Direct-to-consumer (DTC) genetics company 23andMe was recently granted approval by the Food and Drug

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Direct-to-consumer genetics a new era in personalized medicine? - The Pharma Letter (registration)

The coffin of a little girl was found buried beneath a San Francisco home during renovation work in 2016. (Photo courtesy of Garden of Innocence)

Richard E. (Ed) Green, associate professor of biomolecular engineering, helped identify the remains. (Photo by C. Lagattuta)

On May 9, 2016, a contractor discovered the casket of a child while excavating the backyard of the Karner family in the Lone Mountain neighborhood of San Francisco, setting off a search for the child's identity that garnered international attention.

It was determined that the lost child was a little girl, approximately 2 to 3 years of age, but who was she? What happened to her? When UC Davis anthropology professor Jelmer Eerkens heard about the little girldubbed Miranda Evehe knew he had to help.

I read they were planning to just rebury the body without any analysis, Eerkens told the New York Times in June. As an archaeologist, I thought, thats not right. At some point, these things from the past become our collective heritage.

To unravel the mystery, Eerkens worked with more than 30 specialists and volunteers, including UC Santa Cruz biomolecular engineering professor Ed Green and genealogist and Garden of Innocence founder Elissa Davey. Green's DNA analysis ultimately enabled the investigators to make a definite identification of the child in the casket.

The type of casket Miranda Eve was found in, along with the clothes she was wearing, indicated she was buried approximately 140 to 150 years ago. Researchers discovered that from 1865 until the early 20th century, the present day Lone Mountain neighborhood of San Francisco had been a cemetery owned by the Independent Order of Odd Fellows. The cemetery closed to new burials in 1902, and in the early 1930s, those interred there were removed and reburied in the Greenlawn Cemetery in Colma, Calif. Somehow, the little girl's casket was missed and left behind.

Historical maps

Using an 1865 plan for the development of the cemetery (a map for a time after 1902 could not be located), researchers pinpointed two sections of the cemetery that most likely intersected with the location of the Karners home. Historical maps were then digitally layered on top of each other and cross-referenced against photographs to identify any family plots in that location.

Before she was reinterred, samples of hair were taken for chemical and DNA testing in the hopes of finding a match with a living relative and learning what led to her death at such a young age. In the clean-room facilities in Green's Paleogenomics lab at UC Santa Cruz, DNA was extracted from the Miranda Eve hair samples using standard ancient DNA techniques.

Meanwhile, Eerkens and his students at UC Davis analyzed the nitrogen isotopes in the hair, which revealed that she had suffered from malnourishment for several months before her death. This indicates she was suffering from a chronic illness that caused wasting or starvation, rather than something more sudden such as smallpox, which was common during this time, or an injury, he said. While the exact illness is still unknown, we suspect an illness caused her to eat less and less until she was unable to eat at all.

DNA analysis

Green's initial analysis of the nuclear DNA confirmed little Miranda Eve to be a girl of likely European ancestry, and her mitochondrial DNA was found to be a type most common on the British Isles.

Research on internment records narrowed the search to two highly likely candidates for Miranda Eve's true identity, and an exhaustive search of genealogical records eventually found living family descendants for both candidates. The descendants were contacted and agreed to provide DNA samples for comparison. Green then was able to find a clear match between the DNA from the hair sample and that obtained from the living family member of one of the candidates.

After a year-long search, the mystery was solved: Miranda Eve was born on November 28, 1873, as Edith Howard Cook, the eldest daughter of Horatio Nelson and Edith Scooffy Cook, members of two prominent San Francisco families during the late 19th and early 20th centuries. Edith died just short of her third birthday in October 1876. Her three siblings, two brothers and a sister, survived her. Her older brother Milton H. Cooks grandson, Peter Cook, resides in the San Francisco Bay Area today.

Peter Cooks father passed away when he was just three years old, so he didnt know much about his fathers family history until Eerkens contacted him about Edith. When the DNA testing came back as a match, It hit the roof for me. I was beaming ear-to-ear with the news, Cook said. Now the 82-year-old can share the Cook family history with his eight children, 13 grandchildren, and 10 great-grandchildren.

