Understanding Genetic Diseases with Bioinformatics


Since the beginnings of the Human Genome Project, scientists have promised that knowledge of all of our genes would enable a deeper understanding of heritable diseases, a promise currently being fulfilled using bioinformatics approaches. Millions of dollars of research have been spent on finding protein-coding genes, our place in molecular evolution, and polymorphic variations—differences in DNA between members of a population—that are commonly found in patients with a disease but not in healthy individuals. In such projects, groups of patients and healthy participants have their DNA analysed, looking for variations between their DNA sequences. After statistical analysis, changes in the DNA sequence that commonly appear in the patients but rarely in the healthy participants are associated with the disease of interest, and may be the causes of the disease. These genome-wide association studies have discovered thousands of polymorphisms associated with dozens of diseases using sophisticated programming and statistics [6]. It should be noted though that these are merely statistical associations with diseases, and that these research projects usually do not interrogate the whole genome. In addition, understanding of the functions of these polymorphisms is still wanting.

While polymorphisms may be associated with diseases, high-throughput sequencing approaches coupled with bioinformatics tools are homing in on the exact genetic causes of such diseases including atypical hemolytic-uremic syndrome [7], hereditary hypertension [8], and autism [9]. These studies usually begin by sequencing parts of or entire genomes and transcriptomes (the sum of all DNA transcripts) via whole-genome, RNA, or exome (the part of the genome formed by exons) sequencing. By comparing patient genomes with a reference genome, researchers can pinpoint base-pair differences between patients and what is expected. If the variations are in exons, their impact on the protein can be predicted. In other cases, binding sites for other proteins may be created by the change in the genetic sequence, causing unusual, and harmful levels of transcription [10]. Using bioinformatics researchers can create a list of the more likely “suspects” from the thousands of polymorphisms that differ between patients with a disease and healthy controls, making the problem of finding the functional genetic determinants of diseases more tractable.

Full article, and bibliography here.


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John Macey

I was born, and principally educated, in the fields of biochemistry, and business management in the northeastern USA. However, my world-wide professional career has greatly expanded upon that US base to involve the many different segments of the Biotech / Life Science fields globally. – I have been dressed as a surgeon to view many, many surgical proceedures - The major players in the health care fields that I have worked for include: Johnson & Johnson, DuPont, Abbott Laboratories, and F. Hoffmann-La Roche. – Positions have included selling nuclear materials for both in-vivo & in-vitro (radio-pharmaceutical & radio-immunoassay) medical diagnostic purposes, in the four countries in Scandinavia, based south of Stockholm, to managing Ph. Ds at a global Swiss headquarters location. – At one time I held a position of Strategy Manager for Europe, Middle-East & Africa (EME&A) for a Chicago based company, but living in Germany. – I do speak fluent colloquial German. – In addition to having lived in multiple European countries, my professional career took me to Asia for well over a decade. There I had management control of Oceania, the Pacific Rim, Northern Asia, Japan, out to India. – Occasionally, management assignments have taken me to all of Latin America, and most of South America. – I am extremely culturally aware, a skilled negotiator, and a seasoned manager of men and science. – My one abiding passion has always been computing, data, and analysis. As such, my main computer operating system is Linux, and open-source computer applications. – I do also run Microsoft 7, and Mac OS X (all 3 operating systems on the same H-P Ultrabook). I hope you enjoy your time on the Blog, and should you have any comments / feedback please feel free to email me @ jjmacey@jjmacey.net, or visit my Linux Web Site @ www.jjmacey.net (always evolving) – John J. Macey – AKA Adler, which in German means Eagle – Wildwood, New Jersey - Together, we can expand your global markets - with our partnerships. The partnerships are global utlizing multiple Law, Regulatory, Seasoned Management, Employment, M&A and buidlers of Business. Contact use.