As the era of personalized medicine emerges, important ethical and legal questions arise about how personal genetic testing information is managed and used. For example, how should genetic information be used, by whom, and who should have access to it? As a result, there is a lot of current research on the ethical, legal, and social implications (ELSI) of scientific and medical advances from genomic DNA research. Many nations have allocated resources toward addressing these areas, such as the National Institutes of Health (NIH) ELSI Program.

In the May 11 issue of Science, researchers working in ELSI related to genomics advances from several countries, initiated a program to facilitate research work on these issues more globally using a web-based platform designated as ELSI 2.0. The international ELSI "collaboratory" as it is described, is designed to enable research on the ethical, legal, and social implications of genomics to become more coordinated, responsive to societal needs, and better able to apply the research knowledge it generates at a global level" with a purpose to "accelerate the translation of ELIS research findings into practice and policy."

The hope is that the web-based infrastructure with enable researchers from around the world to build off of more diverse research work, connect with other scholars, expand study and participant groups, access a broader range of research tools, and conduct more diverse studies. It is estimated the project will require about $2 million per year for the first 2-3 years to establish. Currently, they are inviting interested individuals to participate and access the open source tools that are currently available as a pilot program.

For more information on this project, you can also read the press release, as well as link to pilot ELSI 2.0 site.

Addressing the Ethical, Legal, and Social Implication of Genomic Research originally appeared on About.com Biotech / Biomedical on Wednesday, May 16th, 2012 at 05:59:35.

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Researchers at the University of Pennsylvania completed a 10-year long follow up gene therapy safety study of patients that received an engineered gene which enabled immune system T-cells to recognize the HIV virus. In three trials between 1998 and 2002, immune system T-cells from the blood of 43 HIV-positive patients were infected with an modified retrovirus carrying an engineered gene called CD3-zeta. As a result, the CD3-zeta gene, which combined parts of the natural CD3 and CD4 genes to enable it to recognize the HIV virus and turn on the T-cell's immune response, became part of the genomic DNA in the T-cells. The T-cells were then injected back into the patient's blood stream. Of the 43 patients, 41 still had detectable levels of 0.01-0.1% of modified T-cells circulating, indicating the cells proliferated as a normal part of population. Perhaps more important than the length of time the cells remained, is that none of the patients appear to have any abnormalities nor do the cells appear to behave any differently from normal T-cells.

The findings indicate this gene therapy approach with T-cell populations seems reasonably safe and could be an effective technique to treat other blood borne disorders as well as HIV infection. This is in sharp contrast to a similar gene therapy approach also run in 1998-2000 to correct a genetic disorder in children. This other study also used a retrovirus vector to deliver the gene but they placed the gene in immature blood stem cells. Four out of 11 children developed leukemia and one subsequently died. The results from this recent follow up study indicate T-cells seem to be much better behaved targets for retroviral gene therapy. This is one of several recent studies indicating somatic-cell gene therapy may be a practical and effective approach to treatment for many types of diseases.

Read a summary of this study on the Doctor's Lounge website or at MedicalXpress.com.

Ten-Year Study Demonstrates Safety of Retroviral Gene Therapy Using T-Cells originally appeared on About.com Biotech / Biomedical on Monday, May 7th, 2012 at 16:08:40.

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The White House just released a National Bioeconomy Blueprint which outlines initiatives and policies for Federal government agencies to advance and promote development of a broad range of biology-related industries from biofuels through environmental sciences. Of course, a large portion of the report the report focuses on the largest segment of the bioeconomy, biomedical research.  Two of the six outlined objectives target the major challenges with developing and launching new drugs, diagnostic tests, and medical devices.

In an effort to speed up the discovery of new drugs and disease markers, the blueprint talks about increasing support for translational research. Activities supporting this objective includes the National Center for Advancing Translational Sciences (NCATS) started the end of last year. NCATS is a publicly funded enterprise within the NIH that provides research support to identify and validate new drugs and drug targets.  This initiative addresses difficulties at the start of the drug development pipeline by expanding the potential validated drug candidates and finding additional druggable targets beyond the several hundred GPCRs, proteases, and kinases that are the focus of most current drug screening.  However, the blueprint also focuses on the regulatory challenges that limit the approval and launch of new therapeutics.

The same translational research objective that includes the above initiative also mentions the NIH/FDA collaborative Regulatory Science program.  Implemented to speed up development and adoption of advanced technology, such as nanotechnology and microdevices, in regulatory evaluations, this program aim to "more effectively evaluate product safety, efficacy and quality" of new drugs and diagnostics.  Another objective in the plan specifically targets regulations reform "to reduce barriers, increase the speed and predictability of regulatory processes, and reduce costs...." and include several activities targeted toward streamlining and improving FDA regulatory procedures.  It seems these actions might be very timely given recent criticism from some sectors that the FDA approval process is having a negative effect on drug development.