Principle researchers on this project in addition to Professors Eerkens and Green and Ms. Davey, include Dave Frederick, genealogist and cold case investigator based in Billings, Mt., genealogist Bob Phillips of Seattle, Wa., and Alex Snyder, transportation planner and public historian in San Francisco.

Link:
UC Santa Cruz genetics lab helps solve the mystery of 'Miranda Eve' - UC Santa Cruz (press release)

Oxford Genetics has licensed CRISPR gene editing technology from ERS Genomics. The agreement gives the British synthetic biology service provider the right to use CRISPR technology to improve gene therapy viral vectors and develop cell lines.

Oxford, United Kingdom-based Oxford Genetics has secured the nonexclusive rights to the CRISPR intellectual property. Oxford Genetics plans to use the technology to provide genome engineering services and support its cell line development and gene therapy viral vector R&D efforts. The agreement also clears Oxford Genetics to use the CRISPR-edited cells lines in the production of biotherapeutics. And to use CRISPR to develop research tools and reagents for sale.

News of the agreement comes almost exactly three years after Horizon Discovery licensed CRISPR intellectual property from ERS Genomics for use in similar applications. The nonexclusive deal between ERS Genomics and Horizon Discoverywhich is based 70 miles away from Oxford Genetics in Cambridgegave the genomics research business the right to use CRISPR to develop research tools, kits and reagents and in other applications.

ERS Genomics was cofounded by Emmanuelle Charpentier, Ph.D., one of the key players in the story of the discovery of the CRISPR-Cas9 immune system and its role in cleaving DNA. Charpentier set up the organization to facilitate access to the CRISPR-Cas9 intellectual property she holds. The firm is on the same side of the CRISPR patent dispute as CRISPR Therapeutics, Intellia Therapeutics and Caribou Biosciences. Together, the companies are appealing the U.S. patent boards ruling in the Broad Institute case.

The ruling looked at the question of whether the it was obvious to apply CRISPR to eukaryotic cells, such as the CHO and HEK293 cell lines Oxford Genetics uses in its cell line development services. But the uncertainty created by the ongoing patent dispute has not stopped Oxford Genetics from striking a deal to add CRISPR to its arsenal.

Licensing the CRISPR gene editing technology from ERS Genomics is another step on our journey to establishing the most efficient and integrated service portfolio in this sector. We are excited to be adding this technology to our existing portfolio in the synthetic biology space and supporting the rapidly expanding market for products and services that utilise genome engineering technologies, Paul Brooks, Ph.D., chief commercial officer at Oxford Genetics, said in a statement.

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Oxford Genetics licenses CRISPR tech to power synbio push - FierceBiotech

Yesterday, a panel of experts at BioTrinity discussed the huge possibilities offered by the young microbiome field, which could soon overtake genetics.

Scientists and investors worldwide are starting to turn to the microbiome, which many believe hold the key to human health. The microorganisms that live in us and on us have shown to play a role in conditions ranging from obesity to cancer and neurodegenerative disease. I think it is a bigger deal than genetics, says Tim Spector, CEO of Map my gut, a company that offers direct-to-consumer microbiome sequencing services. But he reckons that being such a new field, still driven by small companies, very few are collecting samples of the microbiome as they should.

Back in the early days of genetics, companies would not collect DNA samples because it was too much trouble regarding ethical permissions, storage, he says. Something very similar seems to be happening with the microbiome despite the huge links with health that have been observed. The science is now there, and its obvious that anyone doing a big trial should measure how patients with different microbiome profiles respond to drugs.

Theres good evidence that efficacy and adverse effects of checkpoint inhibitors are linked to specific bacteria, agrees Mike Romanos, CEO of Microbiotica. BMScertainly believes this, as it recently signed a partnership with Enterome to study checkpoint inhibitors in the context of micrbiome-related biomarkers.

