June 2017

Viewing posts from June , 2017

Surfing with DAVE

The growth in cancer genomics has been one of the most exciting scientific and technological developments in cancer research, spurring significant advances in patient care and laying the groundwork for many future advances.

In the year since it was launched, the National Cancer Institute’s Genomic Data Commons (GDC) has collected and harmonized a vast quantity of cancer genomics data—more than 4.5 petabytes—which has been fundamental in the recent progress against cancer and holds the promise for continued improvement in our ability to diagnose, treat, and care for patients.

Now, as a data-analysis system, the GDC is taking major steps toward engaging the broader research community and encouraging further collaboration and data sharing. They recently introduced a new program – Data Analysis, Visualization, and Exploration Tools, an online, open-access cancer research resource called DAVE.

DAVE is a new web interface for exploring and analyzing cancer genomic data, in real time, online, without the need to download or process the data.

DAVE provides an unprecedented level of flexibility in exploring the data. Researchers can create custom cohorts for analysis by selecting patients with particular altered genes or other relevant biological and clinical features. And researchers are no longer bound to analyzing patients only in the context of their original project cohorts—a powerful innovation given the recent evidence that a tumor’s molecular features are far more accurate and informative for cancer subtyping than tissue of origin or histology.

Another step forward for precision medicine! For the details, visit the National Cancer Institute.

Finding the Source of Cancers

Investigators at the University of California San Diego School of Medicine and at Xijing Hospital and Sun Yat-sen Cancer Center in China say that DNA methylation can provide effective markers for at least four major cancers.

The biomarkers are able to differentiate malignant tissues from normal tissues and also provide information on prognosis and survival, according to the researchers.

“This new simple method will be of great value to pinpoint the primary source of the tumor.”

–Michael Karin, Ph.D., Professor of Pharmacology, UC San Diego School of Medicine.

“Choosing the proper cancer treatment with the best chance of recovery and survival depends greatly upon accurately diagnosing the specific type or subtype of cancer,” said Kang Zhang, M.D., Ph.D., founding director of the Institute for Genomic Medicine and co-director of biomaterials and tissue engineering at the Institute of Engineering in Medicine, both at UC San Diego School of Medicine.

Read the entire article at Genetic Engineering and Biotechnology News here.

Genome Sequencing May Find Hidden Risks

A new article in Science Magazine points to two new studies that indicate that “healthy” people may be harboring genomic signs of potential future health problems. This type of preventative testing fits into the precision medicine model.

Together, the studies suggest that sequencing the genomes of otherwise healthy adults can for about one in five people turn up risk markers for rare diseases or genetic mutations associated with cancers.

One team also found that every sequenced patient carried at least one recessive mutation linked to a disease—a single copy of a mutant gene that could cause an illness if two copies are present. That knowledge can be used to make reproductive decisions—a partner may get tested to see if they have a matching mutation—and prompt family members to test themselves for carrier status.

The other, using whole-exome sequencing, which looks only at the protein-coding regions of the genome, found that 12 out of 70 healthy adults, or 17%, unknowingly had one or more DNA mutations that increased the risk for genetic diseases for which there are treatment or preventative options.

Read the whole article at Science Magazine here.

Science Magazine

Cool information from Science Magazine

New Weapon in War on Alzheimer’s?

In a potential landmark development in the early detection and prevention of Alzheimer’s disease, a Brown University research team on Monday tested the first person enrolled in a study of whether a drug being developed for prevention of the fatal disease can lower deposits in the eye of the same plaque that forms in the brains of Alzheimer’s patients.

“…yet another weapon in the war against Alzheimer’s.”

–Dr. Stephen Salloway, head of Butler’s Memory and Aging Program
With today’s technology, plaque deposits can be detected before an individual shows symptoms of Alzheimer’s. Preventing or reversing their formation can stop cognitive decline.
For the full story, visit the Providence Journal

NGS Companion Diagnostic Approved by FDA

The US Food and Drug Administration today approved the first next-generation sequencing-based companion diagnostic that can analyze alterations in a panel of genes predictive of response across three non-small cell lung cancer treatments.