Read the National Bioeconomy Blueprint</a>.

Whitehouse Releases Guidelines for the Bioeconomy originally appeared on About.com Biotech / Biomedical on Saturday, April 28th, 2012 at 23:26:25.

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Researchers in the UK appear to have found a set of epigenetically regulated genes that influence aging. The study published in the on-line journal PLoS Genetics associated chemical modifications in DNA (i.e., epigenetic marks) with age and aging characteristics, such as lung function, bone mineral density, blood pressure, of 172 female identical twins between 32 and 80 years old. They found 490 genes with that had changes in epigenetic marks that correlated with the age, but just 4 that correlated with differences in age-related traits, specifically LDL cholesterol levels, lung function, and maternal longevity (mother's lifespan).

The findings indicate that, with few exceptions, such as the examples related to cholesterol and lung function found in this study, most epigenetic changes related with aging do not appear regulate health conditions associated with old age.   However, some of the age-related epigenetic marks do appear to occur very early in life so it is still unclear what lifestyle and environmental factors might influence these, or even if they are inherited.

For more details, you can also read the announcement from King's College in London.

Researchers Find Age-Related Gene Regulators originally appeared on About.com Biotech / Biomedical on Saturday, April 28th, 2012 at 23:09:53.

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Roche's $46.8 billion bid to take over Illumina fell through when Roche allowed it to expire last week after Illumina's shareholders rejected Roche's attempt to appoint its own directors to Illumina's board. Although Roche has been actively pursuing this deal since December last year and agreed to sweeten the offer from $44.50 per share in cash to $51.00 per in the end of March, Roche declined to pursue the company further after the latest rebuff.

Given the trend toward personalized medicine and continued growth of high-throughput next-generation sequencing market, it is likely Roche remains strategically very interested in advanced sequencing. However, in light of new systems recently coming on-line by other next-generation sequencing companies, like Life Technologies' Personal Genome Machine and Oxford Nanopore's MiniOn System in the last few months, perhaps Roche's confidence in the continued dominance of the Illumina platform has slipped a bit. Early reviews of Illumina's new MiSeq sequencer do seem to be quite positive though.  It will be interesting to see what Roche's next move will be.

For more details on the failed takeover, check out the articles on Bloomberg and the Wall Street Journal.

Roche Abandons Takeover of Illumina originally appeared on About.com Biotech / Biomedical on Thursday, April 26th, 2012 at 02:58:03.

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The Supreme Court's unanimous ruling last month that a Prometheus Laboratories' patents on a PCR-based blood test that looks at variations of a particular gene to determine an individual's dosage for a particular drug were not valid created somewhat of a sensation in the biotech sphere. Prometheus, part of Nestle Health Science, sued the Mayo Clinic when the clinic substituted its own in-house developed procedure for the $260 test that Prometheus sold to determine a patient's starting dose of the drug thiopurine, which is often used to treat inflammatory bowel diseases such as Crohn's disease or ulcerative colitis. Prometheus lost and the Court invalidated claims in two of its patents in a ruling that rippled in companies involved with personalized medicine.

The diagnostic test at the center of the dispute uses HPLC to identify variations of the gene thiopurine methyltransferase (TPMT). Different variants of TPMT metabolize the drug at different rates so a doctor can infer which dosage of the drug to give a patient by identifying which genetic variation of TPMT that a patient has. The Supreme Court sided with the original ruling of the local district court that the test was unpatentable because it is an observation of a natural correlation between the gene and the metabolism rate of the drug.  In other words, the Court felt it is simply an observation not a patentable invention.

As evidenced by the range of coverage in biotech trade publications (e.g., GEN , GenomeWeb, The Scientist, and ScienceInsider), the ruling certainly stimulated significant discussion. At issue, it creates a lot of uncertainty for companies trying to protect their right to commercialize discoveries that relate clinical treatments with specific genetic variations. This the basis of emerging personalized medicine approaches.

Supreme Court's Ruling against Prometheus Shakes Up Personalized Medicine originally appeared on About.com Biotech / Biomedical on Thursday, April 26th, 2012 at 01:31:56.

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Roche continued its efforts to acquire Illumina by extending its offer through March 23 to buy all outstanding shares of Illumina stock for $5.7 billion (i.e., $44.50 per share). Roche made the original offer in January when they could not get an agreement with Illumina's board of directors to buy the company.

