Reach Us +1-217-403-9671
Disease Specific Databases For Personalized Medicine: Fabry Disease As A Case Of Study | 56794
ISSN: 0974-276X

Journal of Proteomics & Bioinformatics
Open Access

Like us on:

OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations
700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

7th International Conference on Proteomics & Bioinformatics

Maria Vittoria Cubellis
University of Naples, Italy
ScientificTracks Abstracts: J Proteomics Bioinform
DOI: 10.4172/0974-276X.C1.091
Next generation sequencing of all exons will become common for symptomless people in the near future. Since we all have approximately 20000 variants, differentiation among non-pathological, mild or deleterious mutations will be necessary. We will show how disease specific databases and predictive tools can be precious for personalized diagnosis and therapy. The analysis of sequence conservation among orthologous proteins, even in the absence of structural information on the human protein can be sufficient to identify severely pathological mutations, but training sets represent the weak point in the development of prediction tools. At present, more than 70000 missense mutations have been reported with seven variants per protein on average but at least 70 cases more than 100 variants are known. A quantitative phenotype can be associated to mutants measuring the residual activity or the stability of proteins expressed by transient transfection. In this case, it can be possible to predict the severity of the mutation quantitatively. This implies that in many cases it is possible to develop disease specific predictive tools. Lysosomal alpha galactosidase which is associated to Fabry disease represents a good case to test the effectiveness of specific tools that allow predictions scored according to severity. More than 380 missense mutations are known and for 305, the residual activity in cells has been assessed. For the deficiency of lysosomal alpha galactosidase, disease specific predictive tools can also be exploited to estimate responsiveness to specific drugs such as pharmacological chaperones.

Maria Vittoria Cubellis completed her graduation in Chemistry from the University of Naples and PhD in Biochemistry. She is a Professor of Biochemistry and Bioinformatics at the University of Naples Federico II. Her recent research interests are focused on “Pharmacological chaperones for the treatment of rare diseases and in particular on the prediction of mutations associated to Fabry disease which are responsive to drugs”. She is also trying to extend the approach with pharmacological chaperones to other pathologies, such as disorder of glycosylation type 1a, a disease for which there is no cure at present.

Email: [email protected]

image PDF   |   image HTML

Relevant Topics

Peer Reviewed Journals
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2018-19
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

Business & Management Journals


[email protected]

1-702-714-7001Extn: 9042

Chemistry Journals

Gabriel Shaw

[email protected]

1-702-714-7001Extn: 9040

Clinical Journals

Datta A

[email protected]

1-702-714-7001Extn: 9037

Engineering Journals

James Franklin

[email protected]

1-702-714-7001Extn: 9042

Food & Nutrition Journals

Katie Wilson

[email protected]

1-702-714-7001Extn: 9042

General Science

Andrea Jason

[email protected]

1-702-714-7001Extn: 9043

Genetics & Molecular Biology Journals

Anna Melissa

[email protected]

1-702-714-7001Extn: 9006

Immunology & Microbiology Journals

David Gorantl

[email protected]

1-702-714-7001Extn: 9014

Materials Science Journals

Rachle Green

[email protected]

1-702-714-7001Extn: 9039

Nursing & Health Care Journals

Stephanie Skinner

[email protected]

1-702-714-7001Extn: 9039

Medical Journals

Nimmi Anna

[email protected]

1-702-714-7001Extn: 9038

Neuroscience & Psychology Journals

Nathan T

[email protected]

1-702-714-7001Extn: 9041

Pharmaceutical Sciences Journals

Ann Jose

[email protected]

1-702-714-7001Extn: 9007

Social & Political Science Journals

Steve Harry

[email protected]

1-702-714-7001Extn: 9042

© 2008- 2018 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version
Leave Your Message 24x7