Indian Pediatrics 2007; 44:881
Genetics for Clinicians
Editor: Shubha Phadke. Bangalore. PRISM Books Pvt. Ltd, 2007. Pages 321, Rs. 450/-
I came across this book and read it like a storybook, because itís written in such a manner that it was like a continuous flow of knowledge. Dr Shubha Phadke wanted to generate interest in the field of genetics, particularly for clinicians. I am sure she has done a wonderful job.
The book consists of 4 sections: (1) Introduction to medical genetics; (2) Genetic disorders; (3) Techniques in medical genetics; and (4) Diagnosis, treatment and prevention of genetic disorders.
Dr. Shubha begins with history, from Dr. Gregor Mendel (1865) and travels up to Celera Genomics in the year 2000. While doing so, she does not forget scientists like Walleye, Bateson, Winker, Smith Orkin & Collins and the terms coined by them like Recessive and Dominant, Chromosome, Genome, Dysmorphology, Reverse Genetics & Positional Cloning Proteomics and Pharmacogenomics respectively.
The first hurdle for clinicians is to draw a pedigree chart. Dr. Shubha has made it so easy for clinicians, that half the battle is won. She also explains about introns, exons and locus controlling regions in a lucid way. Very simply she puts transcriptions, translation & genetic code in a very elementary way. I was really amused to read some terms like housekeeping genes, Pseudogenes, Satellites, Mini satellite DNA, Microsatellite DNA & about SINES and LINES.
The highlight of the book is a chapter on metabolic disorders. I have never come across a book describing the complex Inborn errors of metabolism in such a simplistic way. This chapter, I feel, will really remove the IEM phobia from the minds of postgraduates.
Such a wonderful book, written in simple language with methodical presentation qualities is a must, not only for postgraduates but for all Pediatricians.