Illumina is the current market leader in high-throughput next-generation sequencing an approach that has particular clinical potential for genetic testing and personalized medicine. Current genetic tests often use PCR to look at one genetic marker at a time or microarray system to generate a broader profile of genetic markers. In fact, Roche, in 2003 with Affymetrix, introduced the first clinical diagnostic using a microarray to identify genetic differences which help doctors determine appropriate dose levels of particular drugs for patients. Later, in 2007, Roche acquired a whole microarray platform by purchasing a competitor of Affymetrix, Nimblegen, and actually, in the same year, it also acquired 454's high-throughput sequencing platform which uses a different technology than Illumina's. Both acquisitions were to support its gene-based clinical diagnostic efforts.

Roche's latest interest in Illumina, then, continues its on-going strategy to become a leader in the developing clinical genomics market. The dogged pursuit of Illumina suggests it sees some unique opportunity with this sequencing technology. Given the rate of development of high-throughput sequencing and its previous investments, is Roche right this time or will new approaches shift the playing field again? Recently Life Technologies announced $1,000 genome sequencing, and Pacific Biosciences just upgraded its single-molecule sequencing system. Stay tuned; the field is moving fast.

See updated blog entry on this topic!

Roche Still Trying to Takeover Illumina originally appeared on About.com Biotech / Biomedical on Thursday, April 5th, 2012 at 12:43:27.

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New research at Children's Hospital Boston and the Immune Disease Institute (IDI) helps explain common cancer mutations caused by DNA chromosomes breaking and fusing back together at the wrong spots to connect two different genes. These chromosomal rearrangements are characteristic of many types of cancers, including leukemias and lymphomas. In work that was published in the February 16 issue of Cell, Dr. Frederick Alt at the Children's Hospital Boston and Dr. Job Dekker at the University of Massachusetts Medical School have worked out some of the rules about how these rearrangements occur.

The study combined two distinct technologies that each lab developed over the past several years. One technique developed by Dr. Alt's group that uses high-throughput DNA sequencing to find where chromosomes have broken and respliced. The other technology from Dr. Dekker's lab can determine the physical positions of chromosomes in a cell. With these approaches, they were able to create a spatial map of the chromosomal splice sites present in cultured mouse blood B-cells.

Among the findings, the researchers discovered that chromosomes break more commonly than previously realized. Also, although most breaks tend to fuse with another part of the same chromosome, certain regions of chromosomes are prone to exchange with closely located regions from other chromosomes. The study also has implications for gene therapy since it suggests how genes introduced into cells to correct genetic disorders may produce disruptive rearrangement.

Now that this has been done with one type of cells, the same method can be applied to other cells to help explain why certain chromosome translocations occur in different types of cancers.

For more information, see the press release or summary on the Children's Hospital Boston website.

Chromosome Mapping Approach Helps Understand Cancer Development originally appeared on About.com Biotech / Biomedical on Thursday, April 5th, 2012 at 12:43:26.

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It may soon be easier to get approval for new biotech-based medicines or biologics that are similar to ones currently on the market. On February 9, the FDA published draft guidelines providing a fast track to get FDA approval of biosimilars—new biologically-produced drugs that are similar to ones already in use.

Although some biotech-based medicines have been used since the 1980's, there are no generic forms of these type of drugs. The reason is that, although chemists can easily reproduce formulations of the active chemical in traditional drugs, biologics cannot be synthesized by mixing exact amounts of chemicals. Biologics are made in living growing organisms, such as cultured cells, using genetic engineering. The manufacturing process for biotech drugs is completely different and, as a result, the FDA guidelines for fast track approval of standard generic drugs do not apply to biologics. Any new biologic, even if it is almost the same as one already being sold, has to go through the entire FDA screening process—including clinical trials. This process is very time consuming and costly. However, the draft guidelines published today will change. When adopted, they will provide a fast track approval process for biosimilars.

The introduction of these new guidelines is a result of the Affordable Care Act, signed into law last year. For more details, read the FDA press release and Associated Press coverage.

Biosimilars: Generic Versions of Biotech Drugs May Soon be Approved originally appeared on About.com Biotech / Biomedical on Thursday, April 5th, 2012 at 12:43:25.

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Lots of new research is being done using miRNA and siRNA, as small molecule treatments for various diseases. As a result, these small RNA pieces have become very popular topics in biotech, but for those of you who aren't all that familiar with the nucleic acids, there are three major types of RNA within cells. The micro/si RNAs come from one of them, called messenger RNA (mRNA). Here's the lowdown on the three types of larger RNA particles:

The Difference Between miRNA and siRNA

What are Transcription Factors?

Purifying Proteins

Types of RNA originally appeared on About.com Biotech / Biomedical on Thursday, May 26th, 2011 at 07:37:29.

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