course, if you'd prefer the paper version, spot and click on the paperback or hardcover boxes next to the Kindle box in the Amazon links below. if Amazon indicates that it needs substantial time to dispatch, do check the other used and new choices available from various vendors; some of these may deliver promptly.