Kristin Comella, Chief Science Officer

Chronic obstructive pulmonary disease (COPD) is the fourth leading cause of death in the United States, and is projected to be the third by 2020. COPD is associated with an exaggerated chronic inflammatory response causing airway abnormalities. Patients typically undergo a progression of declining lung function, characterized by an increase of cough, shortness of breath, and mucus production. Extra-pulmonary manifestations of COPD include osteoporosis, cardiovascular disease, skeletal muscle abnormalities, and depression. There is currently no cure and the manifestations can only be treated symptomatically. It afflicts more than 5% of the population in many countries and accounts for more than 600 billion in health care costs, morbidity, and mortality.

Adult stem cells are found in every part of the body and their primary role is to heal and maintain the tissue in which they reside. Stem cells are unspecialized cells capable of renewing themselves by cell division. In addition, they have the ability to differentiate into specialized cell types. Adult stem cells can be harvested from a patients own tissue, such as adipose (fat) tissue, muscle, teeth, skin or bone marrow. One of the most plentiful sources of stem cells in the body is the fat tissue. In fact, approximately 500 times more stem cells can be obtained from fat than bone marrow. Stem cells derived from a patients own fat are referred to as adipose-derived stem cells (ADSCs). Adipose derived stem cells have been explored with respect to their activity in diseases involving significant inflammatory or degenerative components. More recently, adult stem cells have been identified as having the potential to reverse the effects of diseases like COPD.

The mixed population of cells that can be obtained from fat is called a stromal vascular fraction (SVF). The SVF can easily be isolated from fat tissue in approximately 30-90 minutes in a clinic setting (under local anesthesia) using a mini-lipoaspirate technique. The SVF contains all cellular elements of fat, excluding adipocytes. Tens to hundreds of millions of ADSCs can be obtained in the context of the SVF acquired from 20-200 ml of adipose tissue during this out-patient procedure. This sets the stage for their practical use at the point-of-care, in which a preparation of ASC can be provided for infusion or injection after the mini-liposuction. COPD patients who have undergone stem cell therapies often express the willingness to receive additional cell infusions if possible, due to a feeling of well-being associated with the injection. There is early evidence of feasibility and safety of infusions into the patients with COPD. In relevant studies, intravenous infusion of cultured adipose stem cells has been demonstrated to remarkably improve the onset and progression of smoke exposure-induced emphysema in rodents.

Stem cells possess enormous regenerative potential. The potential applications are virtually limitless. Patients can receive cutting edge treatments that are safe, compliant, and effective. Our team has successfully treated over 7000 patients with very few safety concerns reported. One day, stem cell treatments will be the gold standard of care for the treatment of most degenerative diseases. We are extremely encouraged by the positive patient results we are seeing from our physician-based treatments. Our hope is that stem cell therapy will provide relief and an improved quality of life for many patients. The future of medicine is here!

For additional information on Stem Cell Centers of Excellences South Miami clinic, visit http://www.stemcellcoe.com.

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Stem Cells Offer New Solutions for Lung Disease - Miami's Community Newspapers

Recommendation and review posted by sam

Scientists in Australia have used a 3D printer to create nerve cells found in the brain using a special bio-ink made from stem cells.

The research takes us a step closer to making replacement brain tissue derived from a patients own skin or blood cells to help treat conditions such as brain injury, Parkinsons disease, epilepsy and schizophrenia.

The bio-ink is made of human induced pluripotent stem cells (iPSC), which have the same power as embryonic stem cells to turn into any cell in the body, and possibly form replacement body tissues and even whole organs.

3D printing with bio-ink (ABC News)

[Jeremy Crookfrom the University of Wollongong stated]many neuropsychiatric disorders result from an imbalance of key chemicals called neurotransmittersFor example, he said, defective serotonin and GABA-producing nerve cells are implicated in schizophrenia and epilepsy[Thus] the team used 3D printing to make neurones involved in producing GABA and serotonin.

Apart from providing customized transplants, 3D printed tissue could be useful for medical research.

For example, tissue from a patient with epilepsy or schizophrenia could be created, specifically to study their particular version of the condition.

You can compare how neuronal networks form differently compared to healthy patient, said Dr Crook.

[Read the full study here]

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post:Scientists create 3D-printed brain-like tissue from stem cells

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3D printed brain-like tissue made from stem cells offers hope to address neurological disorders - Genetic Literacy Project

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By Kevin Orland on 7/31/2017

CALGARY (Bloomberg) -- TransCanada Corp. said it still expects commercial support for its controversial Keystone XL oil pipeline, tamping down speculation that it was having trouble finding customers for thelong-delayed line.

Keystone XL, which was rejected by the Obama administration before being revived by President Donald Trump this year,would boost TransCanadas dividend growth, the company said in a statement Friday. Media reports in recent weeks said that the company was having trouble signing up customers for the pipeline, conceived to help move crude from Albertas oil sands to refineries on the U.S. Gulf Coast.

TransCanada said earlier this year that it was working to sign new shippers following years of delays. Given the time it took to gain federal approval, TransCanada said it expected some shippers to reduce their volume commitments and that other new customers would be introduced. The company said on Thursday that its soliciting additional commitments to ship oil on Keystone XL.

Weve had good support from our legacy shippers, which gives us a good base to launch this open season, Paul Miller, TransCanadas president of liquids pipelines, said on a conference call.

The open season closes on Sept. 28, with the results of the process expected to be finalized in late November, Miller said. The company should also receive its regulatory decisions from Nebraska around that time and will weigh both of those factors in determining whether to proceed with the line, he said. If TransCanada decides to move ahead on Keystone XL, it would need six to nine months to prepare for construction and about two years to build it, he said.

The shares were up 0.2% at C$63.66 as of 1:44 p.m. in Toronto. Calgary-based TransCanada gained 5% this year through Thursday.

Dividend growth

Success in advancing Keystone XL or other growth initiatives such as the Bruce Power life extension may augment or extend the companys dividend growth outlook, CEO Russ Girling said in the statement. The company plans to increase its annual dividend at the upper end of an 8% to 10% range through 2020.

Keystone won votes of confidence from the chief executive officers of Canadian oil producers Cenovus Energy Inc. and Suncor Energy Inc. this week. The CEOs both said they support Keystone and that the Canadian energy industry needs more pipeline capacity. Suncor confirmed that it plans to ship its products on Keystone.

Albertas oil producers have long warned that a lack of pipeline space was hurting their prospects. That pipeline pinch may start to hit the industry later this year as Suncors massive Fort Hills oil-sands project starts to produce oil and Canadian Natural Resources Ltd. completes another phase of expansion at its Horizon mine.

Beyond Keystone

Looking beyond Keystone, TransCanada is spending C$2 billion ($1.6 billion) to expand its natural gas pipeline network in Western Canada. The upgrades to the Nova Gas system will include 171 mi (275 km) of new pipeline, additional compression and new metering stations.

The company said on Friday that it was applying to the National Energy Board to expand capacity on its Canadian Mainline, which carries natural gas from producers in Alberta to markets in the nations east. The company would spend about C$160 million on the project, which is underpinned by 15-year contracts.

TransCanadas second-quarter profit was 76 Canadian cents a share, excluding some items. Theaverage estimate of analysts surveyed by Bloomberg was 68 cents.

Continued here:
TransCanada still sees producer support for Keystone XL - WorldOil (subscription)

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Global Hormone Replacement Therapy Market: Overview

The medical treatment where the patients receive hormones to substitute the naturally occurring hormones with the other hormones or to add naturally occurring hormones that are absent is known as hormone replacement therapy. In the females that are at the stage of menopause, hormone replacement therapy is used to restore female hormone levels, so that the body functions normally.

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Global Hormone Replacement Therapy Market: Segmentation

The global hormone replacement therapy is fragmented into therapy type, distribution channel, and application. On the basis of a therapy type, the global market is segregated into estrogen replacement therapy, thyroid hormone replacement, and growth hormone replacement. The thyroid hormone replacement segment is further sub-segmented into tablets, injections, and capsules. The growth hormone replacement segment is sub-categorized into somatostatin analogs and dopamine agonist. On the basis of the distribution channel, the market is categorized into e-commerce, retail pharmacies and drugstores, hospital pharmacies, compounding pharmacies, and others. On the basis of application, the market is divided into hypothyroidism, menopause, cancer, hypopituitarism, and others.

Global Hormone Replacement Therapy Market: Growth Factors

The key factors that are driving the hormone replacement therapy market are enlarged demand for the regenerative medicines which include reproductive-cycle boosting and anti-aging. The market is being positively impacted due to the increasing demand from other therapeutic areas which include thyroid hormone therapy and growth hormone therapy as the hormone replacement therapy is comparatively safe and efficient method and is cost effective. The other benefits that are associated with the hormone replacement therapy include minimum risk incidence of cardiovascular disease, osteoporosis, and vasomotor symptoms are also reduced thus expecting to fuel the growth of hormone replacement therapy market. The limitations of the hormone replacement therapy market include the side effects that are involved in this therapy such as fluid retention, indigestion, headache, and depression thus hindering the popularity of the therapeutic area.

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Global Hormone Replacement Therapy Market: Regional Analysis

Regional diversification of the hormone replacement therapy market is given as follows Asia Pacific, Latin America, the Middle East & Africa, Western Europe, Eastern Europe, and North America. The region that is dominating the hormone replacement therapy market is North America, which is due to the fact that the U.S has the largest market owing to the popularity of the therapy among the patients that are aged 35 years and above. The factors that are contributing to the market growth in this region are increasing disposable income, early aging, and the availability of compounded drugs. In the coming years, the hormone replacement therapy market will grow speedily in Asia Pacific region owing to the increasing awareness among the people. The emerging nations such as India, Japan, and China will contribute largely to the market growth.

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Global Hormone Replacement Therapy Market: Competitive Players

The key market players that are involved in the hormone replacement therapy market include Pfizer, BioSante Pharmaceuticals and Amgen, Noven Pharmaceuticals, Bayer AG, Merck & co., and QuatRx Pharmaceuticals.

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Hormone Replacement Therapy Market: Industry Players to Show High Growth Rate by 2024 - Monotone Critic

Recommendation and review posted by Bethany Smith

Xconomy Boston

A leading genome-editing researcher is urging extra caution as drug companies race to turn the landmark technology he helped create into human medicine.

In a paper published today in Nature Medicine, Feng Zhang of the Broad Institute of MIT and Harvard and colleague David Scott argue that researchers should analyze the DNA of patients before giving them experimental medicines that alter their genes with the breakthrough technology CRISPR. The suggestion, among others in the paper, stems from a deeper look at the wide array of subtle differences in human DNA.

Zhang is a key inventor of CRISPR-Cas9, which describes a two-part biological system that slips into the nucleus of cells and irreversibly alters DNA. One part is an enzyme, natures molecular scissors, which cuts DNA. The second part is a string of ribonucleic acid (RNA) that guides the enzyme to the proper spot. In five years since its invention, CRISPR-Cas9 has become a mainstay of biological research, and researchers including Zhang (pictured above) have moved quickly to improve upon its components. His work is at the center of a long-running patent battle to determine ownership of the technology.

Zhang and Scotts recommendation taps into a long-running debate in the gene-editing field about off-target effectsthe fear of misplaced cuts causing unintended harm. Most recently, the FDA took up a similar issue at a meeting to assess a type of cell therapy, known as CAR-T, for kids with leukemia. The FDA highlighted the risk that the cells, which have certain genes edited to make them better cancer fighters, may cause secondary cancers long after a patients leukemia has been cured. (FDA advisors unanimously endorsed the therapys approval nonetheless.)

Some researchers say there should be near certainty that gene altering techniques wont go awry before testing in humans, caution that stems in part from gene therapy experiments in the U.S. and Europe nearly 20 years ago that killed an American teenager and triggered leukemia in several European boys.

While no medicine is risk-free, other researchers say the tools to gauge risk have improved.

Andy May, senior director of genome engineering at the Chan Zuckerberg Biohub in San Francisco, calls Zhang and Scotts recommendation for patient prescreening a good discussion point, but the danger is someone will pick up on this and say you cant push forward [with a CRISPR drug] until everyone is sequenced.

