Affordable Health Care: A Debate: A discussion of the Affordable Care Act and alternatives – Video

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Affordable Health Care: A Debate: A discussion of the Affordable Care Act and alternatives
The Oberlin Debate Series presents David Henderson and Ted Marmor in discussion on Wednesday, March 19 at 7:30pm in Nancy Schrom Dye Lecture Hall. Ted Marmor...

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Affordable Health Care: A Debate: A discussion of the Affordable Care Act and alternatives - Video

University of Iowa hopes to use sequencing to better diagnose and treat patients

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Some patients with a suspected genetic disorder will go on what medical professionals call a diagnostic odyssey to find the cause of their symptoms.

A sample is run through the HiSeq 2000, a high-throughput sequencing system in the DNA lab at the University of Iowa Eckstein Medical Research Building in Iowa City. The green dots on the screen show a cluster of the fragment being sequenced. The lab also uses a HiSeq 2500, which can complete sequencing in 27 hours to the HiSeq 2000's 12 days. The Iowa Institute of Human Genetics at the University of Iowa is now offering whole exome sequencing, which is among several initiatives the institute is pursuing to further personalize medicine for patients. (Liz Martin/The Gazette-KCRG)

But those explorations, on occasion, can come up empty, frustrating patients and prompting health care providers to seek outside expertise.

Last month, the Iowa Institute of Human Genetics at the University of Iowa began offering such expertise through whole exome sequencing.

The genetic test, which analyzes a portion of about 20,000 genes in the human genome in hopes of helping practitioners diagnose and treat a patient, is among several initiatives the institute is pursuing to further personalize medicine for patients in Iowa and across the country.

The research we do here is to develop new tests to bring precision medicine to the state, said Colleen Campbell, assistant director of the Iowa Institute of Human Genetics and associate with the UI Department of Otolaryngology.

Researchers with the institute also are conducting tests around secondary findings from exome sequencing the discovery of variants in genes unrelated to a patients primary condition and how a persons genes interact with prescribed medication, including pain medication.

The technology is new, but officials with the Iowa institute said genetic sequencing one day could become so widely used that every infant will have it done as part of the standard newborn screen. Then, as a child grows, practitioners will be able to use the information to determine what type of pain medication to prescribe and at what level, for example.

Our focus is to bring innovation to the state, Campbell said. We want patients to be more informed when they go to the doctor and are offered these new tests. And we want to be able to offer this as a tool to doctors.

The Iowa Institute of Human Genetics is among only a dozen or so institutions nationally that offer whole exome sequencing to physicians wanting to order the test on behalf of a patient.

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University of Iowa hopes to use sequencing to better diagnose and treat patients

New study sheds light on genetic drivers of fatal pediatric cancer

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New insights on the genetic drivers behind a rare type of fatal pediatric brain cancer may lead to the development of new patient-targeted treatments, a new study suggests.

Each year about 30 children in Canada are diagnosed with diffuse intrinsic pontine glioma (DIPG), a pediatric cancer for which there is no effective treatment.

Because DIPG tumours occur in the middle of the brainstem specifically in the "pons" region that controls vital functions such as breathing, heart regulation and movement doctors are not able to surgically remove them.

As well, biopsies are rarely performed on the tumours, meaning researchers have faced challenges investigating the genetic landscape of DIPG.

But in a new study from Toronto's Hospital for Sick Children, researchers have uncovered the genetic drivers of DIPG.

The study, published online Sunday in the journal Nature Genetics, found that DIPG is comprised of three molecularly distinct subgroups: "MYCN," "silent" and "H3-K27M."

"Although previously considered to be one disease, DIPG represents three distinct subgroups with different methylation, expression, copy number alteration (CAN) and mutational profiles," the authors write.

The results from the study show that DIPG tumours are distinct from adult brain cancer, the study says.

Dr. Cynthia Hawkins, a neuropathologist and the study's principal investigator, said the discovery will have a significant impact on the development of DIPG treatment options.

"This work gives us the opportunity to make some real progress for these patients and their families," she said in a statement.

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New study sheds light on genetic drivers of fatal pediatric cancer

Synthetic genetic clock keeps accurate time across a range of temperatures

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A long-standing challenge in synthetic biology has been to create gene circuits that behave in predictable and robust ways. Mathematical modeling experts from the University of Houston (UH) collaborated with experimental biologists at Rice University to create a synthetic genetic clock that keeps accurate time across a range of temperatures. The findings were published in a recent issue of the Proceedings of the National Academy of Sciences.

"Synthetic gene circuits are often fragile, and environmental changes frequently alter their behavior," said Kreimir Josi, professor of mathematics in UH's College of Natural Sciences and Mathematics. "Our work focused on engineering a gene circuit not affected by temperature change."

Synthetic biology is a field in which naturally occurring biological systems are redesigned for various purposes, such as producing biofuel. The UH and Rice research targeted the bacterium E. coli.

"In E. coli and other bacteria, if you increase the temperature by about 10 degrees the rate of biochemical reactions will double -- and therefore genetic clocks will speed up," Josi said. "We wanted to create a synthetic gene clock that compensates for this increase in tempo and keeps accurate time, regardless of temperature."

The UH team, led by Josi and William Ott, an assistant professor of mathematics, collaborated with the lab of Matthew Bennett, assistant professor of biochemistry and cell biology at Rice. Josi, Bennett and Ott have been working together on various research projects for three years. The team also included UH postdoctoral fellow Chinmaya Gupta.

According to Bennett, the ability to keep cellular reactions accurately timed, regardless of temperature, may be valuable to synthetic biologists who wish to reprogram cellular regulatory mechanisms for biotechnology.

The work involved engineering a gene within the clock onto a plasmid, a little piece of DNA that is inserted into E. coli. A mutation in the gene had the effect of slowing down the clock as temperature increased.

UH researchers created a mathematical model to assess the various design features that would be needed in the plasmid to counteract temperature change. Gupta showed that the model captured the mechanisms essential to compensate for the temperature-dependent changes in reaction rates.

The computational modeling confirmed that a single mutation could result in a genetic clock with a stable period across a large range of temperatures -- an observation confirmed by experiments in the Bennett lab. Josi's team then confirmed the predictions of the models using real data.

"Having a mechanistic model that allows you to determine which features are important and which can be ignored for a genetic circuit to behave in a particular way allows you to more efficiently create circuits with desired properties," Gupta said. "It allows you to concentrate on the most important factors necessary in the design."

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Synthetic genetic clock keeps accurate time across a range of temperatures

The coming transition of broadcasting, TV & Cable (short video by Futurist Gerd Leonhard) – Video

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The coming transition of broadcasting, TV Cable (short video by Futurist Gerd Leonhard)
This is an excerpt from a recent keynote speech I gave on the future of media, in particular television / video. We are witnessing the convergence of broadca...

By: Gerd Leonhard

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The coming transition of broadcasting, TV & Cable (short video by Futurist Gerd Leonhard) - Video