But we still have to find out how to mine such a huge potential. We need to know whats going on with the bacteria down to the strain level to fully understand their phenotype, Romanos says. With that aim, his company is building a data repository, similar to those for the human genome.

It seems that the field is rapidly growing and overcoming the challenges. The number of publications has risen exponentially in the last couple of years, says Denise Kelly from Seventure, a French VC with the first and only fund fully dedicated to microbiome companies. In a chat with her later, she explained that France is a hub with excellent microbiology research, counting with companies like MaaT Pharmaand Eligo Biosciencein addition toEnterome. France also led the European MetaHIT project, which was one of the first to sequence the microbiome, much like the Human Genome Project did before.

Kelly highlighted the main challenge at the moment is understanding the mode of action of specific organisms and the metabolites they produce. The field is in a very early stage, there are just 6 or 7 companies in clinical stage worldwide. (Indeed, when we scouted companies to include in our microbiome infographic, they seemed to be few and far between!)

For her, the next step is getting from studying correlation to identifying causality, and she knows a couple of companies that can pinpoint causality, but couldnt disclose their names. She did mention, though, the progress made with FishTaco, a system developed at the University of Washington that can discern how much each species contribute to a disease phenotype.

Furthermore, Kelly thinks that the public is more motivated than ever to look after themselves, not just regarding disease but also maintaining a healthy lifestyle. The microbiome affects every aspect of human physiology. The market is currently at 500M, but it can be much bigger if we make the right discoveries quickly, she concluded.

Images from royaltystockphoto.com, WhiteDragon /Shutterstock

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Experts say the Microbiome could overtake Genetics as the Next Big Thing - Labiotech.eu (blog)

UPDATE 2-Brazil inflation hits lowest in nearly 10 years in April

(Adds data, market reaction, economist's comment) By Silvio Cascione BRASILIA, May 10 Brazil's annual inflation rate fell in April to its lowest level in nearly 10 years, bolstering the view of a steep interest rate cut by the central bank at the end of this month. Consumer prices rose 4.08 percent in the 12 months through April, slightly below market forecasts for a 4.10 percent increase and compared with an increase of 4.57 percent in the year to March, the national st

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BRIEF-Atossa Genetics says second positive interim review on Phase 1 study of endoxifen may advance to final topical ... - Reuters

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BRIEF-JK Agri Genetics posts March-qtr profit - Reuters

Myriad Genetics (NASDAQ:MYGN) is a developer of diagnostic medical products, with a focus on cancer testing to help identify patients who are most at risk due to their genetics.

Diagnostics are perhaps not quite as sexy as the exciting rollercoaster ride that is drug development. But MYGN has some exciting things brewing in the pot. Today, I want to take a look with you regarding their recent performance, and then I want to share some thoughts on where their growing platform for prostate cancer assessment is going.

First, some financial considerations

The company's portfolio and ongoing development of therapies and diagnostic tools are supported by the successful launch and commercialization of its hereditary cancer platform.

In fact, according to the latest quarterly filings from the company, this suite of products brought in $140 million in Q1 2017. Overall, the company remains in the black with operating income of roughly $13 million in the first quarter.

While it's not bad to be in the black, this is a further decline in total net income from the same period in 2016, which saw over $40 million in net operating income. This is due in large part to an ever-expanding field of competitors in the diagnostic space.

Thus, MYGN needs to have success in other areas if they are to continue growing. And its field of cancer-specific diagnostic tests seems to be an important area of growth for the company.

Myriad bringing it in force at the Urologic Meeting

To date, MYGN's Prolaris platform, which helps to assess risk of relapse in men with prostate cancer, has not fundamentally changed the bottom line for the company. Since its launch in 2010, Prolaris revenue now stands on the order of millions of dollars per quarter, with the most recent filing showing $3.4 million in sales for Q1 2017.

Compare that to Genomic Health's Oncotype DX, which raked in over $10 million in Q1 2016, for something approaching a similar comparison.