Its an extremely conservative path to take, says May, who until recently was the chief scientific officer at Caribou Biosciences, a Berkeley, CA-based firm in charge of turning the discoveries of UC Berkeleys Jennifer Doudna and her colleagues into commercial technology. (May was also a board member of Cambridge, MA-based Intellia Therapeutics (NASDAQ: NTLA), which has exclusive license to use Caribous technology in human therapeutics.)

Berkeley is leading the challenge to Zhangs CRISPR patents and last week filed the first details in its appeal of a recent court decision in favor of Zhang and the Broad Institute.

Zhang sees prescreening as a form of companion diagnostic, which drug companies frequently use to identify the right patients for a study. A whole genome sequencewhich costs about $1,000could filter out patients unlikely to benefit from a treatment or at higher risk of unintended consequences, such as cancer. In the long run, it could also encourage developers to create more variations of a treatment to make genome-editing based therapeutics as broadly available as possible, said Zhang.

Its well known that human genetic variation is a hurdle in the quest to treat genetic diseases either by knocking out disease-causing genes or replacing them with healthy versions. But Zhang and Scott use newly available genetic information to deepen that understanding. In one Broad Institute database with genetic information from more than 60,000 people, they find one genetic variation for every eight letters, or nucleotides, in the exomethat is, the sections of DNA that contain instructions to make proteins. (There are 6 billion nucleotides in each of our cells.) The wide menu of differences is, in effect, an open door to misplaced cuts that CRISPRs enzymes might be prone to.

Zhang and others are working on many kinds of enzymes, from variations on the workhorse Cas9, to new ones entirely. He and Scott found that the deep pool of genetic variation makes some forms of the Cas enzyme more likely than others to go awry, depending on the three-nucleotide sequence they lock onto in the targeted DNA.

Zhang and Scott write that CRISPR drug developers should avoid trying to edit DNA strings that are likely to have high variation. In their paper, they examine 12 disease-causing genes. While more common diseases, such as those related to high cholesterol, will contain higher genetic variation because of the broader affected population, every gene, common or not, contains regions of high and low variation. Zhang and Scott say developers can build strategies around the gene regions they are targeting.

For example, going after a more common disease might require a wider variety of product candidates, akin to a plumber bringing an extra-large set of wrenches, with finer gradations between each wrench, to a job site with an unpredictable range of pipe sizes.

CRISPR companies say they are doing just that. We have always made specificity a fundamental part of our program, says Editas Medicine CEO Katrine Bosley. Zhang is a founder of Editas (NASDAQ: EDIT), which has exclusive license to the Broads Next Page

Alex Lash is Xconomy's National Biotech Editor. He is based in San Francisco.

Continued here:
CRISPR Pioneer Zhang Preaches Extra Caution In Human Gene ... - Xconomy

Recommendation and review posted by Bethany Smith

Theres still a way to go from editing single-cell embryos to a full-term designer baby. Credit: ZEISS Microscopy, CC BY-SA

The announcement by researchers in Portland, Oregon that they've successfully modified the genetic material of a human embryo took some people by surprise.

With headlines referring to "groundbreaking" research and "designer babies," you might wonder what the scientists actually accomplished. This was a big step forward, but hardly unexpected. As this kind of work proceeds, it continues to raise questions about ethical issues and how we should we react.

What did researchers actually do?

For a number of years now we have had the ability to alter genetic material in a cell, using a technique called CRISPR.

The DNA that makes up our genome comprises long sequences of base pairs, each base indicated by one of four letters. These letters form a genetic alphabet, and the "words" or "sentences" created from a particular order of letters are the genes that determine our characteristics.

Sometimes words can be "misspelled" or sentences slightly garbled, resulting in a disease or disorder. Genetic engineering is designed to correct those mistakes. CRISPR is a tool that enables scientists to target a specific area of a gene, working like the search-and-replace function in Microsoft Word, to remove a section and insert the "correct" sequence.

In the last decade, CRISPR has been the primary tool for those seeking to modify genes human and otherwise. Among other things, it has been used in experiments to make mosquitoes resistant to malaria, genetically modify plants to be resistant to disease, explore the possibility of engineered pets and livestock, and potentially treat some human diseases (including HIV, hemophilia and leukemia).

Up until recently, the focus in humans has been on changing the cells of a single individual, and not changing eggs, sperm and early embryos what are called the "germline" cells that pass traits along to offspring. The theory is that focusing on non-germline cells would limit any unexpected long-term impact of genetic changes on descendants. At the same time, this limitation means that we would have to use the technique in every generation, which affects its potential therapeutic benefit.

Earlier this year, an international committee convened by the National Academy of Sciences issued a report that, while highlighting the concerns with human germline genetic engineering, laid out a series of safeguards and recommended oversight. The report was widely regarded as opening the door to embryo-editing research.

That is exactly what happened in Oregon. Although this is the first study reported in the United States, similar research has been conducted in China. This new study, however, apparently avoided previous errors we've seen with CRISPR such as changes in other, untargeted parts of the genome, or the desired change not occurring in all cells. Both of these problems had made scientists wary of using CRISPR to make changes in embryos that might eventually be used in a human pregnancy. Evidence of more successful (and thus safer) CRISPR use may lead to additional studies involving human embryos.

What didn't happen in Oregon?

First, this study did not entail the creation of "designer babies," despite some news headlines. The research involved only early stage embryos, outside the womb, none of which was allowed to develop beyond a few days.

In fact, there are a number of existing limits both policy-based and scientific that will create barriers to implanting an edited embryo to achieve the birth of a child. There is a federal ban on funding gene editing research in embryos; in some states, there are also total bans on embryo research, regardless of how funded. In addition, the implantation of an edited human embryos would be regulated under the federal human research regulations, the Food, Drug and Cosmetic Act and potentially the federal rules regarding clinical laboratory testing.

Beyond the regulatory barriers, we are a long way from having the scientific knowledge necessary to design our children. While the Oregon experiment focused on a single gene correction to inherited diseases, there are few human traits that are controlled by one gene. Anything that involves multiple genes or a gene/environment interaction will be less amenable to this type of engineering. Most characteristics we might be interested in designing such as intelligence, personality, athletic or artistic or musical ability are much more complex.

Second, while this is a significant step forward in the science regarding the use of the CRISPR technique, it is only one step. There is a long way to go between this and a cure for various disease and disorders. This is not to say that there aren't concerns. But we have some time to consider the issues before the use of the technique becomes a mainstream medical practice.

So what should we be concerned about?

Taking into account the cautions above, we do need to decide when and how we should use this technique.

Should there be limits on the types of things you can edit in an embryo? If so, what should they entail? These questions also involve deciding who gets to set the limits and control access to the technology.

We may also be concerned about who gets to control the subsequent research using this technology. Should there be state or federal oversight? Keep in mind that we cannot control what happens in other countries. Even in this country it can be difficult to craft guidelines that restrict only the research someone finds objectionable, while allowing other important research to continue. Additionally, the use of assisted reproductive technologies (IVF, for example) is largely unregulated in the U.S., and the decision to put in place restrictions will certainly raise objections from both potential parents and IVF providers.

Moreover, there are important questions about cost and access. Right now most assisted reproductive technologies are available only to higher-income individuals. A handful of states mandate infertility treatment coverage, but it is very limited. How should we regulate access to embryo editing for serious diseases? We are in the midst of a widespread debate about health care, access and cost. If it becomes established and safe, should this technique be part of a basic package of health care services when used to help create a child who does not suffer from a specific genetic problem? What about editing for nonhealth issues or less serious problems are there fairness concerns if only people with sufficient wealth can access?

So far the promise of genetic engineering for disease eradication has not lived up to its hype. Nor have many other milestones, like the 1996 cloning of Dolly the sheep, resulted in the feared apocalypse. The announcement of the Oregon study is only the next step in a long line of research. Nonetheless, it is sure to bring many of the issues about embryos, stem cell research, genetic engineering and reproductive technologies back into the spotlight. Now is the time to figure out how we want to see this gene-editing path unfold.

Explore further: In US first, scientists edit genes of human embryos (Update)

This article was originally published on The Conversation. Read the original article.

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Editing human embryos with CRISPR is moving ahead now's the ... - Phys.Org

Recommendation and review posted by simmons

JoAnne Viviano The Columbus Dispatch @JoAnneViviano

Dennis Matko was headed for a knee replacement when he discovered a new therapy that would instead inject his own stem cells and plasma into the joint to help prevent degradation.

The 69-year-old Clintonville resident said he had been pretty active in his 50s, leading to problems with the right knee. He eventually had his meniscus removed. He had been through physical therapy, cortisone shots and gel injections, but the pain persisted.

The therapy, he said, was a no-brainer. He was sold because the procedure involved putting his own fluids into his body with no foreign objects and no drugs.

Dr. Joe Ruane, the orthopedic doctor who treated Matko, introduced the therapy at OhioHealth, but there are a number of places using the therapy around the state and country.

It's used to treat people with osteoarthritis, the type of arthritis caused by wear and tear.

Ruane said that the need for total knee replacements in the U.S. is expected to climb by 600 percent in the next 20 years, and there is concern that there might not be enough surgeons to perform the procedures.

We need an alternative, and patients are looking for alternatives, and given the choice between a knee replacement and an injection, many patients would choose an injection, he said.

The treatment involved removing Matkos bone marrow from the back of his pelvic bone, a process done in the office under general anesthesia. The marrow was then processed to form a concentrate of stem cells and other growth factors.

Matko also had blood drawn to create platelet-rich plasma, which acts as a signaling system to get the stem cells to respond.

Ruane injected both components into the knee, delivering more than 100 stimulating and growth factors to the joint.

Ruane said the process inhibits irritating chemicals that contribute to inflammation, decreases the activity of enzymes that break down cartilage, and helps the knee to make some of its own joint fluid again.

And, to a small degree, it does help regrow some of the tissue in the knee that has been destroyed by the arthritis, Ruane said.

The procedures are most effective in young patients with early arthritis, said Dr. Adolph Lombardi of Joint Implant Surgeons in New Albany, where stem-cell and platelet-rich plasma injections are offered as separate therapies. It won't help with bone-on-bone disease, he said.

While other injections might offer short-term pain relief, platelet-rich plasma has been shown to offer a full year of relief, said Lombardi, who works with the Mount Carmel Health System. The idea is that bone-marrow stem cells, when injected into a hip or knee, can differentiate into cartilage cells and help with regeneration.

"All of this is very new but it seems to be extremely promising," Lombardi said. "This is using their own bodies' healing potential to maintain cartilage and relieve pain."

Dr. Michael Baria performs the procedure at Wexner Medical Center at Ohio State University, where the bone-marrow and platelet-rich plasma injections also are offered as separate treatments. He agreed that the hope with the bone-marrow injections is that the stem cells turn into cartilage cells, improving or halting the osteoarthritis disease.

But in his experience, the treatment is helpful for patients with advanced disease.

"The most common patient we see for this is going to be in late-stage arthritis, so kind of at the end of their rope," Baria said. "Platelet-rich plasma is usually not as good for bone-on-bone arthritis. Bone marrow doesnt seem to be limited by bone on bone."

The body has trouble healing arthritis because cartilage doesnt get enough blood supply, Ruane said. Injecting the stem cells boosts the bodys own process.

While platelet-rich plasma has been shown to decrease inflammation, stem-cell use is newer and has yet to be proven effective, Baria noted.

OhioHealth andJoint Implant Surgeons are currently in the midst of controlled randomized trials, hoping to prove the effectiveness of the procedures and obtain approval from the U.S. Food and Drug Administration.

Unless that happens, the procedure will be considered experimental, and insurance doesnt cover costs. Matko paid $2,800 for the injections at OhioHealth.

Before the treatment, Matko was having trouble with mundane things like going up and down stairs and with other activities, such as taking hikes or walks with his wife or working out. A retired police officer, he now works as a business consultant and spends a lot of time on his feet, so he was looking for better mobility there as well.

Matko said the injections have helped his knee, which is getting progressively better over time. He said hes been able to increase his activity, getting back to the gym and taking hikes and walks. He has minimal pain climbing stairs and hes more comfortable in his work.

Im not saying its all better but its much better, Matko said. Its headed in the right direction.

