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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

Will the U.S. Keep Up in Precision Medicine?

A recent post on The Hill points out that Precision Medicine is the “next Gold Rush.” Is the U.S. doing what it takes to keep up with the rest of the world?

As the authors state, rather than being contested in gold mines, this race will be contested in research labs, clinics, and patent offices. They point out that federal funding commitments will be needed to keep America in the running. The entire article is available here.

At Forentis we believe that the private sector needs to step up too, thus the impetus behind our Fund. Investing in the companies that are delivering new discoveries and creating intellectual property should pay big dividends as the race for cures and early diagnoses heats up.

“…precision medicine allows clinicians to advance beyond the relatively coarse diagnostic and therapeutic categories of the present day, towards a more targeted, fine-grained system, based in part on genetics and molecularly defined phenotypes.”

Promise of Precision Medicine

An excellent article in Fortune’s Brainstorm Health series takes a look at the opportunities and challenges in today’s Precision Medicine focus. You can view the article and related video here.

“You pick up conditions way before people have symptoms and way before they’re likely to spread anywhere.”

— Shelley Hwang, Duke Cancer Institute

Ebola Biomarker Discovery

A team of researchers led by Boston University, the University of Liverpool, Public Health England, and other international agencies has discovered a biomarker that can help predict the progression of the Ebola disease: a handful of genes that are overactivated in patients who succumb to the disease.

The research, funded by the United Kingdom’s National Institute for Health Research and the US Food and Drug Administration, and published on January 19, 2017, in the journal Genome Biology, suggests a new type of blood test that while still in the preliminary stages of development, might be useful in future outbreaks to steer patients to the best treatment.

“We can get a sense of who will survive and who won’t, and we can get it earlier. This is the first study of this type ever done on this scale.”

– John Connor, a School of Medicine associate professor of microbiology at BU’s National Emerging Infectious Diseases Laboratories

Get the full story at Science Blog

Liquid Biopsy Market Set to Explode

The Global Liquid Biopsy Market has been assessed as a swiftly growing market and it is expected that the market will reach high growth figures and boom in the coming future, according to a report from Market Research Future.

According to the report, there is enormous demand for liquid biopsy in the research laboratories of pharmaceutical and biotechnology companies as drug development is one of the major applications of the technology.
There has been a tremendous growth in the prevalence of cancer disease and the global population getting diagnosed with cancer. The firm estimates that the Liquid Biopsy market is expected to grow at a CAGR of 21.6% from 2016 to 2022.

Early Cancer Detection Needed

This is one of the key focus areas for Forentis and our companies. A recent article in Med Device Online provides an overview of where we are at and where we are headed.

In the absence of vaccine, or a magic bullet drug that could cure any type of cancer, there is a need to focus on early diagnosis of cancer, which is the single most important – and often untapped – tool for success available to medical science in its fight against cancer.

Opportunities in this area are widely understood and discussed, particularly with regard to their cost, speed, accuracy, and potential for minimal invasion. Cancer diagnosis is a rapidly evolving field that openly accepts new technologies if they show clear improvement over established norms.

Read the entire article here.

Concussion Biomarkers

In this excellent article in Wired magazine, a new approach to assessing concussion risks may lead to more comprehensive and accurate determinations of head injury severity. The possibilities in biomarker discovery are virtually unlimited!

Scientists may have discovered a blood test for concussions, more sensitive and less biased than any human evaluator. When axons in the brain get damaged, they release a number of proteins into the cerebral spinal fluid. About one in a thousand of those proteins crosses the blood-brain barrier to enter the bloodstream. The more damage, the higher the blood protein concentration. The proteins are just hard to find.

“It’s like trying to find grains of sand in a thousand Olympic-size swimming pools,” says Jessica Gill, a researcher at the National Institutes of Health who studies brain trauma and PTSD in soldiers.

Check out the entire article here.

Epigenetics Drives Pancreatic Cancer Metastasis, Potentially Reversible

A multicenter study led by investigators at Johns Hopkins University just reported on a full genomic analysis of tumor samples from a small number of people who died of pancreatic cancer. The new data suggests that epigenetic changes control how DNA operates to confer survival advantages on subsets of pancreatic cancer cells.

“Changes in genes’ regulation—not in the DNA sequence of genes themselves—were the driving force behind successful metastases in our experiments, and, as far as we know, this is the first genome-wide experimental evidence for this phenomenon.”

Read more at GEN

Big Data: Precision Medicine Research in the Million-Genome Era

A major challenge for large-scale precision medicine research is in harmonizing data from different sources. As a simple example, researchers can use a whole genome sequence from a patient with a rare disease to find a list of potentially causal variants for further investigation. Moreover, these variants can be filtered effectively when combined with genomic data from 100,000 people without the disease. Bringing in the additional 100,000 samples can be nontrivial, both because of the size of the data involved and because of different methods of data collection among studies. Read the entire article at GEN