Daily Archives: April 7, 2017

Genetic testing company 23AndMe is back with a controversial new offering, after the U.S. Food and Drug Administration on Thursday green-lighted the companys request to market a fresh batch of direct-to-consumer tests. Soon, with a simple saliva swab dropped in the mail, customers will be able to get answers about their genetic risk for developing 10 maladiesincluding Parkinsons disease and late-onset Alzheimers.

The FDA approval will likely reignite a long-simmering debate about when and how such tests should be used. Even when there are strong links between certain gene variants and medical conditions, genetic information often remains difficult to interpret. It must be balanced against other factors including health status, lifestyle and environmental influences, which could sharpen or weaken risk. If disease risk news is delivered at homewithout a genetic counselor or doctor on hand to offer contextmany geneticists fear it can lead to unnecessary stress, confusion and misunderstandings.

Against that backdrop, the FDAs decision came with caveats: Results obtained from the tests should not be used for diagnosis or to inform treatment decisions, the agency said in a statement. It added that false positive and false negative findings are possible.

But geneticist Michael Watson, executive director of the American College of Medical Genetics and Genomics, thinks consumers will have trouble making such distinctions and says he doubts people will view them as a mere novelty. Watson also worries 23AndMes wares may create other problems: Follow-up testing for some of these conditions may be quite pricey, he says, and insurance companies might not cover that cost if a person has no symptoms. He also notes that some of the conditions involved may have no proved treatments, leaving consumers with major concernsand few options to address them, aside from steps like making some lifestyle changes.

The makeup of 23AndMes reports to consumers is still being finalized, but the company says it does not expect to grade or rank a persons risk of developing any of the 10 conditions approved for analysis. Instead it will simply report a person has a gene variant associated with any of the maladies and is at an increased risk, the company told Scientific American.

The FDA decision may significantly widen the companys market and top off a years-long debate about what sort of genetic information should be available to consumers without professional medical oversight. After the FDAs 2013 decision to stop 23AndMe from sharing data about disease risk with its customers, the company was still able to offer them information about their genetic ancestry. It has also been selling consumer tests for genes that would indicate whether people are carriers for more than 30 heritable conditions, including cystic fibrosis and Tay-Sachs disease.

This month 23AndMe plans to release its first set of genetic health-risk reports for late-onset Alzheimers disease, Parkinsons disease, hereditary thrombophilia (a blood-clotting disorder), alpha 1-antitrypsin deficiency (a condition that raises the risk of lung and liver disease), and a new carrier status report for Gauchers disease (an organ and tissue disorder). Reports for other tests will follow, the company says.

In considering whether to approve the tests, the FDA says it reviewed studies that demonstrated the 23AndMe procedures correctly and consistently identified variants associated with the 10 conditions. Further data from peer-reviewed scientific literature demonstrated the links between these gene variants and conditions, and supported the underlying science.

The FDA also announced on Thursday that it plans to offer the company exemptions for similar genetic tests in the future, without requiring them to be submitted for premarket review. That decision could leave the door open to offering tests for other conditions that have questionable reproducibility, says Jim Evans, a genetics and medicine professor at the University of North Carolina School of Medicine.

Read more here:
Too Much Information? FDA Clears 23AndMe to Sell Home Genetic Tests for Alzheimer's and Parkinson's - Scientific American

People withanorexia nervosahave a distorted body image and severely restrict their food to the point of emaciation and sometimes death. It's long been treated as a psychological disorder, but that approach has had limited results; the condition has one of the highest mortality rates among psychiatric conditions. But recently, neuroscience researchers at the UC San Diego School of Medicine who study the genetic underpinnings of psychiatric disorders have identified a possible gene that appears to contribute to the onset of the disease, giving scientists a new tool in the effort to understand the molecular and cellular mechanisms of the illness.

The study, published in Translational Psychiatry, was led by UC San Diego's Alysson Muotri, a professor at theSchool of Medicines departments of pediatrics and cellular and molecular medicine and associate co-director of the UCSD Stem Cell Program. His team took skin cells known as fibroblasts from seven young women with anorexia nervosa who were receiving treatment at UCSDs outpatient Eating Disorders Treatment and Research Center, as well as from four healthy young women (the study's controls). Then the team initiated the cells to become induced pluripotent stem cells (iPSCs).