He realizes the treatment is not a cure.

Im not looking for a miracle, he said. I just want to forestall problems as long as possible.

.

.

jviviano@dispatch.com

@JoAnneViviano

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Patients' plasma, stem cells help knee problems - The Columbus Dispatch

Recommendation and review posted by sam

BrainStorm Cell Therapeutics of Petah Tikva is recruiting American patients for a Phase 3 clinical study of its NurOwn stem-cell treatment intended to halt progression of amyotrophic lateral sclerosis (ALS).

The announcement was made in a patient webinar last week.

The NurOwn platform grew out of a technique developed at Tel Aviv University for growing and enhancing stem cells harvested from patients own bone marrow. The enhanced cells, injected via lumbar puncture, secrete elevated levels of nerve-growth factors believed to protect existing motor neurons, promote motor neuron growth and reestablish nerve-muscle interaction.

A 24-week Phase 2 safety study was concluded in 2016 on 48 participants (36 treated, 12 placebo) with possible, probable and definite ALS. This study was done at the University of Massachusetts Medical School, Massachusetts General Hospital and the Mayo Clinic.

The Phase 3 double-blind, placebo-controlled study, to begin enrollment in August, will look at efficacy and safety of repeated doses. The California Institute for Regenerative Medicine has awarded Brainstorm a $16 million grant to support the pivotal trial.

This study will accept 200 randomized study participants between the ages of 18 and 60 (half getting the treatment and half a placebo) at the three previous centers as well as California Pacific Medical Center in San Francisco, UC-Irvine near Los Angeles and another site not announced.

Potential participants must live within about 100 miles of one of the centers for ease of follow-up. They will receive three doses over a 16-week treatment phase and then undergo 28 weeks of follow-up.

BrainStorm President and CEO Chaim Lebovits said he hopes to get approval by the end of the year for a hospital exemption program in Israel an accelerated regulatory pathway that would clear the way for a first batch of 50 patients to receive NurOwn at Tel Aviv Sourasky Medical Center. However, there will be no compassionate treatment using NurOwn in Israel or elsewhere.

The NurOwn platform technology also has potential applications in any neurodegenerative disease, such as multiple sclerosis and Parkinsons.

For more information, click here.

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ALS treatment to begin Phase 3 clinical trials in US - ISRAEL21c

Recommendation and review posted by simmons

A stem cell-based method created by University of California, Irvine scientists can selectively target and kill cancerous tissue while preventing some of the toxic side effects of chemotherapy by treating the disease in a more localized way.

Weian Zhao, associate professor of pharmaceutical sciences, and colleagues have programmed human bone marrow stem cells to identify the unique physical properties of cancerous tissue. They added a piece of code to their engineered cells so that they can detect distinctively stiff cancerous tissue, lock into it and activate therapeutics.

In a study appearing inScience Translational Medicine, the researchers report they have effectively and safely employed this stem cell-targeting system in mice to treat metastatic breast cancer that had spread to the lung. They first transplanted the engineered stem cells to let them find and settle into the tumor site where they secreted enzymes called cytosine deaminase. The mice were then administered an inactive chemotherapy called prodrug 5-flurocytosine, which was triggered into action by the tumor site enzymes.

Zhao said his team specifically focused on metastatic cancer, which comes when the disease spreads to other parts of the body. Metastatic tumors are particularly deadly and the cause of 90 percent of cancer deaths.

This is a new paradigm for cancer therapy, Zhao said. We are going in a direction that few have explored before, and we hope to offer an alternative and potentially more effective cancer treatment.

Zhao added that this stem cell-targeting approach can provide an alternative to many forms of chemotherapy, which has a number of bad side effects. While this widely used method is powerful enough to kill rapidly growing cancer cells, it also can harm healthy ones.

Our new type of treatment only targets metastatic tissue, which enables us to avoid some of conventional chemotherapys unwanted side effects, said Zhao, who is a member of the Chao Family Comprehensive Cancer Center and the Sue & Bill Gross Stem Cell Research Center at UCI.

This published work is focused on breast cancer metastases in the lungs, he added. However, the technology will be applicable to other metastases as well, because many solid tumors have the hallmark of being stiffer than normal tissue. This is why our system is innovative and powerful, as we dont have to spend the time to identify and develop a new genetic or protein marker for every kind of cancer.

So far, the Zhao team has done preclinical animal studies to demonstrate that the treatment works and is safe, and they hope to transition to human studies in the near future. They are currently expanding to include other type of cells, including cancer tissue-sensing, engineered immune-system T cells (called CAR-T) to treat metastasizing breast and colon cancers. They also plan to transform the technology for other diseases such as fibrosis and diabetes, which result in stiffening of otherwise healthy tissue.

Along with Zhao, UCI doctoral students Linan Liu and Shirley Zhang, are co-leading authors of the study. The National Institutes of Health, the Department of Defense, the American Cancer Society and the California Institute for Regenerative Medicine provided support.

Read more from the original source:
Stem Cell Therapy Attacks Cancer by Targeting Unique Tissue ... - R & D Magazine

Recommendation and review posted by Bethany Smith

BALTIMORE Although there are medications to treat depression, many scientists arent sure why theyre effective and why they dont work for everyone.

Researchers at the University of Maryland School of Medicine believe they may have found a key to the puzzle of major depression that could lead to therapies for those who dont respond to medications already on the market.

A study by the researchers has identified the central role a gene known as Slc6a15 plays in either protecting from stress or contributing to depression, depending on its level of activity in a part of the brain associated with motivation, pleasure and reward seeking.

Published in the Journal of Neuroscience in July, the study is the first to illuminate in detail how the gene works in a kind of neuron that plays a key role in depression, the according to the medical school.

Specifically, the researchers found that mice with depression had reduced levels of the genes activity, while those with high levels of the genes activity handled chronic stress better.

Though senior researcher Mary Kay Lobos primary studies were done with mice, she also examined the brains of people who had committed suicide and found reduced levels of the genes activity, confirming a likely link.

She hopes now that drugs could be developed that would encourage the genes activity.

I thought it was fascinating we had this system in place that allows us to go after things or be motivated or have pleasure and I was interested in how it becomes dysfunctional in certain diseases like depression, Lobo said. I hope that we can identify molecules that could potentially be therapeutically treated or targeted to treat depression.

Lobo and her colleagues have been examining the gene for years. In 2006, they discovered that it was more common among specific neurons in the brain that they later learned were related to depression. Five years later, other researchers learned that the gene played a role in depression and Lobo and her research colleagues decided to investigate what that role is in those specific neurons.

About 15 million adults, or 6.7 percent of all U.S. adults, experience major depression in a given year, according to the Anxiety and Depression Association of America. It is the leading cause of disability for Americans ages 15 to 44. It is more prevalent in women and can develop at any age, but the median age of onset is 32.5.

David Dietz, an associate professor in the Department of Pharmacology and Toxicology at the State University of New York at Buffalo, said little was known previously about the biological basis of depression in the brain. Many drugs used to treat depression were discovered serendipitously, he said, and it wasnt clear why they worked.

Were starting to really get an idea of what does the depressed brain look like, Dietz said. When you put the whole puzzle together, you see where the problem is. For too long weve been throwing things at individual pieces. Its so complex and we have so little information that it was almost bound to be that way. For the first time this is one of those bigger pieces you can slide into the jigsaw puzzle.

Lobo said its not clear yet how Slc6a15 works in the brain, but she believes it may be transporting three types of amino acids into a subset of neurons called D2 neurons in a part of the brain called the nucleus accumbens. The nucleus accumbens and D2 neurons are known to play a role in pleasure, activating when one eats a delicious meal, has sex or drinks alcohol.

The amino acids would then be synthesized into neurotransmitters. Depression previously has been linked to imbalances of the neurotransmitters serotonin, norepinephrine and dopamine.

So even though people may have proper levels of amino acids in their bodies, the neurons in their brains that need them may not be getting enough if the transporter is not working as it should.

This gene is critical for putting very specific amino acids in the right place so that neurotransmitters can be synthesized, said A.J. Robison, an assistant professor in the Department of Physiology at Michigan State University. Its the location, location, location idea. Its not the amino acids, its where theyre at and in which cells.

Robison said Lobos next step would be discovering more about how the transporter gene works.

The fact that this transporter seems to be important is what the paper shows and how it does it is not shown, and thats a challenge for her, he said. Figuring out the how of it is the next step and Dr. Lobo is particularly positioned to do it.

Lobos team was able to use gene therapy, a form of therapy in the early stages of being studied in humans, in the mice to boost the genes activity. The mice were exposed to larger, more aggressive mice, which usually causes depressive symptoms. But the gene therapy helped protect the mice against the stress, the team found. When the team reduced the genes activity in the mice, just one day of exposure to the aggressive mice was enough to cause symptoms of depression.

Gene therapy is starting to be used in the treatment of some types of cancers, but Lobo said science had not yet advanced to the point where it can be used for treating neurological issues in human patients. A more likely treatment would be a drug that targets the genes activity directly, she said.

I think this is a major step toward our understanding of the precise maladaptive changes that occur in response to stress, said Vanna Zachariou, an associate professor in the Department of Neuroscience at the Icahn School of Medicine at Mount Sinai. It can be a more efficient way to target depression because its not simply targeting monoamine receptors or dopamine but targeting molecular adaptations that occur. It doesnt act necessarily as the drugs we have available, so it might create an alternative avenue to treat depression.

Lobo said she wouldnt refer to Slc6a15 as a depression gene, saying the disease was complex and could have many factors.

I wouldnt say theres one depression gene she said. A number of things play a role, and also theres no depression neuron, theres multiple depression neurons.

There also may be different types of depression with different symptoms, she said. With the disease, some sufferers sleep a lot, while others sleep a lot less, for example.

With all these complex diseases, its hard to link it to something, she said. Like Huntingtons disease, we know theres a specific gene that causes Huntingtons disease. For depression we dont have that.

See more here:
Maryland scientists research gene linked to depression | The ... - The Spokesman-Review

Recommendation and review posted by simmons

The idea of treating Duchenne muscular dystrophy by replacing defective dystrophin genes with normal ones is not new, but previous approaches have been limited by the gene's size. A University of Missouri-led team has developed a new gene transfer method to solve this problem.

Duchenne is caused by mutations in the dystrophin gene, which codes for a protein of the same name. Without the stabilizing dystrophin protein, muscle fibers, including those in the heart, eventually weaken and die.

Gene therapy seeks to treat DMD by restoring dystrophin production. Adeno-associated viruses (AAV) are usedto deliver the gene, as they do not cause disease in humans. But because the dystrophin gene is too large for the virus to carry, researchers had to developmodified versions of the gene, dubbed mini- or microdystrophin, for gene therapy.

Problem is, editing the gene can leave out a binding site for the enzyme nNos, which is important for blood flow during muscle contraction, the researchers said. So the team, which also includes scientists from the University of Washington, developed a new AAV microdystrophin vector that has an nNos binding site and a component that promotes dystrophin expression in muscle cells.

RELATED: Shortened telomeres linked to heart damage in Duchenne muscular dystrophy

They injected the vector into mouse models that resemble DMD.Fifteen weeks later, they foundall 10 of the treated mice had high levels of the microdystrophin protein in all of their skeletal muscles. The treatment reduced inflammation, scarring and hardening in the mices muscles and restored their muscle strength.

The research, published in Molecular TherapyMethods & Clinical Development, is encouraging, but a new treatment is a few years off.

"There is still a lot to learn about the dystrophin gene, the dystrophin protein, Duchenne muscular dystrophy disease mechanisms, and gene transfer vectors," said senior author Dongsheng Duan, of the University of Missouri, in a press release. "Future studies will hopefully allow us to develop a more effective therapy to treat Duchenne muscular dystrophy in the coming years."

Most of the recent attention in DMD has gone to Sarepta, which gotits controversial Duchenne drug past the FDAafter much debate. Now the company is chasing other treatments for the disease. In January, Sarepta penned a microdystrophin research deal with Nationwide Childrens Hospital and in June, it inked a deal that gave it the option to co-develop France-based Genethons microdystrophin program.

