Chapter title |
A Mini-Review: Leber Congenital Amaurosis: Identification of Disease-Causing Variants and Personalised Therapies
|
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Chapter number | 32 |
Book title |
Retinal Degenerative Diseases
|
Published in |
Advances in experimental medicine and biology, January 2018
|
DOI | 10.1007/978-3-319-75402-4_32 |
Pubmed ID | |
Book ISBNs |
978-3-31-975401-7, 978-3-31-975402-4
|
Authors |
J. A. Thompson, J. N. De Roach, T. L. McLaren, T. M. Lamey, Thompson, J. A., De Roach, J. N., McLaren, T. L., Lamey, T. M. |
Abstract |
Leber congenital amaurosis (LCA) encompasses a group of severe inherited retinal dystrophies (IRDs) responsible for early childhood blindness. There are currently 25 genes implicated in the pathogenesis of these diseases, and identification of disease-causing variants will be required for personalised therapies. Whole exome and whole genome sequencing is informative for detecting novel disease-causing genes, whilst next-generation sequencing has excelled at detecting novel variants in known disease-causing genes.A global effort will be required to identify patient populations for early intervention. At the Australian Inherited Retinal Disease Registry and DNA Bank, we seek to identify genetic variants in individuals with IRDs in the Australian population to identify potential candidates for clinical trials, to inform clinical management of patients including reproductive options and to expand existing knowledge of IRDs.Due to the diversity of genes implicated, personalised strategies are likely to be the benchmark for treating these diseases, and a combined approach of different therapies may be optimal in treating some of these diseases. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 18 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 3 | 17% |
Student > Doctoral Student | 2 | 11% |
Unspecified | 1 | 6% |
Student > Ph. D. Student | 1 | 6% |
Student > Master | 1 | 6% |
Other | 2 | 11% |
Unknown | 8 | 44% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 3 | 17% |
Medicine and Dentistry | 2 | 11% |
Unspecified | 1 | 6% |
Nursing and Health Professions | 1 | 6% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 6% |
Other | 2 | 11% |
Unknown | 8 | 44% |