The feasibility of growing the Prolaris numbers hinges on being able to firmly establish a benefit for the test. As such, it is with much gusto that MYGN has announced four studies being presented at the American Urological Association 2017 meeting.

They include the following abstracts:

Let's consider each of these, one by one:

Evaluating the Prognostic Utility of the CCP Score for Predicting Prostate Cancer Aggressiveness in African American Men

While Prolaris has shown benefit for predicting prostate cancer outcomes in a number of settings, there's not much information specifically relating to outcomes for African American men. Thus, MYGN undertook a more focused analysis to confirm the utility in this minority population.

The study looked at a cohort of 694 men, 38% of whom were African American. It showed that the Prolaris score distribution did not differ significantly based on race. Furthermore, whereas race did not accurately predict the risk of the development of metastasis, the Prolaris score did in a multivariate analysis.

This suggests that the use of Prolaris can help make more informed decisions without relying on clinicopathologic information.

Prognostic Utility of Biopsy-Derived Cell Cycle Progression Score in Patients with NCCN Low-Risk Prostate Cancer Undergoing Radical Prostatectomy: Implications for Treatment

Information regarding the prognostic value of Prolaris in low-risk disease is also sparse, so MYGN looked at patients who met the national guideline classification for low-risk disease to see the risk of biochemical relapse, as stratified by Prolaris scoring criteria.

Interestingly, three risk groups according to Prolaris results (low, intermediate, high) had five-year BCR-free survival of 89.2%, 80.4%, and 64.7%, respectively, representing a significant predictive power.

These findings suggest that the Prolaris test can provide substantial fine-tuning of the risk classification for patients with prostate cancer who are defined as low risk. It remains to be seen, of course, how doctors would make use of these results, but it will be interesting to see later how predicting the risk of biochemical relapse translates into overall outcome for these patients.

The Impact of Clinical CCP Testing in Men with Localized Prostate Cancer for Expanding the Population of Men Eligible for Active Surveillance

"Active surveillance," the treatment strategy of "wait as long as you can before treating" can be very effective for helping men with prostate cancer avoid treatment-related toxicity while maintaining disease control. However, it is tricky to accurately point out which patients should take this approach.

In this study, samples from over 17,000 men were analyzed and correlated with outcome, defining a population who can forego treatment based on Prolaris score.

The most interesting finding in the study was that a certain proportion of patients who would be classified as "high risk" based on clinical variables had a low enough score that they would be candidates for active surveillance. In the "AUA" high-risk group, 14.1% of men would be good candidates.

This is important for helping to preserve patient quality of life and cost of treatment. If you can safely forego therapy for some extended period of time, that's less treatment burden on the patient. So this could prove to be a useful tool as it gains more validation.

Patient NCCN Risk Classification Based on Combined Clinical Cell Cycle Risk Score

In case it hasn't become clear, using clinical variables (such as Gleason score and NCCN risk criteria) can be a pretty blunt way to assess risk of treatment failure. One of the big goals of molecular diagnostics in numerous fields of treatment is to develop cleaner tools for analysis, especially in these tumors where patients can often expect to live for decades after diagnosis.

In this study, clinicopathologic features were measured against the Prolaris score to assess the risk of death by ten years post diagnosis. A large portion of men in the traditional risk subgroups were reclassified. For example, 25% of the "low-risk" cohort were actually in higher risk of relapse. 47% of those in the "intermediate-risk" population were reclassified, as well.

What this tells us is that, for a strong minority of patients, clinical features alone will give misleading information to doctors as they attempt to formulate an effective treatment plan. Incorporation of Prolaris score into the process can help fine-tune the stratification of risk. While the conclusions for treatment selection are not quite clear, the implication is that doctors will be able to use this information in the future when selecting treatment.

For example, if you're clinically low risk, but your Prolaris score says you might be at higher risk, then the doctor could select a more aggressive treatment strategy for you.

Conclusions

The studies presented at AUA 2017 add more fuel to the engine that MYGN is building up. It remains to be seen whether this will affect uptake of the Prolaris platform in the clinic, but with over 160,000 diagnoses of prostate cancer in the US alone, there is a deep potential market for this diagnostic platform.