Sareptas drug, Exondys 51, only works in patients with a particular mutation, about 13% of the total DMD patient population. Its new research partnerships could yield gene therapies that would treat many morepatients.

Continued here:
U. of Missouri-led scientists improve gene transfer in Duchenne therapy - FierceBiotech

Recommendation and review posted by sam

Although medications exist to treat depression, many scientists arent sure why theyre effective and why they dont work for everyone.

Researchers at the University of Maryland School of Medicine believe they may have found a key to the puzzle of major depression that could lead to therapies for those who dont respond to medications already on the market.

A new study by the researchers has identified the central role a gene known as Slc6a15 plays in either protecting from stress or contributing to depression, depending on its level of activity in a part of the brain associated with motivation, pleasure and reward seeking.

Published in the Journal of Neuroscience in July, the study is the first to illuminate in detail how the gene works in a kind of neuron that plays a key role in depression, according to the University of Maryland School of Medicine.

Specifically, the researchers found that mice with depression had reduced levels of the genes activity, while those with high levels of the genes activity handled chronic stress better.

Though senior researcher Mary Kay Lobos primary studies were done with mice, she also examined the brains of people who had committed suicide and found reduced levels of the genes activity, confirming a likely link.

She hopes now that drugs could be developed that would encourage the genes activity.

I thought it was fascinating we had this system in place that allows us to go after things or be motivated or have pleasure and I was interested in how it becomes dysfunctional in certain diseases like depression, Lobo said. I hope that we can identify molecules that could potentially be therapeutically treated or targeted to treat depression.

Lobo and her colleagues have been examining the gene for years. In 2006, they discovered that it was more common among specific neurons in the brain that they later learned were related to depression. Five years later, other researchers learned the gene played a role in depression and Lobo and her research colleagues decided to investigate what that role is in those specific neurons.

About 15 million adults, or 6.7 percent of all U.S. adults, experience major depression in a given year, according to the Anxiety and Depression Association of America. It is the leading cause of disability for Americans aged 15 to 44. It is more prevalent in women and can develop at any age, but the median age of onset is 32.5.

David Dietz, an associate professor in the Department of Pharmacology and Toxicology at the State University of New York at Buffalo, said little was known previously about the biological basis of depression in the brain. Many drugs used to treat depression were discovered serendipitously, he said, and it wasnt clear why they worked.

Were starting to really get an idea of what does the depressed brain look like, Dietz said. When you put the whole puzzle together, you see where the problem is. For too long weve been throwing things at individual pieces. Its so complex and we have so little information that it was almost bound to be that way. For the first time this is one of those bigger pieces you can slide into the jigsaw puzzle.

Lobo said its not clear yet how Slc6a15 works in the brain, but she believes it may be transporting three types of amino acids into a subset of neurons called D2 neurons in a part of the brain called the nucleus accumbens. The nucleus accumbens and D2 neurons are known to play a role in pleasure, activating when one eats a delicious meal, has sex or drinks alcohol.

The amino acids would then be synthesized into neurotransmitters. Depression previously has been linked to imbalances of the neurotransmitters serotonin, norepinephrine and dopamine.

So even though people may have proper levels of amino acids in their bodies, the neurons in their brains that need them may not be getting enough if the transporter is not working as it should.

This gene is critical for putting very specific amino acids in the right place so that neurotransmitters can be synthesized, said A.J. Robison, an assistant professor in the Department of Physiology at Michigan State University. Its the location, location, location idea. Its not the amino acids, its where theyre at and in which cells.

Robison said Lobos next step would be discovering more about how the transporter gene works.

The fact that this transporter seems to be important is what the paper shows and how it does it is not shown, and thats a challenge for her, he said. Figuring out the how of it is the next step and Dr. Lobo is particularly positioned to do it.

Lobos team was able to use gene therapy, a form of therapy in the early stages of being studied in humans, in the mice to boost the genes activity. The mice were exposed to larger, more aggressive mice, which usually causes depressive symptoms. But the gene therapy helped protect the mice against the stress, the team found. When the team reduced the genes activity in the mice, just one day of exposure to the aggressive mice was enough to cause symptoms of depression.

Gene therapy is starting to be used in the treatment of some types of cancers, but Lobo said science had not yet advanced to the point where it can be used for treating neurological issues in human patients. A more likely treatment would be a drug that targets the genes activity directly, she said.

I think this is a major step toward our understanding of the precise maladaptive changes that occur in response to stress, said Vanna Zachariou, an associate professor in the Department of Neuroscience at the Icahn School of Medicine at Mount Sinai. It can be a more efficient way to target depression because its not simply targeting monoamine receptors or dopamine but targeting molecular adaptations that occur. It doesnt act necessarily as the drugs we have available, so it might create an alternative avenue to treat depression.

Lobo said she wouldnt refer to Slc6a15 as a depression gene, saying the disease was complex and could have many factors.

I wouldnt say theres one depression gene she said. A number of things play a role, and also theres no depression neuron, theres multiple depression neurons.

There also may be different types of depression with different symptoms, she said. With the disease, some sufferers sleep a lot, while others sleep a lot less, for example.

With all these complex diseases, its hard to link it to something, she said. Like Huntingtons disease, we know theres a specific gene that causes Huntingtons disease. For depression we dont have that.

cwells@baltsun.com

See the rest here:
University of Maryland scientists research gene linked to depression - Baltimore Sun

Recommendation and review posted by sam

Global Cancer Gene Therapy Market Research Report 2017 to 2022presents an in-depth assessment of the Cancer Gene Therapy including enabling technologies, key trends, market drivers, challenges, standardization, regulatory landscape, deployment models, operator case studies, opportunities, future roadmap, value chain, ecosystem player profiles and strategies. The report also presents forecasts for Cancer Gene Therapy investments from 2017 till 2022.

This study answers several questions for stakeholders, primarily which market segments they should focus upon during the next five years to prioritize their efforts and investments. The Cancer Gene Therapy markets are highly fragmented due to the presence of numerous small and large vendors. Most of the international pharmaceutical companies are facing challenges such as price pressure, regulatory constraints, and competition from local and other international pharmaceutical companies in the Cancer Gene Therapy markets. The competitive environment in the market is expected to intensify with an increase in product extensions, technological innovations, and increase in mergers and acquisitions.

These stakeholders include Cancer Gene Therapy manufacturers such as : Cell Genesys, Advantagene, GenVec, BioCancell, Celgene and Epeius Biotechnologies, Introgen Therapeutics, ZIOPHARM Oncology, MultiVir, Shenzhen SiBiono GeneTech.

Inquire for sample of report @:

https://www.marketinsightsreports.com/reports/07318362/global-cancer-gene-therapy-market-professional-survey-report-2017/inquiry

Primary sources are mainly industry experts from core and related industries, and suppliers, manufacturers, distributors, service providers, and organizations related to all segments of the industrys supply chain. The bottom-up approach was used to estimate the global market size of Cancer Gene Therapy based on end-use industry and region, in terms of value. With the data triangulation procedure and validation of data through primary interviews, the exact values of the overall parent market, and individual market sizes were determined and confirmed in this study.

Secondly the study, besides estimating the Cancer Gene Therapy market potential till 2022, analyzes on who can be the market leaders and what partnerships would help them to capture the market share. The report gives an overview about the dynamics of the market, by discussing various aspects such as drivers, restraints, Porters 5 forces, value chain, customer acceptance and investment scenario.

TheGlobal Cancer Gene Therapy marketconsists of different international, regional, and local vendors. The market competition is foreseen to grow higher with the rise in technological innovation and M&A activities in the future. Moreover, many local and regional vendors are offering specific application products for varied end-users. The new vendor entrants in the market are finding it hard to compete with the international vendors based on quality, reliability, and innovations in technology.

The research report presents a comprehensive assessment of the market and contains thoughtful insights, facts, historical data, and statistically supported and industry-validated market data. It also contains projections using a suitable set of assumptions and methodologies. The research report provides analysis and information according to categories such as market segments, geographies, types, technology and applications.

Global Cancer Gene Therapy Sales (K Units) and Revenue (Million USD) Market Split by Product Type:

Global Cancer Gene Therapy Sales (K Units) by Application (2016-2022)

by Application

(2016-2022)

The research provides answers to the following key questions:

This independent 109 page report guarantees you will remain better informed than your competition. With over 150 tables and figures examining the Cancer Gene Therapy market, the report gives you a visual, one-stop breakdown of the leading products, submarkets and market leaders market revenue forecasts as well as analysis to 2022.

Browse Full Report @:

https://www.marketinsightsreports.com/reports/07318362/global-cancer-gene-therapy-market-professional-survey-report-2017

Geographically, this report is segmented into several key Regions, with production, consumption, revenue (million USD), and market share and growth rate of Storage Area Network Switch in these regions, from 2012 to 2022 (forecast), covering

by Regions

The report provides a basic overview of the Cancer Gene Therapy industry including definitions, classifications, applications and industry chain structure. And development policies and plans are discussed as well as manufacturing processes and cost structures.

Then, the report focuses on global major leading industry players with information such as company profiles, product picture and specifications, sales, market share and contact information. Whats more, the Cancer Gene Therapy industry development trends and marketing channels are analyzed.

The report segments this market based on products, portability, methods, applications, and end users. Among various end users, the hospitals segment is expected to account for the largest share of the market and is expected to grow at the highest CAGR from 2014 to 2019. The high growth in this segment can be attributed to the rising rate of maternal mortality and fetal birth defects, and increasing number of initiatives taken by government organizations for improving prenatal care.

The research includes historic data from 2012 to 2016 and forecasts until 2022 which makes the reports an invaluable resource for industry executives, marketing, sales and product managers, consultants, analysts, and other people looking for key industry data in readily accessible documents with clearly presented tables and graphs. The report will make detailed analysis mainly on above questions and in-depth research on the development environment, market size, development trend, operation situation and future development trend of Cancer Gene Therapy on the basis of stating current situation of the industry in 2017 so as to make comprehensive organization and judgment on the competition situation and development trend of Cancer Gene Therapy Market and assist manufacturers and investment organization to better grasp the development course of Cancer Gene Therapy Market.

The study was conducted using an objective combination of primary and secondary information including inputs from key participants in the industry. The report contains a comprehensive market and vendor landscape in addition to a SWOT analysis of the key vendors.

The report is a compilation of first-hand information, qualitative and quantitative assessment by industry analysts, inputs from industry experts and industry participants across the value chain. The report provides in-depth analysis of parent market trends, macro-economic indicators and governing factors along with market attractiveness as per segments. The report also maps the qualitative impact of various market factors on market segments and geographies.

There are 15 Chapters to deeply display the global Cancer Gene Therapy market.

Chapter 1, to describe Cancer Gene Therapy Introduction, product scope, market overview, market opportunities, market risk, market driving force;

Chapter 2, to analyze the top manufacturers of Grain and Seed Cleaning Equipment, with sales, revenue, and price of Grain and Seed Cleaning Equipment, in 2016 and 2017;

Chapter 3, to display the competitive situation among the top manufacturers, with sales, revenue and market share in 2016 and 2017;

Chapter 4, to show the global market by regions, with sales, revenue and market share of Grain and Seed Cleaning Equipment, for each region, from 2012 to 2017;

Chapter 5, 6, 7,8and 9, to analyze the key regions, with sales, revenue and market share by key countries in these regions;

Chapter 10and 11, to show the market by type and application, with sales market share and growth rate by type, application, from 2012 to 2017;

Chapter 12, Cancer Gene Therapy market forecast, by regions, type and application, with sales and revenue, from 2017 to 2022;

Chapter 13, 14 and 15, to describe Cancer Gene Therapy sales channel, distributors, traders, dealers, Research Findings and Conclusion, appendix and data source.

Link:
Cancer Gene Therapy Market Analysis And Review By Experts 2017 - Equity Insider (press release)

Recommendation and review posted by Bethany Smith

LONDON (Reuters) - GlaxoSmithKline is swimming against the tide by getting out of treatments for rare diseases at a time when rivals like Sanofi and Shire see the field as a rich seam for profits.

Successful medicines for rare conditions are potentially very lucrative, since prices frequently run into hundreds of thousands of dollars, but patient numbers can be extremely low.