The technique, which won researcher Shinya Yamanaka the Nobel Prize in 2012, takes any nonreproductive cell in the body and reprograms it by activating genes on those cells. You can push the cells back into the development stage by capturing the entire genome in a pluripotent stem cell state, similar to embryonic stem cells, Muotri tells mental_floss. Like natural stem cells, iPSCs have the unique ability to develop into many different types of cells.

Once the fibroblasts were induced into stem cells, the team differentiated the stem cells to become neurons. This is the most effective way to study the genetics of any disorder without doing an invasive brain biopsy, according to Muotri. Also, studying animal brains for this kind of disorder wouldnt have been as effective. At the genetic level as well as the neural network, our brains are very different from any other animal. We dont see chimpanzees, for example, with anorexia nervosa. These are human-specific disorders, he says.

Once the iPSCs had become neurons, they began to form neural networks and communicate with one another in the dish similar to the way neurons work inside the brain. Basically what we have is an avatar of the patients brain in the lab, Muotri says.

His team then used genetic analysis processes known as whole transcriptome pathway analysis to identify which genes were activated, and which might be associated with the anorexia nervosa disorder specifically.

They found unusual activity in the neurons from the patients with anorexia nervosa, helping them identify a gene known as TACR1, which uses a neurotransmitter pathway called the tachykinin pathway. The pathway has been associated with other psychiatric conditions such as anxiety disorders, but more pertinent to their study, says Mutori, is that tachykinin works on the communication between the brain and the gut, so it seems relevant for an eating disorderbut nobody has really explored that. Prior research on the tachykinin system has shown that it is responsible for the sensation of fat. So if there are misregulations in the fat system, it will inform your brain that your body has a lot of fat.

Indeed, they found that the AN-derived neurons had a greater number of tachykinin receptors on them than the healthy control neurons. This means they can receive more information from this neurotransmitter system than a normal neuron would, Muotri explains. We think this is at least partially one of the mechanisms that explains why [those with anorexia] have the wrong sensation that they have enough fat.

In addition, among the misregulated genes, connective tissue growth factor (CTGF), which is crucial for normal ovarian follicle development and ovulation, was decreased in the AN samples. They speculate that this result may explain why many female anorexia patients stop menstruating.

Muotrinext wants to understand what he calls the downstream effect of those neurons with too many TACR1 receptors. In other words, how does it affect the neurons at a molecular level, and what information do those neurons receive from the gut? This link between the brain and the gut is unclear, so we want to follow up on that, he says.

He also wants to look into thepotential to design a drug that could compensate for the large amount of TACR1 receptors, and the over-regulation of that receptor in the brainwhich would be a huge development for the notoriously difficult-to-treat disease.

While Muotri is excited about new avenues of research that can follow from this work, he doesn't see it as a panacea for the disease, but a way to begin to understand it more fully. He says, Its a good start, but arguably you have to understand what are the other environmental factors that contribute.

The rest is here:
Scientists Say They've Identified a Gene Linked to Anorexia - Mental Floss

OMAHA, Neb. (WOWT) -- This week, researchers unveiled encouraging news in the fight against cancer as the FDA fast-tracked a specific type of gene therapy. Nebraska Medicine is one of only a handful of cancer in the country participating in a clinical cancer for non-Hodgkins lymphoma.

Amy Cheese, a 3rd grade teacher from Colorado stepped away from the classroom last year hoping to find a treatment that would save her life. She had run out of treatment options for her cancer in the blood.

Nothing was shrinking the grapefruit-sized tumor in her chest.

So she came to Omaha where her CAR t-cells would get a science make-over.

It works like this: we all have t-cells to fight infection. But in a cancer patient, they go haywire.

Her cells are sent from Omaha to a California lab to be re-engineered, and returned two weeks later to pinpoint the cancer and destroy it.

