News from whole genome sequencing and personal genomes will be displayed here:
This article from the magazine New Scientist explores and discusses if the advances we have been making in genomic science have been translated to medicine. For scientists the advances have been outstanding; however, the doctors and patients are disappointed with the small amount of drugs that were discovered using genomics' tools.
Whole genome sequencing of rare genetic diseases using new DNA sequencing technologies shed some light on "monogenic" diseases with complex phenotypes!
Three recent studies on two human rare genetic diseases - Charcot-Marie-Tooth Neurophaty and Miller Syndrome - were recently published and can help in the understanding of complex phenotypes (1,2,3). Rare genetic diseases are defined as the ones that affect fewer than 200,000 individuals in the US. More than 7,000 rare genetic diseases have been already identified but the majority have complex phenotypes even when linked to a single gene (i.e. Cystic Fibrosis and the CFTR gene). Complex phenotypes translate into different clinical features in affected individuals. Thus, whole genome sequencing of individuals with rare genetic diseases and their relatives can help in the identification of gene(s) that are implicated in different clinical phenotypes.
1. Lupski JR, et al., Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy. N Engl J Med. March 10, 2010.
2. Roach JC, et al., Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing. Science. March 10, 2010.
3. Ng SB, et al., Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 42 (1): 30-35, 2010.
Genomes will be sequenced faster and at low costs in the future!
Genomics is entering in a new era. The cost of sequencing an entire genome is lowering fast and in a few years it will be possible to sequence an entire human genome for 1,000 dollars or even less. Several companies have been developing and releasing new DNA sequencing machines with better resolution and accuracy (see Technology News section for details). We will be able to sequence, analyze and understand all the information encoded in a genome for an individual very soon. However, big challenges lie ahead to understand the information behind the sequence of the DNA. These new advances will represent a breakthrough for medical science, and a doctor will be able to scan the genome of a patient to find susceptibility for diseases, problems to metabolize specific drugs, etc. The future of personal genomics looks promising and we can expect new advances in this field in the years to come.
Companies that already provide services to sequence a whole genome:
Knome is the first personal genomics company to offer whole-genome sequencing and comprehensive analysis services for individuals. Knome, a leading personal genomics company, was founded in 2007 by George Church, Ph.D, a Professor of Genetics at Harvard Medical School. The company's goal is to provide cutting-edge genetic interpretation services for clients in a private and secure environment.
Social Media companies that will help in the storage and analysis of our genomes:
Genomera - NEW!
Genomera is a new company helping people use genomic (DNA) information for improved health through the combination of sophisticated analysis and working together using social, personal, analytical genomics. The main aim of the company is to help as many as possible, particularly people (and their advocates) suffering from un-diagnosed and under-diagnosed diseases and conditions.
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