Translational research in genetics and genomics / Moyra Smith.

Format:

Book

Author/Creator:

Smith, Moyra, author.

Series:

Oxford scholarship online.

Oxford scholarship online

Language:

English

Subjects (All):

Medical genetics.

Genomics.

Genetics, Medical.

Genetic Diseases, Inborn.

Medical Subjects:

Genetics, Medical.

Genetic Diseases, Inborn.

Genomics.

Physical Description:

xiv, 220 p. : ill.

Edition:

1st ed.

Place of Publication:

Oxford : Oxford University Press, 2023.

Language Note:

English

Summary:

In this new book, noted geneticist and veteran OUP author, Moyra Smith, present a comprehensive critical review of the translation of genetic and genomic research into health care. Dr. Smith's motivation for writing is driven by the gap that exists between the rather amazing discoveries in medical genetics and genomics at basic science levels and the translation to disease management in single gene disorders, specific genetic syndromes, and complex genetic diseases. She also examines information technology in genetic medicine, sociocultural factors that impact provision of medical care, and medical education issues with regard to translational genetics in order to help prepare a work force that is better able to utilize evidence-based medicine and to accomodate the rapid changes in genetic and genomic health care.

Contents:

Intro

Contents

1. Isolation of Disease Genes Through Genomics

2. Advances in Genome Analysis: Discovery of Structural Variation and Genomic Dosage Differences in Health and Disease

3. Significance of DNA Sequence Changes for Diagnosis and Therapy

4. Epigenetics

5. Complex Diseases: Molecular Genetic Contributions to Elucidation of Etiopathogenesis of Late-Onset Neurodegenerative Diseases

6. Advances in Treatment of Single Gene Disorders Through Translational Science: Treatment With Small Molecules (Chaperones) and Gene-Based Therapies

7. From Gene Discovery in Genetic Syndromes to Identification of Therapeutic Agents

8. Impact of the Environment on the Genome

9. Molecular Defects in Cancer: Application to Therapy

10. Pharmacogenetics and Pharmacogenomics

11. Phenomes, Phenotypes, and Clinical Genetic Services

References

Index

A

B

C

D

E

F

G

H

I

J

K

L

M

N

O

P

R

S

T

U

V

W

X

Y.

Notes:

Previously issued in print: 2008.

Includes bibliographical references (pages 179-206) and index.

Derived record based on print version record and publisher information.

ISBN:

0-19-029531-7

0-19-770912-5

1-282-54418-7

9786612544187

0-19-971834-2

OCLC:

923713913