More accurate and precise assessment of copy number variation (CNV), the number of copies of a particular gene that are present in a genome, may lead to improved diagnosis and therapy for cancer and other diseases including autoimmune disorders. However, current technologies to determine copy number can be inaccurate, labor intensive, or prohibitively costly, diminishing their effectiveness in clinical applications.
Using Bio-Rad Laboratories’ Droplet Digital PCR (ddPCR™) technology, researchers can rapidly, accurately, and economically determine copy number states. Groups from the University of California, Davis, and the University of Colorado School of Medicine, among others, will present promising new research results at this year’s annual meeting of the American Society of Human Genetics (ASHG), held in Boston from October 22-25, 2013.
“Since its introduction in 2011, Bio-Rad Laboratory’s ddPCR technology has demonstrated the potential to be a transformative technology based on its greater precision, reproducibility, and sensitivity than conventional approaches such as real-time PCR,” said George Karlin-Neumann, the scientific affairs director at Bio-Rad’s Digital Biology Center.
Less than two years since Bio-Rad brought digital PCR systems to the market, studies using ddPCR assays have resulted in nearly 50 peer-reviewed publications.
Using ddPCR to Improve Pediatric Care
One example of how CNV determination with ddPCR technology shows promise for clinical applications is newborn CNV screening. 22q11.2 Deletion Syndrome (22q11DS) is the most common microdeletion syndrome in humans and is associated with more than 100 different diagnostic findings including craniofacial defects, developmental delay, and autism spectrum disorders. Researchers in Dr. Flora Tassone’s lab at the University of California, Davis have developed an inexpensive, rapid, sensitive, and specific alternative to fluorescent in-situ hybridization (FISH) – the currently accepted diagnostic tool – using ddPCR technology to identify newborns with 22q11DS. At the ASHG meeting, they will demonstrate for the first time the efficacy of ddPCR in large population screening studies (Program Number 2590F).
Researchers on Dr. James Sikela’s team at the University of Colorado School of Medicine are investigating DUF1220 copy number reduction and its association with microcephaly, a neurodevelopment disorder related to pediatric brain size. They will demonstrate how ddPCR is an effective technique for determining copy numbers of highly duplicated sequences such as DUF1220 and how ddPCR may be used for similar studies in future research where array comparative genomic hybridization (aCGH) analysis or qPCR are not accurate enough (Program Number 3215F).
In addition to the research findings described above, Bio-Rad’s ddPCR technology will be showcased in 11 other presentations. For more information, visit Bio-Rad’s booth at ASHG (booth #839). Bio-Rad will also be hosting an ASHG lunch workshop on Thursday, October 24 at 12:30 PM in room 211 as well as a hospitality suite on Thursday, October 24 at 7:45 PM at the New England Aquarium, 1 Central Wharf in Boston, featuring presentations from UC Davis and Harvard Medical School researchers. Please visit booth #839 for further details.
After failing to enact legislation on the 2014 fiscal budget, the US government shutdown and furloughed approximately 800,000 federal workers. For seventeen nerve-racking days in October, (October 1-17), many routine government services were closed, costing the economy a whopping $24 Billion dollars. While the shutdown affected many public services and universities, it had a particularly crippling effect on one of America’s largest research institutes, the National Institute of Health. Despite the fact that the shutdown ended several days ago, many scientists continue to wonder what long-term impact the fiasco will have on their funding. Considering that the NIH supports more than 50% of American research projects, this question is completely justified.
In an article posted to the NIH website on October 17th, Sally Rockey, the NIH’s Deputy Director for Extramural Research, inforomed scientists that October grant submission deadlines will be rescheduled to November and missed reviews may or may not be rescheduled depending on the particular reviewer’s personal situation.
How do scientists feel about this setback? From the comments posted to the NIH blog, not very happy.
One PI wonders if it is even worth applying for NIH funding for the coming year. He correctly states that although the shutdown has ended, the sequester continues to loom large and hasn’t left much hope for scientists looking for grants in 2014. Even more worryingly, the commenter tells us of the impact that the shutdown/sequester has had on the next generation of American scientists which his best junior scientist moving to Malta where she has been promised more lucrative scientific funding.
Another scientists worries that:
five month delay in grant reviews may be career-ending for many scientists
Or as another scientist wrote:
Years of preparations by researchers who’s careers are dependent on these reviews will be put in peril because the agency closed for a couple of weeks
Will American science ever recover from these setbacks? How long can we sustain our position as a world leader in scientific discovery? If the responses from NIH scientists are any indication, we are entering a deep dark tunnel and it may take us years to dig out.
Duke researchers have connected very rare and precise duplications and deletions in the human genome to their complex disease consequences by duplicating them in zebrafish.
The findings are based on detailed studies of five people missing a small fragment of their genome and suffering from a mysterious syndrome of craniofacial features, visual anomalies and developmental delays.
When those patient observations were coupled to analyses of the anatomical defects in genetically altered zebrafish embryos, the researchers were able to identify the contribution specific genes made to the pathology, demonstrating a powerful tool that can now be applied to unraveling many other complex and rare human genetic conditions.
The findings are broadly important for human genetic disorders because copy-number variants (CNVs) — fragments of the genome that are either missing or existing in extra copies — are quite common in the genome. But their precise contribution to diseases has been difficult to determine because CNVs can affect the function of many genes simultaneously.
Gene’s in a bottle is one of the coolest kIts produced by Bio-Rad. Check our the reaction on these kids faces.
Your profession is your passion!