New GSK Chief Executive Emma Walmsley announced the strategic review and potential divestment of rare diseases on Wednesday as part of a wide-ranging drive to streamline pharmaceutical operations.

It follows a less than impressive experience for GSK in the field, including the fact that its pioneering gene therapy Strimvelis only secured its first commercial patient in March, 10 months after it was approved for sale in Europe in May 2016.

Since then a second patient has also been treated and two more are lined up to receive the therapy commercially, a spokesman said.

Strimvelis, which GSK developed with Italian scientists, is designed for a tiny number of children with ADA Severe Combined Immune Deficiency (ADA-SCID). SCID is sometimes known as "bubble baby" disease, since those born with it have immune systems so weak they must live in germ-free environments.

The new treatment became the first life-saving gene therapy for children when it was approved last year, marking a step forward for the emerging technology to fix faulty genes.

Walmsley said GSK was not giving up on gene and cell therapy entirely. Research will be focused in future in areas with larger potential patient numbers, including oncology.

Reporting by Ben Hirschler; Editing by Adrian Croft

Original post:
GSK gives up on rare diseases as gene therapy gets two customers - Reuters

Recommendation and review posted by sam

Willow Cannan

OCEAN SPRINGS, Miss. Imagine that you are the parent of an adorable, healthy, curious and loving baby girl.

As she grows, you realize she is not meeting her developmental milestones, but your doctor assures you that she will catch up to the rest of the children eventually. She doesnt speak, is slow to walk and while this in itself is not alarming, your pediatrician refers you to a neurologist.

You wait weeks for the results and the doctor confirms your deepest fears with a devastating diagnosis your baby girl has a rare and fatal genetic condition for which there is no known medication or cure.

In May 2016, Tom Cannan and Amber Olsens daughter Willow was diagnosed with Multiple Sulfatase Deficiency (MSD), a rare type of lysosomal storage disorder. She was born with a mutation of the SUMF1 gene, which means that her body does not create sulfatase enzymes.

This prevents her body from breaking down and recycling natural cellular waste. It is a fatal condition that affects the entire body.

Over the next few years, Willows body will slowly break down, she will lose her vision, and her brain will eventually shut downlikely all before she reaches her tenth birthday.

At just three years old, Willow now walks with a walker, has trouble sitting or eating on her own, and has never spoken.

The doctors told us to go home and spend time with our daughter that there was nothing we could do besides be with her and make her comfortable. We found research online that a treatment was close but lacked funding. We realized we had to develop a plan and put it in action, so we created the United MSD Foundation to raise money for a cure. Our campaign is called Warriors for Willow. We will fund the work needed to develop a clinical trial, we just hope it is in time for Willow, says Willows mother Amber.

While less than 50 children worldwide have been diagnosed with Willows specific condition, lysosomal storage disorders are believed to have an estimated frequency of one in every 5,000 live births. A cure for MSD could potentially result in the cure for multiple conditions, saving thousands of children.

Theres been a resurgence of new types of treatments for these rare inherited disorders like MSD, says Director of UNC Gene Therapy Center, Dr. Steven Gray. Gene therapy has been at the forefront of this resurgence and has proven to have outstanding results in many cases. Because we know whats wrong and what genes are missing, I have high hopes that a cure can be identified. However, it all comes down to funding.

The United MSD Foundations goal is to raise $210,000 by October 1, 2017, to fund the next stage of research. As a rare condition, Multiple Sulfatase Deficiency has not attracted research funding from pharmaceutical companies, which leaves families like Willows to fight for a cure on their own. The United MSD Foundation aims to ensure that this devastating condition receives the research attention it requires and deserves.

In the beginning, we hoped that finding a cure for MSD would save our daughter, says Willows father Tom. We just wanted her to live. But now we are fighting for all of the families worldwide whose lives have been devastated by this condition. We have to give them hope.

To see a video of Willows story or to donate to the United MSD Foundation, click here.All donations will help fund research and clinical testing to identify a cure for MSD.

The rest is here:
Ocean Springs parents fight to save 3-year-old daughter from fatal genetic condition - WGNO

Recommendation and review posted by simmons

Great Ormond Streets position was outlined in court documents:

At the first hearing in Charlies case in March, GOSHs position was that every daythat passed was a day that was not in his best interests. That remains its view of his welfare. Even now, Charlie shows physical responses to stressors that some of those treating him interpret as pain and when two international experts assessed him last week, they believed that they elicited a pain response. In GOSHs view there has been no real change in Charlies responsiveness since January. Its fear that his continued existence has been painful to him has been compounded by the Judges finding, inApril, that since his brain became affected by RRM2B, Charlies has been an existence devoid of all benefit and pleasure. If Charlie has had a relationship with the world around him since his best interests were determined, it has been one of suffering.

Throughout, his parents hopes have been sustained by advice received from overseas. Mitochondrial disorders comprise a specialised and small international field. The experts in that field meet, collaborate and exchange ideas on a very regular basis and it is that valued collaboration that allows progress to be made and patients to be provided with the best possible care. Professor Hirano (the Professor), whose laboratory research has an international reputation, is very well known to the experts at GOSH and he communicated with them about NBT treatment for Charlie at the very end of December. In January, GOSH invited the Professor to come and see Charlie. That invitation remained open at all times but was not taken up until 18 July after being extended, once again, this time by the Court.

In the months between January and July, the Professor provided written and oral evidence for the best interests hearing in April and, after the Court decided that NBT was not in Charlies best interests, he went on to provide further written evidence for the Court of Appeal and the Supreme Court. Most recently, on 6 July, he co-signed the letter indicating that he had new information that changed the picture for Charlie, that brought this case back before the High Court.

When the hospital was informed that the Professor had new laboratory findings causing him to believe NBT would be more beneficial to Charlie than he had previously opined,GOSHs hope for Charlie and his parents was that that optimism would be confirmed. It was, therefore, with increasing surprise and disappointment that the hospital listened to the Professors fresh evidence to the Court. On 13 July he stated that not only had he not visited the hospital to examine Charlie but in addition, he had not read Charlies contemporaneous medical records or viewed Charlies brain imaging or read all of the second opinions about Charlies condition (obtained from experts all of whom had taken the opportunity to examine him and consider his records) or even read the Judges decision made on 11 April. Further, GOSH was concerned to hear the Professor state, for the first time, whilst in the witness box, that he retains a financial interest in some of the NBT compounds he proposed prescribing for Charlie. Devastatingly, the information obtained since 13 July gives no cause for optimism. Rather, it confirms that whilst NBT may well assist others in the future, it cannot and could not have assisted Charlie.

In the months ahead, all at GOSH will be giving careful thought to what they can learnfrom this bruising court case that might enrich the care it provides to its most vulnerable patients and families. It is hoped that those who, like the Professor, have provided the opinions that have so sustained Charlies parents, their hopes and thus this protracted litigation with its many consequences, will also find much upon which to reflect.

GOSH is a tertiary referral centre and a centre of research excellence. It celebrates and enthuses about gene therapy and experimental treatment of all types. But it also believes in its patients as people. The hospital strives to work with children and parents to strike a balance of treatment benefits and burdens that combines evidence and compassion.

Where that balance falls ethically in favour of pioneering treatment, GOSH shares each familys excitement at the journey that follows. GOSH believes that novel therapies are best provided in the context of formal clinical trials. The hospital does not treat its most vulnerable children simply because it can and on no account does it treat them purely because novel treatment furthers GOSHs research.

All of GOSHs thoughts go with Charlie and his mother and father the hospital wishes each of them peace in their hearts at the end of this day and each day to come.

Continue reading here:
US doctor who wanted to treat Charlie Gard had 'financial interest' says Great Ormond Street - Metro

Recommendation and review posted by simmons

So it was that Eos, goddess of the dawn, fell in love with Tithonus, a handsome young prince of Troy and, beguiling him with her beauty, brought him to her palace on Mount Olympus.

They lived happily for many years but, being mortal, age eventually overtook Tithonus. In her despair, Eos beseeched Zeus to grant her love immortality. Moved to pity, he granted her request but even the king of Olympus could not bestow eternal youth on a human for that would make him as one of the gods.

As one age passed into the next, Tithonus, withered and shrunken, cried incessantly for release from his torment but Zeus could not undo a wish once granted. It was Eos who eventually provided her poor lover a measure of relief by transforming him into a cicada. Now each summer he emerges from the ground with a fresh body to sing in eternal praise of his beauteous goddess. Or is it rather a lament over his crusted, hollow shell of a body?

Many of the myths and stories we have long told ourselves are cautionary tales against the dangers of hubris, our overconfident pride and arrogance before the gods. Divinity will mete out retribution to those who forget their place in the natural scheme of things. Chief among these absolutes of the human condition is our mortality; we all must die and woe betide any who would seek to have it otherwise.

But consider this statement from the website of the California Life Co. (Calico), a biotechnology firm established in 2013:

Calico is a research and development company whose mission is to harness advanced technologies to increase our understanding of the biology that controls lifespan. We will use that knowledge to devise interventions that enable people to lead longer and healthier lives. Executing on this mission will require an unprecedented level of interdisciplinary effort and a long-term focus for which funding is already in place.

The company is a subsidiary of Alphabet Inc., whose most famous other subsidiary goes by the name of Google. By 2016, Larry Page, Alphabets CEO (and co-founder of Google) had committed the company to contributing $240 million to Calico, with an additional $490 million should it be needed.

Calico is by no means the only Silicon Valley outfit investing big dollars in the life extension sciences field. SENS (Strategies for Engineered Negligible Senescence) Research Foundation, founded in 2009, and Human Longevity Inc., founded in 2014, are two of its better-funded competitors but there are others.

Whats going on here? Lets start with some data. Since 1900, the average human life span has increased by 30 years. But with this, so have the rates of age-related health issues such as cancer, heart disease, stroke, diabetes and dementia. In the U.S., up to age 44 the leading causes of death are accidents and violence. From there to age 65, its cancer and heart disease after that.

Medical advances are making significant inroads on each of these diseases and they may be conquered within your childrens lifetime. What then? Well, epidemiologists suggest a cure for cancer would only add 3.3 years to the average lifespan while the prevention of heart disease would tack on another four years. The elimination of all disease likely would only extend life into the mid-90s.

To go further, the aging process itself must be slowed. Even in the absence of disease, our bodies senesce as our organs, tissues, cells and macromolecules accumulate damage at an ever-increasing rate. Eric Verdin of the Buck Institute for Research on Aging has observed that if you just kept aging at the rate you age between 20-30, youd live to a thousand. But at 30, everything starts to change. Thereafter your risk of mortality doubles every seven years.

Most longevity scientists are health spanners, seeking a healthier life with a compressed morbidity (i.e., a quick and painless death). But immortalists like SENS Research founder Aubrey de Grey and futurist Ray Kurzwell believe science can carry us much further. If aging is encoded in the DNA of our genes, they argue, there should be no technological reason why we couldnt identify and address those parts of our genomes that are responsible for senescence.

Like so much else in modern biology, medical research is increasingly becoming an information science. To find the genetic correlates of aging will entail the compilation and analysis of an almost unthinkable mass of biotechnical data. Who has the big-data skillset and financial resources to back such an undertaking?

Silicon Valley.

But what about the economics, ethics and religious implications of an immortality united with youthful vigor? Should aging be viewed as a medical disease to be treated as any other or are we just asking for it with such hubristic thinking?

Ken Baker is a scientist and a retired biology professor. If you have a natural history topic youd like the author to consider for an upcoming column, email your idea to rweaver@advertiser-tribune.com.

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Recommendation and review posted by Bethany Smith

It is estimated that genetics are a contributing factor in up to 10 percent of couples who experience infertility or recurrent pregnancy loss, so it stands to reason that genetic testing has the potential to help many of those couples in their quest to have a family.

Genetic testing examines DNA, which has been called the chemical database that carries instructions for the bodys functions and can reveal gene changes that may cause illness or disease, including infertility. Since both men and women can have fertility issues, they can all benefit from genetic testing.

Identifying a genetic cause for your infertility can help you make the right decision on how to proceed by choosing the treatments that are most likely to help.