If MYGN can continue to demonstrate the benefit of Prolaris in these patients, they should see growth in the platform. The big coups to come will be studies that correlate treatment outcomes with Prolaris score, since this information gives concrete guidance for doctors when selecting treatment. For this reason, the "active surveillance" study might be the most important for the bottom line, as it provides useful information that affects treatment decisions.

Prolaris will be one product to keep an eye on as part of your due diligence for MYGN.

Thank you for taking the time to read this article. If you are interested in getting my assessment of recent news, please consider becoming a follower of mine on Seeking Alpha. This will let you get real-time updates of when I publish new articles, including my daily digest of biotechnology findings and news called "3 Things in Biotech You Should Learn Today."

Disclosure: I/we have no positions in any stocks mentioned, and no plans to initiate any positions within the next 72 hours.

I wrote this article myself, and it expresses my own opinions. I am not receiving compensation for it (other than from Seeking Alpha). I have no business relationship with any company whose stock is mentioned in this article.

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Myriad Genetics Makes A Strong Case For Its Prolaris Test - Seeking Alpha

Kirsten Bonawitz

Hometown: Stevensville, Michigan Major: Neuroscience Minors: Biology, Chemistry Clubs/Organizations: The Community Empowerment Fund, Duke Emergency Medical Services volunteer, On Tap, Alpha Phi Omega, Bass Connections Student Advisory Council, Neurogenesis Journal publishing editor Any other Activities You Participated In: Research in the Chiba-Falek lab What Duke has meant to you: Life-long friendships and endless opportunities.

Helping people is genuinely part of Kirsten Bonawitzs nature. Through the Bass Connections follow-on grant she received, Kirsten worked on elucidating the role of genetics in the development of late-onset Alzheimers disease. I think I was really drawn by the emotional component that drives this kind of research because in the end, the main goal is to help people who suffer from devastating diseases such as Alzheimers, said Kirsten.

Get complete information about the history, events and schedule for all of graduation weekend at the commencement website.

During Kirstens research, she collected neurons from normal and mild-cognitive impairment human brain samples, extracted RNA for the purpose of gene expression analysis and initiated the collection of neurons from mild and severe Alzheimers samples. This approach will aid in determining at which point in disease progression and within which specific cells gene expression changes occur, explained Kirsten. This project plays and will continue to play an important role in my academic and professional career, she said.

Kirsten also served as a volunteer for Duke Emergency Medical Services. She is one of four pre-med students credited with saving a popular Duke professors life after he had a heart attack in Perkins Library in fall of 2015. Kirsten and the other EMS student volunteers resuscitated professor George Grody, who suffered from cardiac arrest. After graduating, Kirsten will work as a medical fellow in Guatemala with The Global Public Service Academies. She also plans to apply to medical school.

Read more about Kirsten.

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Kirsten Bonawitz: Drawn to Genetics and Alzheimer's Disease Research - Duke Today

Most cases of Moebius syndrome are spontaneous, with no family history and no known genetic cause. In certain rare cases, the disorder has been associated with defects in chromosomes 3, 10, and 13. The Online Mendelian Inheritance in Man (OMIM) database lists the gene map locus 13q12.2-q13 as having significance for Moebius syndrome.

Mutations of the genes PLXND1 and REV3L have also been pinpointed as being associated with Moebius syndrome, based on animal studies showing nerve deficits typical of the syndrome when mutations of those genes are introduced in animals.

The significance of the genes PLXND1 and REV3L is as yet unknown, and their involvement sheds little light on the origins of the disease, since they regulate different pathways. PLXND1 is connected to neural migration during hindbrain development and REV3L plays a role in DNA translesion synthesis, a process which repairs damaged DNA.

PLXND1 has been mapped to chromosome 3q22.1. A novel mutation of PLXND1 was found in a patient diagnosed with Moebius syndrome in 2015. Sequencing in 103 patients with Moebius syndrome identified one additional patient with a mutation of PLXND1.

