Book on genomic spelling errors launched

Clinical, Genomic

“Genomic Quirks: The Search for Spelling Errors”, a book authored by Dr Ramesh Hariharan, was launched in Indian Institute of Science, Bengaluru. The book shares real stories about instances of genomic spelling errors with serious consequences: infants passing away mysteriously, siblings with misplaced organs, several instances of vision loss in a family, hearts of sisters which failed in the prime of their youth, instance of a boy whose blood couldn’t carry enough oxygen, a baby with eye cancer, middle-aged patient battling cancer and own colour blindness of the author. Each case proves to be a quest that connects the world of medical practice with that of molecular biology powered by computer algorithms.

Dr Rajani Battu, Medical Director, Centre for Eye Genetics and Research, said, “The book is a must read not only for medical students but for anyone who has an interest to understand genetics.  Ramesh was one of the first person with whom I collaborated to do genetic analysis for some of my patients. He convinced me to critically review his book. But as I started to read the book, I was pleasantly surprised.  This was not a monologue like any other genetic book. The book is filled with anecdotes which make it very interesting to read. The book simplified my understanding of Genetics. I would recommend this book, not only to the doctors and clinicians but even to high school graduates owing to its simplicity.”

Speaking about his book, Dr Hariharan said, “This book is about taking a patient, sequencing their DNA and getting to the root cause. The diligence involved behind the entire process was the story never told. There is a variety of medical issues, the genomic cause of which one is trying to study. There are so many different types of things that can happen in a DNA. In order to get to the solution, there are so many different algorithms that are needed and illustrating all of those in a few broad strokes was the ultimate goal of the book. So we picked up 9 cases that I have penned in the book. The book focuses on the simplest of the starting point which is the area where you can pin things down to one single location in the DNA and that itself has a lot of complexities.”

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