Additionally, genetic testing is advised before you have children if you or your partner has a family history of a genetic disorder, such as sickle cell anemia, Tay-Sachs disease or cystic fibrosis. Such testing can reveal if either or both of you carry a copy of an altered gene that would put a child at risk of developing the disorder.

A Board-Certified Reproductive Endocrinologist would make suggestions as to what blood tests should be ordered, which in most cases will follow the American College of Obstetrics and Gynecology (ACOG)'s recommendations.

If youre interested in learning more about genetic testing, contact us.

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Genetic Testing: Finding the cause of your infertility ...

Recommendation and review posted by Bethany Smith

Paula Ward scrolls through the website for 23andMe which was recently approved for direct-to-consumer genetic tests for health risks. KOMO photo

One of the top sellers on Amazon Prime Day this year has nothing to do with electronics. It's a $200 test for personal ancestry and genetic health risks.

The health risk part of that test has a lot of people asking : How much do you really want to know?

As a two year breast cancer survivor, Paula Ward knows she has some degree of cancer risk. But she wonders what other possible health risks might lurk in her DNA.

"My grandmother did have Parkinson's," Ward said. "Alzheimer's is also a concern because I did have a great aunt that had that, on my mother's side."

Ward likes the idea of going online to order a genetic test to learn more.

23andMe is the first genetic testing lab to get FDA approval for marketing health risk tests directly to consumers. Customers receive a kit in the mail that includes a sterile tube to collect and send back a sample of your saliva.

The results do not tell whether or not you'll get a particular disease, only if you're genetically predisposed.

23andMe is approved to test for 10 diseases but right now only tests for four: Late-onset Alzheimer's Disease, Parkinson's Disease, Hereditary Thrombophilia, linked to an increase tendedancy for blood clots, and Alpha 1 Antitrypsin Deficiency, an inherited condition linked to lung and liver disease.

"But it's really important to know that it's not diagnosing disease or health condition," explained 23andMe Medical Associate Stacey Detweiler.

On it's website, 23andMe emphasizes that its health risks reports are not for diagnosis. They only tell whether you carry certain markers associated with risks for certain health conditions.

The company says other genetic factors not covered by its tests can also pay a role in your overall health risks. So can different factors specific to your own environment and lifestyle.

"It's not giving that diagnosis," Detwiler said. "But it's kind of like another tool that you can use working with your physician, for working towards just overall general good health."

But Geneticist Dr. Gail Jarvik,head of the the Medical Genetics division at the University of Washington, urges caution.

"We have had a number of people contact us after 23andme started testing again for risk of disease," Jarvik said. "And one particular patient has a 40% risk of Alzheimers disease and is extremely concerned and would like to know what can be done. And there's very little you can do to modify your risk of Alzheimers disease using that information, that the rest of us shouldn't be doing anyway. Better diet, and better exercise, most of us would benefit from."

Critcs fear some people are not emotionally prepared for the potential results of the test, especially when many genetic diseases have no remedy.

"We don't have really good, specific ways of modifying risks of Alzheimers and Parkinsons, which are part of this test," Jarvik said. "And people should think about that before they order the test, do I want to know ths information? Will it improve my quality of life? Or just make me very worried?"

"We do highlight that this is information that once you learn it, you can't unlearn it,so to really be confident that this is information that you do want to know," Detweiler said.

"It's just a tool," said Leanne Spaulding, who plans to discuss taking the test with her family. Spaulding knows her family has a history of dementia and diabetes.

"If there's anything else that runs in my family that I don't know about, I'd just as soon know, and be able to do something about it, and be able to make plans around it," Spaulding said

Paula Ward agrees that having her potential health risk information might be an added tool for long-term planning, lifestyle changes or discussing your health with your family. Ward's advice: Before you decide on a genetic health test, do your homework, and be very honest with yourself.

"You know how you are," Ward said. "If you stress over little things, then maybe that's something you don't need to know."

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Mail order genetic tests for health risks. How much do you want to ... - KOMO News

Recommendation and review posted by sam

USA TODAY High School Sports has a weekly column on the college recruiting process. Here, youll find practical tips and real-world advice on becoming a better recruit to maximize your opportunities to play at the college level. Joe is a former college-athlete and coach at the NAIA level, where he earned an NAIA National Championship. Joe is just one of many former college and professional players, college coaches, and parents who are part of the Next College Student Athleteteam. Their knowledge, experience, and dedication along with NCSAs history of digital innovation, and long-standing relationship with the college coaching community have made NCSA the largest and most successful athletic recruiting network in the country.

Imagine if there was a scientific way to discover whether or not your child is destined to be an elite athlete. Sounds like pure science fiction, right? Some companies, however, believe that they have the secret. The answers are in your genes.

Genetic testing is one of the newer trends to sweep through the sports and fitness world. Companies claim that, with a simple genetic test, they can tell who has what it takes to be an elite soccer player, football player, sprinter, endurance athlete and more. They can also determine athletes who are more prone to certain injuries. And the tests can help trainers understand the type of workout plan an athletes body will respond to best.

You might be wondering if these genetic tests are too good to be true (so were we), and if you need to take them to stay competitive in your college athletic recruiting. We looked at the data to better understand the how, when, where and why behind genetic testing for athletes.

Scientists have studied the genetic code of some elite and pro athletes, finding a few similar genes among these top competitors. To gauge aspiring athletes potential, companies look into their genetic codeusing a saliva sampleto see if they also contain those performance-enhancing genes that are present in the code of elite athletes.

Some companies primarily look for one particular gene: ACTN3. This gene is associated with the presence of a specific protein that helps muscles powerfully contract at high speeds. They claim that, depending on the variation of a persons ACTN3 gene, an individual is more genetically inclined to excel in either power or endurance sports. In fact, Atlas Sports Genetics president, Kevin Reilly, told Scientific Americanthat the genetic tests are more useful than physical tests to determine a childs athletic abilities before they turn 9.

Similarly, Soccer Genomicsexplains that with just one saliva sample, it can tell you if you have the genetic makeup required to excel in soccer. The Soccer Genomics website claims that their proprietary method checks an athletes speed, flexibility mobility, endurance, risk of injury, strength and nutrition. Soccer Genomics also provides athletes with a full report so they can understand their genetic strengthsand weaknesses.

Baylor Universitys football teamhas joined the genetic testing bandwagon, using the technology to build personalized training programs for each athlete. To do so, Baylor University hired Athletigen, which claims it uses cutting edge sports science to help athletes reach their highest levels of performance.

Were all trying to climb a mountain, and theres an infinite number of ways we can do so, Dr. Jeremy Koenig, the CEO of Athletigen, told USA Today. In knowing that information, you can optimize an athletes training plan or nutrition plan, based on their needs and also based on their goals.

While all of this is amazing technology, scientists around the world are stepping up to say, Not so fast! Experts claim that we simply dont know enough about the genetic code and how it affects athletic performance to be able to predict if an individual is predisposed to be an elite athlete.

Stephen Roth, an assistant professor of exercise physiology, aging, and genetics at the University of Maryland in College Park, pointed out in Scientific American that there are some 20,000 genes in the entire genome. So far, about 200 have been identified to have a positive association with fitness-related performance. However, we are only just scratching the surface on these 200, and there could be many more genes yet that play a critical role in athletic performance. He adds, Most research suggests that genetics contribute significantly to sports performance, buts very hard to put a number on it.

Furthermore, researchers explain that genetic testing companies tend to pick out data that better supports their claim and use studies that are simply too small to be relevant. Harvard geneticist Dr. Robert Green told Stat News, The notion that [athletic genetic testing companies] are somehow tailoring recommendations on the basis of your DNA is nonsense.

This new craze in fitness and sports will certainly continue to get refined over the years as we learn more about how genetics affect athletic ability. While the research isnt there yet to make genetic testing for athletes foolproof, there might still be some merit in sending in your saliva for testing. Maybe youre just interested in learning more about how your genetic code could affect your potential athletic performance. Perhaps a genetics-focused work out plan will benefit you in the long run.

As with all fitness and sports fads, however, its important to take it all with a grain of salt. Can you get genetically tested? Of course! Do you have to in order to get recruited? Definitely not.

Coaches dont need to see your genetic makeup to know if youre a good fit for their roster. They want to see your athletic ability, your potential, your work ethic and your character. Theres nothing wrong with using something like genetic testing to get an edge on the competition. But at the end of the day, you just need to be able to prove to coaches why youre a great fit for their team.

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Genetic testing: The new way to identify and train elite athletes? - USA TODAY High School Sports

Recommendation and review posted by simmons

Genetic counsellor Bruce Hopper, along with some members of the local genetics team, will Be at Taree City Centre on Jeans for Genes Day, Friday August 4.

Genetic counsellor Bruce Hopper and his team will be at Taree City Centre on Jeans for Genes said. It is also an opportunity for people to have a quick conversation with Bruce about the developments in genetics research.

Each year as Jeans for Genes Day places the focus on how our genes may impact our health, we marvel at the technological advances in genetic testing that occur year after year.

Bruce Hopper, genetic counsellor at Hunter New England Local Health District, said this year the very effective panel testing for multiple genes is now an extra option for clinicians helping families.

Panel testing allows us to now test multiple genes at once, at a much cheaper price than we could have even four months ago,Mr Hopper said.

The new technology has led us to be able to change from testing one gene at a time, to now being able to test multiple genes at once.

This has led to us in the clinical setting to assist individuals and families by testing for additional genes not logistically possible up until a few months ago,he said.

This technology has already been used for a number of patients with a family history of cancer as well as some families with cardiac conditions.

Jeans for Genes Day, an initiative of the Childrens Medical Research Institute, based at Westmead Hospital, undertakes research into attempting to establish why, children specifically, are born with certain genetic conditions.

Following identification of a genetic cause the focus is then on tailoring a specific treatment for that child.

Mr Hopper, along with some members of the local genetics team, will be at Taree City Centre on Jeans for Genes Day, Friday August 4,with merchandise and badges.

It is also an opportunity for people to have a quick conversation with Mr Hopper about the developments in genetics research.

To make an appointment to see a genetic counsellor and discuss genetic concerns, individuals first need to speak with their GP and discuss a referral to the genetic service both in Taree, Forster and the surrounds.

A number of shops in the Lower Mid-North Coast Region will be wearing jeans and selling badges as will the staff at Manning Hospital.

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Jeans for Genes Day stall at Taree City Centre - Gloucester Advocate

Recommendation and review posted by simmons

Five years ago, Alice Collins Plebuch made a decision that would alter her future or really, her past.

She sent away for a "just-for-fun DNA test." When the tube arrived, she spit and spit until she filled it up to the line, and then sent it off in the mail. She wanted to know what she was made of.

Plebuch, now 69, already had a rough idea of what she would find. Her parents, both deceased, were Irish-American Catholics who raised her and her six siblings with church Sundays and ethnic pride. But Plebuch, who had a long-standing interest in science and DNA, wanted to know more about her dad's side of the family. The son of Irish immigrants, Jim Collins had been raised in an orphanage from a young age, and his extended family tree was murky.

After a few weeks during which her saliva was analyzed, she got an email in the summer of 2012 with a link to her results. The report was confounding.

About half of Plebuch's DNA results presented the mixed British Isles bloodline she expected. The other half picked up an unexpected combination of European Jewish, Middle Eastern and Eastern European. Surely someone in the lab had messed up. It was the early days of direct-to-consumer DNA testing, and Ancestry.com's test was new. She wrote the company a nasty letter informing them they'd made a mistake.

But she talked to her sister, and they agreed she should test again. If the information Plebuch was seeing on her computer screen was correct, it posed a fundamental mystery about her very identity. It meant one of her parents wasn't who he or she was supposed to be and, by extension, neither was she.

Eventually, Plebuch would write to Ancestry again. You guys were right, she'd say. I was wrong.

We are only just beginning to grapple with what it means to cheaply and easily uncover our genetic heritage.

Over the past five years, as the price of DNA testing kits has dropped and their quality has improved, the phenomenon of "recreational genomics" has taken off. According to the International Society of Genetic Genealogy, nearly 8 million people worldwide, but mostly in the United States, have tested their DNA through kits, typically costing $99 or less, from such companies as 23andMe, Ancestry.com and Family Tree DNA.

