Full Description
HIGHLY COMMENDED IN THE 2016 BMA MEDICAL BOOK AWARDS!
Instructors' comments on new, 3rd edition:
"I LOVED the book. I've never seen anything like it,
and I've reviewed a lot of genetics texts. The way that cases are presented
throughout is extremely novel."
"I am greatly pleased with the revisions. In my
opinion, there is an increased clarity in the text (which will serve students
well), and many welcomed updates based on current literature. Good job!"
"I LIKE IT A LOT!!"
"The book looks good and we will certainly be recommending
it for our medical genetics course this autumn."
"This is a fantastic book that I enjoy so much teaching
from."
"I have been reviewing the book. I think it is a great
teaching tool since you can follow a case from beginning to end."
"I have used this book every year since the first edition
was published and it is a perfect fit for my human genetics course. I
will definitely continue to use it."
"It's great. I will recommend the book as a main text for
the medical student class."
In the few years since
the previous edition technical progress, especially the widespread use of
whole-genome technologies, has brought many advances in the understanding,
diagnosis and treatment of genetic disease. As a result, most chapters have
been substantially rewritten and updated to reflect this. The unique structure
and format remains the same, but significant new material has been added to
cover:
the widespread use of next-generation sequencing as a routine diagnostic tool
the checking of a patient's whole exome for the cause of their problem
noninvasive prenatal diagnosis by next-generation sequencing of free fetal DNA in the maternal circulation
a new integrated treatment of epigenetics
mosaicism, 'RASopathies' and disorders of the spliceosome are described in new Disease boxes
dysmorphology in more detail
New Clinical Genetics continues to offer
the most innovative case-based approach to modern genetics. It is used
worldwide as a textbook for medical students, but also as an essential guide to
the field for genetic counselors, physician assistants, and clinical and nurse
geneticists.
Reviews of earlier editions:
"This book provides a
wonderful case-based learning environment. There are also self-assessment
questions. Students are not given model answers but are provided with guidance
on how to work out the correct answers for themselves. Excellent!"
Human Genetics
"This book is a very valuable tool that will be
used by future geneticists all over Europe and beyond, both as a teaching
material and as a source of excellent knowledge."
European Journal of Human
Genetics
Contents
1. What can
we learn from a family history?
2. How
can a patient's chromosomes be studied?
3. How do genes work?
4. How can
a patient's DNA be studied?
5. How can
we check a patient's DNA for gene mutations?
6. What do mutations do?
7. What
is epigenetics?
8. How do genes affect
our metabolism, drug responses and immune system?
9. How do researchers identify genes for
mendelian diseases?
10. Why are some conditions
common and others rare?
11. When is
screening useful?
12. Is cancer
genetic?
13. Should we be testing for
genetic susceptibility to common diseases?
14. What clinical services are available for families with genetic disorders?
Guidance for self-assessment questions
Glossary
Index
