Bioinformatics and data services

Bioinformatics and data services

 

Bioinformatics 3Bioinformatics is an exciting and relatively new field of science, encompassing the branch of life science that applies information technology to the field of biology to help understand various biological processes.


It's all about data, and lots of it.

 

 

The primary goal of bioinformatics is to increase the understanding of biological processes.

 

For a number of years, researchers at the Telethon Institute have been using microarray technology to rapidly screen thousands of genes at the same time.  

 

These microarray experiments take a snapshot of every gene in a particular cell or tissue and measure their expression levels, in some cases generating data for over 20,000 different genes.  


It's important information that helps researchers study a range of different childhood diseases, including asthma and allergy, leukaemia and brain tumours.  

 

Bioinformatics 1

But the challenge has been to combine this vast amount of biological data so that researchers can form a comprehensive picture which may help to unlock why, for example, some cells become cancerous or why the immune cells from allergic people hyper-react to harmless proteins.

 

Distinct from other approaches, Bioinformatics focuses on developing and applying computationally-intensive techniques (for example: pattern recognition, data mining, machine learning algorithms, and visualization) to achieve this goal.

 

Major research efforts in the field include:

 

  • sequence alignment
  • gene finding
  • genome assembly
  • drug design & discovery
  • protein structure alignment & prediction
  • prediction of gene expression and protein-protein interactions
  • genome-wide association studies and
  • the modeling of evolution

 

Bioinformatics 2
Bioinformatics involves the creation and advancement of databases, algorithms, computational and statistical techniques and theory to solve formal and practical problems arising from the management and analysis of biological data.

Common activities in bioinformatics include:

  • mapping and analyzing DNA and protein sequences
  • aligning different DNA and protein sequences to compare them and
  • creating and viewing 3-D models of protein structures

 

Read more about Bioinformatics at the Telethon Institute

 

Bioinformatics:

Nick de Klerk, Head of Bioinformatics
Kim Carter, Senior Bioinformatics Fellow
Richard Francis, Senior Bioinformatician

 

Data Services:

Girard Good, DBA Analyst Programmer
Hoan Nguyen, DBA Analyst Programmer

 

IT:

Mark Calleja, Head of IT and Data Services

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    Kawasaki disease results from an abnormal immunological response to one or more infectious triggers. We hypothesised that heritable differences in immune responses in Kawasaki disease-affected children and their families would result in different epidemiological patterns of other immune-related conditions. We investigated whether hospitalisation for infection and asthma/allergy were different in Kawasaki disease-affected children and their relatives.  Read more
  • Promoter polymorphisms in two overlapping 6p25 genes implicate mitochondrial proteins in cognitive deficit in schizophrenia
    In a previous study, we detected a 6p25-p24 region linked to schizophrenia in families with high composite cognitive deficit (CD) scores, a quantitative trait integrating multiple cognitive measures.  Read more
  • Integrated Analysis of miRNA and mRNA Expression in Childhood Medulloblastoma Compared with Neural Stem Cells
    Medulloblastoma (MB) is the most common malignant brain tumor in children and a leading cause of cancer-related mortality and morbidity. Several molecular sub-types of MB have been identified, suggesting they may arise from distinct cells of origin.  Read more
  • Significant Association between Common Polymorphisms in the Aromatase Gene CYP19A1 and Bone Mineral Density in Postmenopausal Women
    17β-Estradiol is important in maintaining bone structure, and regulation of its synthesis plays an important role in the development of postmenopausal osteoporosis. We and others have demonstrated associations between variation in the CYP19A1 gene (encoding aromatase) and areal bone mineral density (aBMD) phenotypes in women.  Read more
  • Interactions between acute lymphoblastic leukemia and bone marrow stromal cells influence response to therapy
    The cure rate for pediatric patients with B precursor acute lymphoblastic leukemia (pre-B ALL) is steadily improving, however relapses do occur despite initial response to therapy.  Read more

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