The most popular DNA-deciphering approach, autosomal DNA testing, looks at genetic material inherited from both parents and can be used to connect customers to others in a database who share that material. The results can let you see exactly what stuff you're made from as well as offer the opportunity to find previously unknown relatives.

For adoptees, many of whom can't access information about their birthparents because of closed adoption laws, DNA testing can let them bypass years, even decades, of conventional research to find "DNA cousins" who may very well lead them to their families.

But DNA testing can also yield uncomfortable surprises. Some testers, looking for a little more information about a grandparent's origins, or to confirm a family legend about Native American heritage, may not be prepared for results that disrupt their sense of identity. Often, that means finding out their dad is not actually their dad, or discovering a relative that they never knew existed perhaps a baby conceived out of wedlock or given up for adoption.

In 2014, 23andMe estimated that 7,000 users of its service had discovered unexpected paternity or previously unknown siblings a relatively small fraction of overall users. The company no longer provides data on surprise results. However, its customer base has more than doubled since 2014, and now contains more than 2 million people and as more people get involved with recreational genomics, bloodline surprises are certain to become a more common experience. The 2020s may turn out to be the decade that killed family secrets, for better and for worse.

"We see it every day," says CeCe Moore, a genetic genealogist and consultant for the PBS series "Finding Your Roots." She runs a 54,000-person Facebook group, DNA Detectives, that helps people unravel their genetic ancestries. "You find out that a lot of things are not as they seem, and a lot of families are much more complex than you assume."

Alice Plebuch found herself in this place in the summer of 2012. To solve the mystery of her identity, she needed more help than any DNA testing company could offer. After all, genetic testing gives you the what, but not the why.

Plebuch would turn out to be uniquely suited to the role of private eye in her own detective story. Now living in the suburbs of Vancouver, Washington, she worked as an IT manager for the University of California before her retirement. "I did data processing most of my life, and at a fairly sophisticated level," she says. Computers do not intimidate her, and neither do big questions that require the organization and analysis of complex information. She likes to find patterns hidden in the chaos.

Just the skills necessary to solve a very old puzzle.

After the initial shock of her test results, Plebuch wondered if her mother might have had an affair. Or her grandmother, perhaps? So, she and her sister, Gerry Collins Wiggins, both ordered kits from DNA testing company 23andMe.

The affair scenario seemed unlikely certainly out of character for her mom, and besides, all seven Collins children had their father's hooded eyes. But she couldn't dismiss it. "My father, he was in the Army and he was all over the world, and it was just one of those fears that you have when you don't know," she says.

As they waited for their results, they wondered. If the Ancestry.com findings were right, it meant one of Plebuch's parents was at least partly Jewish. But which one?

They had a gut sense that it was unlikely to be their mother, who came from a large family, filled with cousins Plebuch and her siblings all knew well. Dad, who died in 1999, seemed the likelier candidate. Born in the Bronx, Jim Collins was a baby when his mother died. His longshoreman father, John Collins, was unable to care for his three children and sent them to live in orphanages. He died while Jim was still a child, and Jim had only limited contact with his extended family as an adult.

But still, the notion Jim could somehow be Jewish seemed far-fetched. His parents had come to the United States from Ireland, and that history was central to Jim's sense of himself. "He was raised in an orphanage; he didn't have anything else," Plebuch says. "He had his Irish identity."

She plunged into online genealogy forums, researching how other people had traced their DNA and educating herself about the science. She and her sister came up with a plan: They would persuade two of their first cousins to get tested their mother's nephew and their father's nephew. If one of those cousins was partly Jewish, they'd know for sure which side of the family was contributing the mysterious heritage.

The men agreed. The sisters sent their kits and waited.

Then Plebuch's own 23andMe results came back. They seemed consistent with her earlier Ancestry.com test, indicating lots of Ashkenazi Jewish ancestry from areas such as Belarus, Russia, Ukraine and Lithuania. She also discovered that her brother Bill had recently taken a 23andMe test. His results were a relief sort of.

"No hanky-panky," as Plebuch puts it. They were full siblings, sharing about 50 percent of the relevant DNA, including the same mysterious Jewish ancestry. This knocked out another theory they had considered that Plebuch might have been adopted.

Plebuch found a feature on 23andMe's website showing what segments along her chromosomes were associated with Ashkenazi Jews. Flipping back and forth, comparing her DNA to her brother's, she had a sudden insight.

There was a key difference between the images, lurking in the sex chromosomes. Along the X chromosome were blue segments indicating where she had Jewish ancestry, which could theoretically have come from either parent because females inherit one X from each. But males inherit only one X, from their mothers, along with a Y chromosome from their fathers, and when Plebuch looked at her brother's results, "darned if Bill's X chromosome wasn't lily white." Clearly, their mother had contributed no Jewish ancestry to her son.

"That was when I knew that my father was the one," Plebuch says.

The next day, her sister Gerry Wiggins's results came back: She, too, was a full sibling who also displayed significant Jewish ancestry. Then, Plebuch got an email from a retired professor known for his skill at interpreting ancestry tests, to whom she'd sent hers. "What you are is 50 percent Jewish," he wrote. "This is in fact as solid as DNA gets, which in this case is very solid indeed."

But how could their father have been Jewish? Could Jim Collins's parents have been secret Irish Jews? Or maybe Jews from Eastern Europe who passed themselves off as Irish when they came to the country as immigrants?

Now they really needed the data from the cousin on their father's side. If he also had Jewish ancestry, Plebuch figured, that could point to a family secret buried in Europe.

They waited for months, through a series of setbacks problems in the lab, problems with the mail. Meanwhile, the sisters emailed back and forth.

Plebuch asked her younger sister: Did this revelation about their father's ethnicity unnerve her? They'd been so certain of their family roots, and "now we know nothing," she wrote.

"It is the first thing I think about when I wake up in the morning," Wiggins replied, "and the last thing I think about as I drift off to sleep."

At last, Plebuch was alerted that her cousins' results were ready. The data from their mom's nephew revealed that he was a full first cousin, as expected sharing about 12.5 percent of his DNA with Plebuch.

But the results from her dad's nephew, Pete Nolan, whose mother was Jim Collins' sister, revealed him to be a total stranger, genetically speaking. No overlap whatsoever with Plebuch or, by extension, with her father.

In other words, Plebuch's cousin wasn't actually her cousin.

And her dad's sister wasn't actually his sister.

Plebuch was devastated. This finding knocked out the secret-Jews theory but if it put Plebuch closer to the truth, she still felt unmoored. She was deeply fond of Nolan, with whom she shared a birthday. "I was afraid he was going to reject me because we were no longer biological cousins."

She called Nolan to share the results of his DNA test. "He was sad," Plebuch says, "but he also told me I was the best cousin he ever had."

Plebuch and Wiggins came to the stunned conclusion that their dad was somehow not related to his own parents. John and Katie Collins were Irish Catholics, and their son was Jewish.

"I really lost all my identity," Plebuch says. "I felt adrift. I didn't know who I was you know, who I really was."

For Wiggins, the revelation confirmed a long, lingering sense that something was amiss with her father's story. Studying the family photographs on her wall, she'd thought for years that their paternal grandfather looked like no one in her immediate family. Visiting Ireland in 1990, she had searched the faces for any resemblance to her 5-foot-4, dark-haired father. "There was nobody that looked like my dad," Wiggins says.

The sisters set about methodically pursuing several theories. With Jim Collins and his parents long dead, Plebuch knew she needed to unravel his story through the living. She signed up to take a class in Seattle on how to use DNA to find her father's relatives.

If the woman Jim called his sister was not his sister, was there evidence of an actual sibling out there somewhere? Might that sibling have children? Might Plebuch and her siblings have first cousins they'd never known about?

---

The dystopian novelistMargaret Atwood is fond of saying that all new technologies have a good side, a bad side, and a "stupid side you hadn't considered." Doing DNA testing for fun can carry consequences few of us might anticipate. It requires little investment at the outset, but it has the potential to utterly change our lives.

After researching her family history, Laurie Pratt decided five years ago to enhance her genealogical knowledge by testing herself and her parents. This was how she discovered that her dad was not related to her.

Pratt, 52, an airline ground operations supervisor in Orange County, California, went to her mother, who at first said the results were "impossible." But over time, her mother divulged hazy memories of a short-lived relationship during a period when she and her husband were briefly separated.

Her mother couldn't recall a name before she died. The man who raised Pratt also died; she never told him he was not, biologically speaking, her father.

She searched over several years, eventually identifying a potential candidate within the family tree of previously unknown cousins she found through DNA matching. She sent this man a letter and days later, in February of this year, he suddenly popped up in the Ancestry.com database, identified by a saliva test as her biological father.

The man called her, and they spoke briefly on the phone. Though he was unmarried when Pratt was conceived, he fretted over the idea that he had abandoned a baby without knowing it. Pratt asked if they could meet, and the man agreed, but asked if he could take some time first to process the news and tell his wife and daughter.

Two days later, Pratt logged onto Ancestry.com and discovered that the man's test had been deleted.

Reactions to DNA testing surprises vary dramatically. Moore, the genetic genealogist, says that, in her experience, even those who are initially dismayed end up glad that "they learned about the truth of themselves."

But seekers may be a self-selecting bunch, and those who find the truth thrust upon them by someone else's quest are not always happy about it. Gaye Sherman Tannenbaum, an adoptee who spent decades searching for her birthparents and now helps others on their quests, says in some instances, people are "outright hostile" when they learn of a newly discovered relative.

The reaction is understandable: DNA surprises often imply extramarital affairs, out-of-wedlock births and decades-old secrets.

Researchers from theUniversity of Leuven in Belgium recently examined the English-language websites of 43 direct-to-consumer DNA testing companies and found that few companies warn consumers about the possibility of discovering "misattributed paternity."

23andMe is unusual in offering multiple warnings. ("Unexpected relationships may be identified that could affect you and your family.") "We are as transparent as possible," says Kate Black, the privacy officer for 23andMe, brought on in 2015after the company was criticized for failing to prepare consumers for such surprises. "We try to educate and inform people in every tool."

Still, consumers may skim those warnings, or refuse to believe such surprises might lurk within their own families. Jennifer Utley, the director of research at Ancestry.com, says that even though she had seen many cases of surprise relatives in her work, she still found herself in "complete shock" when she tested her own DNA and discovered a first cousin she hadn't known existed.

"I had no idea who this person was," says Utley, who has since learned that her cousin was the product of a teenage relationship, raised by an adoptive family. Of her family, she now concludes: "We're the best secret-keepers on the planet."

Pratt says she doesn't regret testing her DNA. She found herself both "devastated and curious" after the initial discovery about her genetic heritage. But, of course, that discovery was not hers alone, because her genes are not hers alone. Cases of unexpected paternity and secret adoptions implicate other people.

"I think this jars him," she says of her biological father. "He goes to bed the good guy he's always been very religious, very Catholic. And he wakes up, he's Mick Jagger. He has a baby. It blew his mind a little bit."

In late April, Pratt sent the man another letter. She had "no desire to push myself into your family," she wrote, nor make a financial claim. What she sought were stories about him and his family, to help her build a sense of where she came from. Just one meeting, a few hours, was all she asked.

She still hasn't heard back.

By early 2013, the Collins children were hot on the trail of a hundred-year-old mystery.

They had their father's birth certificate, indicating that he'd been born on Sept. 23, 1913. They wrote to his orphanage and learned that their dad had been sent there by the New York Society for the Prevention of Cruelty to Children.

Plebuch wondered if Jim Collins, just a baby at the time, had somehow been confused with another child when he was taken from his father's home.

She found a forensic artist said to be skilled in understanding how faces change over time. She sent her a picture of her dad sitting on his father's lap when he was about 11 months, along with photos of him as an adult. Were these of the same person?

Probably, the forensic artist ruled. The ears hadn't changed, and the mouth, chin and facial proportions seemed the same.

If the mystery of their father didn't begin with his parents' life in Ireland, nor with his own time in the orphanage, Plebuch and her sister concluded it must have happened shortly after Jim was born. Unusually for the era, his mother gave birth not at home but at Fordham Hospital in the Bronx.

Could something have happened there?