We were there in January when Dr. Julie Vose in Oncology revealed whether the therapy was working for Amy.

Dr. Vose: Continuing improvement. Its now 2.7 and that means complete remission. Amy: Oh really. Wow. I have to hug Susan. Susan: Its awesome. Amy: I didnt think it was ever going to happen. Thats what everybody wants to hear. Complete remission.

Successful cases like Amy Cheeses has the FDA expanding the reach of the clinical trials.

About 60% of the patients had a complete remission, said Dr. Vose in an interview with WOWT 6 News this week. Meaning that at the end of the therapy theres no sign of the lymphoma. 3-months after that there was 40% of the patients in complete remission, which may not seem like a lot but these are patients who had failed every other therapy they could possible fail.

Amy Cheese recently had her 6-month check-up. She remains in complete remission.

Doctors believe this breakthrough cancer therapy could one day apply to all cancers. As a big picture, said Dr. Vose, I think it has huge and incredible potential.

With the FDA fast-tracking this method, doctors say more patients will now be a part of a larger clinical trial.

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FDA fast-tracks Nebraska Medicine clinical trial - WOWT

April 7, 2017 Susan Ross with her partner Paul Appleby. Credit: Newcastle University

Cancer patients in America are now receiving a life-extending drug developed by scientists at Newcastle University.

Women with recurrent ovarian cancer have access to the pioneering treatment, Rubraca, following approval of the drug in the USA by the Food and Drug Administration (FDA).

First discovered approximately 20 years ago, and arising from research initiated at Newcastle University by Cancer Research UK-funded scientists, Rubraca has been approved for ovarian cancer patients with a faulty BRCA gene.

Studies have shown that the oral medication has a high success rate as 54% of women on clinical trials had complete or partial shrinkage of their tumour for an average of 9.2 months.

It is hoped that Rubraca will get approval by the European Medicines Agency within the next year. If then approved by the National Institute for Health and Care Excellence and the Scottish Medicines Consortium, it would allow ovarian cancer patients in the UK with a BRCA gene mutation to access the new treatment.

Dr Yvette Drew, Senior Lecturer at Newcastle University and Honorary Consultant in Medical Oncology at Newcastle upon Tyne Hospitals NHS Foundation Trust, has led the clinical development of Rubraca in the North East.

She said: "It is fantastic that patients are now receiving Rubraca and we are hopeful that women in Britain will also have the opportunity to access this ground-breaking treatment in the future.

"Rubraca is a well-tolerated oral drug, allowing women to have a better quality of life for longer without debilitating side-effects that are often seen with chemotherapy.

"The approval of this medication is a great achievement for the Newcastle University team and is an example of what can be achieved when scientists and oncologists work together to target a specific type of cancer at the molecular level."

Rubraca, also known as rucaparib, is a class of drug called a PARP inhibitor which exploits a defect in the cancer cell's ability to repair normal wear and tear to its DNA to kill the tumour cells without unduly harming healthy cells.

The FDA has approved the use of Rubraca for women with ovarian cancer who have been treated with two or more chemotherapies and whose tumours have a BRCA mutation.

Each year, around 7,000 women are diagnosed with ovarian cancer across the UK and one in 50 women will develop ovarian cancer at some point in their life.

Around 15% to 20% of women with ovarian cancer will have a BRCA gene mutation, putting them at increased risk of developing other cancers and a 50% risk of passing the faulty gene to their children.

Ruth Plummer, Clinical Professor of Experimental Medicine at the Northern Institute for Cancer Research, Newcastle University, was the first clinician to prescribe Rubraca.

Professor Plummer, Consultant Medical Oncologist at Newcastle upon Tyne Hospitals NHS Foundation Trust, said: "The licensing of Rubraca by the FDA is very exciting and the culmination of many years of work by cancer researchers in Newcastle.

"We have been seeing patients benefit clinically from PARP inhibitors in clinical trials for a number of years and it is fantastic that this drug will now become more widely available."

