Thalassemia exists in 280 million people globally, with 439,000 having the severe form. It caused 16,800 deaths in 2015, worldwide. It is found among South Asian, Italians, Middle Eastern, Greeks and Africans. However, there has been a remarkable decline in fatalities. There were 36,000 deaths in the year 1990. Modern technologies such as Big Data are aiding in the control of the disease.
Thalassemia is an inherited blood disorder characterized by abnormal hemoglobin production. Symptoms of the disorder vary from none at all to severe. Generally, mild to severe anemia (low red blood cells) results. It can result in spleen and bone problems, yellowish skin, dark urine, and slow growth among children. Monogenic diseases such as thalassemia are the result of a mutation in a single gene. Although complex diseases such as diabetes are influenced by a host of genes, mutations and interactions in biological pathways.
Big Data solving the genome conundrum
There has been an explosion of ‘Big Data.’ Basically huge quantities of data that cannot be analyzed using conventional mathematical and statistical tools. The huge volumes of data is also due to recent advances in DNA-sequencing technology and drop in DNA sequencing costs. These factors have aided in the massive accumulation of unexplored biological and medical knowledge for treatment of diseases such as thalassemia.
This biological data can transform hypothesis-driven to data-driven research. Big medical data can open up new avenues for investigation into unexplored information embedded in genomes. However, for that to happen, new and more sophisticated Big Data Analytics tools need to be developed to focus on analyzing genome-wide screens and scans for human genes.
Medical data is of no use without Data Analytics
One of the problems scientific researchers face is the information coming from all directions is voluminous and diverse. With increasing numbers of patients submitting genome for studies, size of data set is exploding. Additionally, there are thousands of articles as well as publications, reports, gene mapping, opinion pieces, etc. There are studies apart from databases. Genomic screens and scans throw up results for 20,000 human genes. Also, with the development of high-speed and high-accuracy devices there is a data tsunami facing thalassemia research.
However, the Big Data potential cann’t be realized till there are tools for integration and analysis of data from sources. ‘Big Data’ management and Analytics needs development of suitable software, tools and methodology.
“Modern age Big Data Analytics tools do just that. These allow researchers to conduct run through millions of research papers and genetic sequencing data, high-speed analysis, as well as go through numerous treatment records throughout the world, getting deeper insights into how to treat a patient having a specific blood group, DNA sequence or characteristic,” said Shashank Dixit, CEO, Deskera, a global cloud provider that has developed Big Data tool.
Moreover, doctors can analyze how patients with specific genes respond to treatments, compare patients against previous occurrences and take decisions based on facts, and not judgment. Additionally, they provide access to interactive educational library featuring live streams, volumes of research and in-house points of view, training courses, virtual reality, and augmented reality productions.
Bioinformatics and Big Data are working in tandem
Bioinformatics is emerging as a new front for mankind’s battle against disease with integration of statistical analytics, biological techniques and information technologies to translate basic genetic, cellular, molecular, and clinical data into applications to fight diseases. Efficient tools of analysis help in better understanding diseases particularly complex ones as well as the development of preventive, predictive, and personalized therapeutics and diagnostics.
Let’s hope such medical advances help in controlling the disease this World Thalassemia Day.