
In 1604, Felipe Monje Merino arrived in the New World with dreams of conquest but eventually settled in Cartago, Costa Rica, marrying Francisca López and having two children. Six generations later, three descendants with the surname Monge experienced late-onset deafness, despite being born with normal hearing. This deafness, starting with low-frequency loss, is caused by a dominant genetic mutation resulting from a single-letter change in a gene called human diaphanous 1, which regulates the actin cytoskeleton of hair cells in the organ of Corti, responsible for sensing sound vibrations. The book recounts the search for this mutation and its discovery, achieved through collaboration between the Monge family and scientists from Costa Rica and the USA.
Figures ......................................................................................................... 11
Preface and acknowledgements ......................................................... 13
Chapter I. A grand old family ................................................................ 15
1.1. Deafness in the Monge family ...................................... 15
1.2. How to grow a family tree ............................................ 18
1.3. How the research began ............................................. 22
1.4. Searching for the common ancestor ............................ 30
1.5. Cartago in colonial days .............................................. 34
1.6. A Gift from Kansas ...................................................... 38
1.7. The Monge family deafness may be unique ................. 40
1.8. Where do names come from? ..................................... 41
1.9. Family heroes… .......................................................... 42
1.10. Social Consequences of the Hearing Loss ................ 45
Chapter 2. The power of language .................................................... 47
2.1. Spiral of hearing loss ................................................... 47
2.2. The Sound of Silence .................................................. 49
2.3. Following a sound wave .............................................. 51
2.4. The Evolution of the Human Ear .................................. 60
10 Journey into silence
2.5. The Long Trip to the Cerebral Cortex ........................... 64
2.6. The Gift of Human Language ....................................... 68
Chapter 3. The genetic history of the family .................................. 75
3.1. A Short Story of Genes ................................................ 75
3.2. Gene mapping the classical way ................................. 84
3.3. The road to Berkeley and Mary-Claire .......................... 88
3.4. Then came Jetty, Jan and Eric ..................................... 93
3.5. A walk up Parnassus Avenue .................................... 100
3.6. Eric catches a fly gene ............................................... 104
3.7. Splicing out of the box ............................................... 107
3.8. An unplanned experiment .......................................... 110
3.9. Surfing the Web ........................................................ 113
Chapter 4. Thou shalt never cease from exploration… ................ 121
4.1. What did we learn? ................................................... 121
4.2. Family reactions ........................................................ 124
4.3. To sign or not to sign: the right to choose .................. 126
4.4. The Road from Genetics to Ethics ............................. 133
4.5. Waiting for the Golden Age ........................................ 137
References ............................................................................................... 143
Literature cited ..................................................................................... 153
Especificaciones por formato:
ISBN-13: 9789977665696
Idioma del texto: Inglés
Número de edición: 1
País de publicación: Costa Rica
Año de publicación: 2017
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