Wurts Bros./Museum of the City of New York

By this time, the sisters were using techniques developed by Moore and others to help adoptees try to find relatives in a vast universe of strangers' spit. Every time a site like 23andMe informed them of what Plebuch calls a "DNA cousin" on their Jewish side someone whose results suggested a likely cousin relationship they would ask to see that person's genome. If the person agreed, the site would reveal any places where their chromosomes overlapped.

The idea, Plebuch explains, was to find patterns in the data. A group of people who share segments on the same chromosome probably share a common ancestor. If Plebuch could find a group of relatives who all shared the same segment, she might be able to use that along with their family trees, family surnames, and ancestors' home towns in the old country to trace a path into her father's biological family.

The work was slow and painstaking, complicated by the fact that Ashkenazi Jews frequently marry within the group and often are related in multiple ways. This can make distant relatives look like a closer match than they actually are. But the sisters forged on, sending at least 1,000 requests for genome-sharing to DNA cousins through 23andMe. It became Plebuch's full-time job.

Some ignored their overtures, while others were drawn in by the saga and devoted their own efforts to helping the sisters untangle it. It was as if the Collins sisters had plugged into a larger family, a web of strangers who wanted to help because generations before, their ancestors had shared soup, shared heartache, slept in the same bed.

One DNA cousin made a clever suggestion: Why not search for evidence of a baby born around the same time under a common Jewish surname, Cohen? He reasoned that the nurses, perhaps relying on an alphabetical system, might have confused a Collins baby with a Cohen baby. CeCe Moore was by now volunteering to advise Plebuch, and with additional help from Tannenbaum and the New York City Birth Index of 1913, Plebuch found a Seymour Cohen born in the Bronx on Sept. 23. DNA cousins fanned out on the Internet, tracking down a descendant of Seymour's sister.

Plebuch wrote to the woman, a professor in North Carolina, and offered to pay for her test kit if she'd contribute something completely free and absolutely priceless: her saliva. The woman agreed.

Weeks later, the results came back. No relation.

After that red herring, Plebuch decided to dive deeper into the 1913 birth index, to find babies who were in the hospital at the same time as her father. It was no easy task: The list of children born in the Bronx in 1913 ran 159 pages, was not ordered by date, and didn't distinguish hospital births from home births. But she manage to isolate all the male children born on Sept. 23, as well as the day after and the day before. She further narrowed the list to names that sounded either Jewish or ethnically neutral 30 babies in all.

Her hope was that one of those babies would share a surname with one of the people that the DNA matching sites identified as a likely relative. So she searched methodically.

"Appel" nothing. "Bain" nothing. "Bamson" nothing.

It was another dead end.

The sisters went back to the chromosome segment matching, both at 23andMe and Family Tree DNA, where they had also uploaded their genetic data. They bought at least 21 DNA test kits for themselves, relatives and strangers suspected of being relations. Plebuch found she and her siblings matched to 6,912 likely DNA relatives, with 311,467 "segment matches" among them segments along the chromosomes that overlapped with those of the Collins children. Which is to say, 311,467 potential clues.

The data they had kept on spreadsheets quickly became overwhelming, so their brother Jim, a retired software and systems engineer who had worked on NASA supercomputers, designed an iPad app called DNAMatch to help them and other seekers keep their data straight.

Plebuch was determined, and unusually well suited to the task of solving a puzzle hidden in big data. She and Wiggins searched this way for two and a half years. But she was having no luck finding someone closely related to her father's biological family they simply weren't in the system.

Perhaps they didn't know about DNA testing, or couldn't afford it, or weren't interested.

All the sisters could do was keep working and waiting, hoping the DNA testing revolution would make its way to strangers who shared their blood.

---

Ultimately, the crack in the case came not through Plebuch's squad of helpful DNA cousins, but through a stranger with no genetic connection.

It was Jan. 18, 2015, a Sunday, and Plebuch was feeling down. She was writing an email to her cousin Pete Nolan the beloved relative it turned out she wasn't really related to to update him on her stalled search.

As administrator of his 23andMe account, she had permission to check the list of his DNA relatives yet rarely did so, since new relatives rarely showed up. But she decided to check it this day and this time, there was a new person. A stranger had just had her saliva processed, and she showed up as a close relative of Nolan.

Plebuch emailed the woman and asked if she would compare genomes with Nolan. The woman agreed, and Plebuch could see the segments where her cousin and the stranger overlapped. Plebuch thanked her, and asked if her results were what she expected.

"I was actually expecting to be much more Ashkenazi than I am," the woman wrote. Her name was Jessica Benson, a North Carolina resident who had taken the test on a whim, hoping to learn more about her Jewish ethnicity. Instead, she wrote, she had discovered "that I am actually Irish, which I had not expected at all."

Plebuch felt chills. She wrote back that her father had been born at Fordham Hospital on Sept. 23, 1913. Had anyone in the Benson family been born on that date?

Jessica replied. Her grandfather, Phillip Benson, might have been born around that date, she wrote.

Plebuch began to cry.

She started combing through her list of baby names from the 1913 Index. No "Benson" born that day in the Bronx. But then, well after midnight, she found it:

The New York City Birth Index had a "Philip Bamson," born Sept. 23 one of the names she had searched among her DNA cousins. This had to be Phillip Benson, his name misrecorded on his birth certificate.

Read the rest here:
She thought she was Irish until a DNA test opened a 100-year-old mystery - Chicago Tribune

Recommendation and review posted by sam

Ok I managed to get them done. Woooh.

They are NON DEFAULT skins so you will need Rez Delnavas UI mod in order to use them.They come in Faces only OR the full set which includes my anatomical skins.They come in all base flesh tones and I added a bonus rainbow tone slider.

DOWNLOAD

FACES ONLY mediafire / 4shared

FULL FACE & BODY SET mediafire / 4sharedThese come with my child/toddler bodies and my busty st claire and male muscular bodies.

I hope you like them. If you think I can fix anything let me know and I will keep it in mind for v2. Let me know if I stuffed anything up as well

<3

Here are those full non-default packages you requested.I edited the male faces slightly to suit the female ones.

Let me know if I borked anything.

SILK / 4shared includes females faces, male silk faces, busty st claire and muscular bodies, Jack & Jill faces and bodies, Ladybug faces and bodies.

VELVET / 4shared includes females faces, male velvet faces, busty st claire and muscular bodies, Jack & Jill faces and bodies, Ladybug faces and bodies.

<3

Hey guys, here are the new faces Ive been working on. I started these because I wanted an alternative to my current Naughty & Nice face skins. The nose on those is rather defined in the tip area which makes very nice button noses but not much else. I also wanted to take the time to fix a few other issues on the originals. The eyelids were bothering me, for example, among other things.

So I came up with Silk, its a smoother, more highlighted less shaded version of my original faces. The entire nose length is smooth and highlighted and I have muted a lot of the shaded areas on the face, for example the eye socket area, undereyes and the cheeks. The lip texture was smoothed and softened and the eyelid area was neatened up with the tear-ducts scaled down slightly.

Here is Silk:

From then I started playing with the nostril area and I ended up with a face that had a more defined nostril. I couldnt decide which I preferred and I knew that some of you would like silk whilst others would like velvet, so I decided to publish both.

Here is Velvet:

Here is a comparison of the three skins:

The elder face skins were also smoothed out a little to match the Silk & Velvet YA skins. The noses were changed accordingly.

Both faces come in Default and Non-Default and will match up with my Naughty & Nice and my Busty St Clair body skins.They also have custom sliders which have the names printed on them. The dots are black & white and the sliders come in a range of colours.

DOWNLOAD:

Silk Non Default Mediafire / 4sharedSilk Default Mediafire / 4sharedVelvet Non Default Mediafire / 4sharedVelvet Default Mediafire / 4shared

If you have previously downloaded the full set of Default Naughty & Nice Face/Body skins and wish to use one of these faces instead, then I suggest you remove the Naughty & Nice full set and just install the bodies instead then you can choose which faces you like.

You can download one of these faces as your default if you wish, and you can also have the other as a non-default. At the moment I have my Naughty & Nice faces installed, my Busty st Claire bodies and I have Silk and Velvet as non-defaults.

Enjoy <3

Credits:Escands Oh My EyesCmarNYCs SkininatorRez Delnavas UI Mod needed for Non-Defaults

Read the original here:
Genetics LadyFrontbum

Recommendation and review posted by Bethany Smith

We females always knew we could have sex when asleep, not that we want to, and that men can't. It turns out the same applies to fruit flies.

A vast international study by multiple institutions one can't have too many studying woo-woo in fruit flies has concluded that when male Drosophila are sleep-deprived, their interest in courtship disappears.

When the female is bushed, nothing happens to their mating behavior.

One way to deprive a fruit fly of sleep, would seem to be to offer it sex. The team also realized that aroused male Drosophilae got little sleep. Sexually aroused females slept fine.

Given the nature of the beasts, animals have to choose between sex and sleep. At least, the males do they can't do both at the same time. Now scientists have found how the choice is regulated, at least in the fruit fly.

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"An organism can only do one thing at a time," states the team, with Prof. Michael Nitabach of Yale, an expert on molecular physiology and genetics, in Nature Communications. "What we have discovered is a neuronal connection that regulates the interplay between courtship and sleep."

What Nitabach and his colleagues from the Howard Hughes Medical Institute, the Southeast University in China, and the University of San Diego, did is to study the neuronal activity involved in sex and sleep. They found that sleep-deprived male flies lost interest in courtship, but the females' mating behavior was unaffected.

Darwin would be proud

The evolutionary explanation they offer is a trivial one. The males' behavior is easily explained as adaptive: Falling asleep during sex is not a good way to pass on your genes, they stated.

But, they wondered, why are females still receptive to male advances when sleepy? One possibility is that as the recipient, they can afford to be. Another, postulated by Nitabach, is that the females can't afford to pass up an eligible suitor. But there are a lot of fruit flies out there. Ostensibly, the females would seem to be spoiled for choice.

The team also found functional connections between the different nervous centers that mediate sex and sleep, they say. Nitabach's conclusion is that whichever behavior has the highest biological drive at a given moment physiologically suppresses the yen for the other behavior. Thus, when a boy fly wants sleep badly enough, it depresses his sex drive, and vice versa.

So, is the human drive for sex and the human desire for sleep also controlled by our neurons? Probably, at least to some degree. Just like the fruit fly, there are other factors in play.

Read the rest here:
When the male fruit fly gets a headache - Haaretz

Recommendation and review posted by sam

WILLIAMSTOWN, Mass. Two grants from the National Science Foundation (NSF) will support ongoing research by Luana Maroja, associate professor of biology at Williams College, into evolutionary genetics. The grants, totaling $137,315, were recently approved by the NSF.

The grants will support two projects Maroja is working on related to speciation and genetics. The first grant, for $91,173, will support collaborative research Maroja and her students are undertaking with Cornell University on the importance of sex chromosomes in speciation, specifically looking at whether genes that do not transfer genetic information from one species to another during hybridization are concentrated on the X chromosome. The project will provide important insights into the genomic architecture of speciation, the role of the X chromosome in reproductive isolation and divergent adaptation, and will contribute to ongoing debates about how differentiation accumulates in genomes over time.

As part of the project, Maroja and her students will develop evolution workshops aimed to help educate middle and high school students.

The second grant of $46,142 will support a project in collaboration with Union College to understand processes that cause speciation. The project will test if chromosomal rearrangements (CRs) are involved in speciation using three distinct races of fruit flies. Maroja and her students will genetically map speciation phenotypes, male courtship song and female mating preferences for male song between two pairs of fruit fly races to determine certain traits are shared across the species. The project also will test whether CRs act to reduce gene exchange between nascent species by comparing patterns of genomic divergence inside CRs.

As part of this project, Maroja will develop evolution lab workshops aimed to help educate middle and high school students in Williamstown. She also will continue to develop workshops and labs for underserved girls and minorities in a partnership with the Flying Cloud Institute.

Maroja has taught at Williams since 2010. She has a bachelor's and master's degree from the Universidade Federal do Rio de Janeiro, and in 2008 she received a Ph.D. from Cornell.

View post:
Williams Professor Wins Grants to Study Evolutionary Genetics - iBerkshires.com

Recommendation and review posted by simmons