The panel, however, gauges alterations in 23 genes in total. The test report will not only indicate whether patients have ROS1, EGFR, and BRAF alterations linked to the three FDA-approved treatments, but also the presence or absence of variants in other genes.

This initial approval makes way for Thermo Fisher to quickly expand the indication of the panel into new markers predictive of drug response. The company is actively working with other drugmakers to expand the indications for the Oncomine Dx Target Test.

Read the entire article at Genome Web.

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Get more genomic news at GenomeWeb

Breakthrough FDA Ruling

The Food and Drug Administration (FDA) granted accelerated approval to the immunotherapy pembrolizumab for patients with solid tumors that have one of two specific genetic features known as mismatch repair deficiency and high microsatellite instability. The approval covers adult and pediatric patients whose cancer has progressed despite prior treatment and who have no alternative treatment options.

This is the first time that FDA has approved a cancer treatment based solely on the presence of a genetic feature in a tumor, rather than the patient’s cancer type.

“I think this is a step forward for precision medicine.”

–James Gulley, M.D., Ph.D., head of the immunotherapy section of NCI’s Center for Cancer Research

Having a biomarker to identify patients who are most likely to respond is “an area we have widely anticipated as being the next step in understanding how to better use immunotherapies,” said Dr. Gulley. “It’s a welcome first step, and there’s much more yet to be done.”

For the full article, visit the National Cancer Institute page here.

Key to Metastasis?

A team at Johns Hopkins has discovered the biochemical mechanism that tells cancer cells to break off from the primary tumor and spread throughout the body, a process called metastasis. Some 90 percent of cancer deaths are caused when cancer metastasizes.

“…what we came up with through our studies was this drug cocktail that could potentially inhibit the spread of cancer.”

— Hasini Jayatilaka, post-doctoral fellow at Johns Hopkins

Typically, cancer research and treatment has focused on shrinking the primary tumor through chemotherapy or other methods. But, the team said, by attacking the deadly process of metastasis, more patients could survive.
Check out the whole article in the Baltimore Sun by clicking here.

Institute for Protein Innovation Launched

The Institute for Protein Innovation will work to pursue new therapies for currently intractable diseases by bringing together leaders with backgrounds in academic research, the biopharma industry, and biomedical investing.

The Institute plans to curate information related to DNA sequence, protein expression, and functional validation of these reagents, including source code, in a publicly-accessible web portal, with the goal of accelerating the development of new drugs and supporting existing large-scale research efforts, citing the Human Cell Atlas.

The Institute said it will recruit researchers focused on directed evolution, cell-line development, and biophysical protein characterization, in addition to glycoprotein expression and antibody discovery expertise.

“Despite their pivotal importance in research and medicine, proteins lag behind DNA and RNA in institutional research support and funding.”

–Timothy A. Springer, Ph.D., Founder and Latham Family Professor at Harvard Medical School and Boston Children’s Hospital

Read the full article at Genetic Engineering and Biotechnology News here.

New Article in GEN

Tissue Chips Matter!

tissue on a chip

Check this video from NCATS


How can we speed new drugs to market? One of the cool innovations coming to trials is the concept of “tissue on a chip”. Basically, scientists are mimicking human organs and testing drug compounds on these 3-D platforms. Check out this video for a quick explanation.

To find out more, go to the NCATS “Tissue on a Chip” website.

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National Center for Advancing Translational Sciences main website

Promise of Gene Therapy Being Realized?

Gene therapy has finally made it over the hump. After decades of research and some devastating setbacks, major technical hurdles have been overcome, opening up the long-anticipated promise of this field. A new approval has buoyed interest, pipelines are bubbling with new candidates and big investments are being made.

News about promising gene therapies in the clinic is sprouting up all the time. Scientific challenges remain considerable, though, and pricing will clearly be one of the biggest hurdles for gene therapies going forward.

“Today’s challenges are all around building a viable business model”

— Geoff MacKay, President and CEO of AvroBio

For the complete article at BioPharma Dive, click here.

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