Newcastle University researchers - Professors Hilary Calvert, Nicola Curtin, Barbara Durkacz, Bernard Golding, Roger Griffin, Herbie Newell and Ruth Plummer - were part of a multi-disciplinary team that discovered and developed Rubraca.

Emma Greenwood, Cancer Research UK's director of policy, said: "We're delighted that Rubraca has been licensed for use by the FDA, particularly when Cancer Research UK-funded scientists working at Newcastle University discovered and developed the drug in the early 1990s in collaboration with industry partners.

"The drugone of an exciting group of drugs that exploit the weaknesses cancer cells have in repairing damaged DNAwill offer new hope to women with advanced ovarian cancer.

"We hope it could one day treat other cancer types and clinical trials are underway to discover its potential."

Patient's story

Susan Ross has been on Rubraca under Dr Drew's care at the Freeman Hospital's Northern Centre for Cancer Care in Newcastle for more than a year and is living life to the full.

The 59-year-old, of Whitley Bay, was diagnosed with ovarian cancer with a BRCA gene mutation 10 years ago and says she feels great after being given the drug as part of a clinical trial.

Susan has been on Rubraca since December 2015 when her ovarian cancer returned and was not operable. Her tumour has shrunk completely and she continues to receive the treatment as part of a clinical trial.

She said: "I feel the best I've felt since before my ovarian cancer diagnosis in 2007. I have my life back and I've been to far afield countries like Australia and Japan.

"I'm so lucky to have been given Rubraca as part of a clinical trial and it is great patients in America are able to access this treatment - I hope patients in the UK will also have this opportunity in the future.

"The team at Newcastle University should be very proud of what they have achieved as Rubraca is offering hope to ovarian cancer patients with the BRCA gene mutation that they can live their life well.

"Since I have been on Rubraca I've felt well enough to get a part-time job and I'm also considering taking up golf.

"I would like to thank all those who have been involved in Rubraca's development and to the clinical team who have looked after me so well."

Susan underwent four operations and three rounds of chemotherapy before being enrolled on the clinical trial. She continues to be closely monitored with regular CT scans.

Explore further: FDA clears ovarian cancer drug for hard-to-treat disease

U.S. health officials have approved a new option for some women battling ovarian cancer: a drug that targets a genetic mutation seen in a subset of hard-to-treat tumors.

About one-third of patients with ovarian cancer who wouldn't be expected to respond to a PARP inhibitor had partial shrinkage of their tumor when a kinase inhibitor was added to treatment, report scientists from Dana-Farber ...

(Medical Xpress) -- Cancer Research UKs Drug Development Office has re-launched a trial of a promising drug to treat inherited breast and ovarian cancer but this time taken as a tablet by outpatients.

According to the Centers for Disease Control and Prevention, more than 20,000 women in the U.S. are diagnosed with ovarian cancer each year. September is Ovarian Cancer Awareness month and physicians want to raise awareness ...

(Medical Xpress)A new cancer drug designed to be effective in tumours with faulty BRCA genes has generated impressive responses in an early-stage clinical trial.

A pioneering cancer drug set to become the first to be approved specifically for inherited cancers could also be used much more widely to treat prostate cancer, a world-leading expert said today.

A world-first book combining evolutionary ecology and oncology aims to improve cancer prevention and therapies.

More typically, these immature immune cells might help us fight cancer, but scientists have now shown cancer can commandeer the cells to help it spread.

A team of investigators has determined that young children participating in a clinical trial to assess the effectiveness of reduced radiotherapy did worse when there were deviations from the treatment protocol. Results of ...

Australian scientists have uncovered a promising new approach to treating pancreatic cancer, by targeting the tissue around the tumour to make it 'softer' and more responsive to chemotherapy. The findings are published today ...

A study of nearly 280,000 women in the United States has found that living in areas with a high level of fine particles from air pollution may increase a woman's chance of having dense breasts - a well-established risk factor ...

In 2016, more than 181,000 new cases of prostate cancer were reported in the U.S., according to the American Cancer Society. The prostate-specific antigen (PSA) test is one of the earliest ways clinicians can detect prostate ...

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Ovarian cancer patients get access to life-extending drug - Medical Xpress