Conflicting studies have mapped REV3L to 1p33-32 and chromosome 6q21. A variant of REV3L leading to decreased levels of the normal REV3L transcript was found in a patient diagnosed with Moebius syndrome in 2015. That same variant was found in sequencing studies in 6 other unrelated patients with Moebius syndrome. In another study 103 patients with Moebius syndrome were sequenced and 2 were identified with a new variant of the REV3L gene.

In rare cases where Moebius syndrome shows a familial inheritance pattern, it is inherited as an autosomal dominant trait. That means a single copy of the abnormal gene results in the manifestation of the disease and there is a 50% chance of passing it on to the offspring.

In one family, six people in two generations had palsy of cranial nerves VI and/or VII with skeletal or digital malformations. Nine others had digital anomalies without the cranial nerve involvement. Another family had three members with features of Moebius syndrome with mental retardation. However, these cases of inheritance are very rare.

Defects of chromosomes 1p34 and 13q13 were found in one family which had facial diplegia and flexion finger contractures in 7 members across 3 generations. In another case, a two-year-old girl with Moebius syndrome had a deletion of 13q12.2. These cases suggest that chromosome 13q12.2-q13 is of significance.

One boy with symptoms of Moebius syndrome had a reciprocal translocation on chromosomes 1 and 2. The locus a 1p22 was switched with 2q21.1.

In another case, Moebius syndrome with cleft palate, dextrocardia, mandibular hypoplasia, brain volume loss, and Poland syndrome was associated with another translocation involving 1p22. In that case, it was switched with 11p13. These cases may implicate 1p22 as a genetic cause of Moebius syndrome.

Thus genetic mutation, or a combination of one or more mutations and environmental factors, may cause a developmental defect of the hindbrain. This may occur through mechanisms such as disruption of blood flow to the brain during fetal development, leading to the manifestation of Moebius syndrome at birth.

Reviewed by Liji Thomas, MD

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Genetics and Inheritance of Moebius Syndrome - News-Medical.net

8 May 2017, 9:40 a.m.

Glenisa Angus Studs 2017 catalogue boasts 44 young black bulls that are the sons of 11 individual sires sourced from Australia and overseas

Top line-up: Aaron and Ced Wise, Glenisa Angus Stud, Glen Aplin with a group of youngsters destined for the annual Glenisa Angus Sale, on May 12. Photo: Kent Ward

Glenisa Angus Studs 2017 catalogue boasts 44 young black bulls that are the sons of 11 individual sires sourcedfrom Australia and overseas.

Eleven international, colonial and homebred sires feature in the annual sale, held at 1pm on May 12 at Glenisa,Glen Aplin, Queensland.

Vendors, Ced and Rowena Wise and family have been buoyed by client feedback and increaseddemand for their physical product due to the change of date at the 2016 sale.

Last year, bulls soldto areas of the tablelands between Glen Innes and Stanthorpe, all parts of the northern rivers ofNSWand as far north as central Queensland.

Sires represented include new global introductions in the form of Sydgen Black Pearl 2006, SChisum 6175, Sitz Upward 307R, Jindra Double Vision and Remitall H Rachis 21R.

Thesebulls are joined by outsourced introductions like DSK GDK Good Go G133, RaffDynamite G156, DSK RR Feel Good F36 (AI,ET) and Booroomooka Hyperno H605 (AI) alongwith the homebred retaineeS, Glenisa Felix F017 (AI, ET) and Frederick F009 (AI, ET).

All on offer have been vaccinated with three day, blooded with three germ, five in one and vibrio.The entire team has been semen tested and soundness evaluated and tested Pestivirus negative.

The bulls preparation is one of a silage diet for nearly three months. Theyhave current Angus Group Breedplan figures, scan data including live weight, scrotalmeasurements.

Run and grown out on local harder country, the bullsgut has been fully protectedwith a growing out period and they have been educated and handled and worked with dogs,horses and bikes.

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Global genetics - The Northern Daily Leader