Illumina CEO Jay Flatley When Renee Valints daughter Shelby was born in 2000, she seemed weak, like a rag doll. Shelby learned to walk and talk, but she did so slowly, missing developmental milestones. By age 4 she was confined to a wheelchair, and she started using a computerized voice to communicate in the fifth grade. Desperate, Renee took her from Phoenix to the Mayo Clinic in Rochester, Minn. for one last week of tests and discussion with some of the countrys top doctors. They all put up their hands and said, We have no idea whats wrong with her, says Renee. At that point she couldnt even move. I bathed her, fed her. She couldnt even swallow. I had to thicken her liquids so she could swallow without choking. It was like a nightmare. That was it. There was nowhere else to go. But then doctors at the Translational Genomics Research Institute in Phoenix used a new technologyDNA sequencingto look at Shelbys genes. Based in part on what they found, they guessed that she might respond to the same dopamine-boosting medicines that are given to Parkinsons patients. Three months later Shelby got up out of her wheelchair. The next … Continue reading →

If doctors discovered you had a 30 per cent chance of developing colon cancer, would you want to know? What if that probability was only 10 per cent, or perhaps as high as 50? Maybe it would depend on what you could do to improve your prognosis or whether the information would be confidential. These ethical issues are becoming increasingly relevant following the announcement this month of a landmark 300m project to sequence the genomes of 100,000 NHS patients. The programme, which will last four years, is part of the developing field of personalised medicine and it aims to use genetic data to customise medical treatments. Currently, many diseases are defined by their symptoms or the site of occurrence. Greater understanding of the genetic causes of illness suggests that this method of categorisation might not be the most accurate. For instance, scientists now believe that cancer is better understood as a plethora of diseases rather than a single one because of the variety of underlying genetic mutations. Improved awareness of these genetic factors raises thepotential of new treatment options. Up to one in four cases of breast cancer is caused by a mutation in the gene thatencodes the HER2 protein. … Continue reading →

Illumina Illumina, the leading maker of DNA sequencing equipment, is partnering with Sanofi Sanofi, AstraZeneca AstraZeneca, and Johnson & Johnson Johnson & Johnson to create a test for more mutations in dozens of genes that will be used first in clinical trials and, eventually, to help decide which patient should get which marketed drug. The tool is necessary because new cancer drugs like Roches Zelboraf and Astras Iressa work only against cells that became cancerous because of particular genetic mutations. Detecting these mutations will allow doctors to pick drugs and cocktails of drugs aimed at the molecular machinery of a particular tumor. For instance, some research has shown that if a colorectal cancer tumor has a particular mutation, it might respond to the combination of a drug like Zelboraf and one like Iressa. Illumina CEO Jay Flatley leads the innovative company. Earlier this year, I met with Richard Klausner, Illuminas chief medical officer and the former director of the National Cancer Institute. He told me that he had been visiting large pharmaceutical companies with plans to develop a kind of master test. The idea is that companies would tell Illumina what cancer genes they are developing drugs targeted against. Then, … Continue reading →

Researchers say Tibetans have a genetic variation that enables them to survive in high altitude, low oxygen environments This could explain how they can survive at heights of 14,800 feet (4,510m) The mutation is believed to have originated 8,000 years ago It gives them a selective advantage in their environment over other humans Finding could lead to novel solutions for diseases such as cancer Tibet is a high-altitude plateau region north-east of the Himalayas in China By Jonathan O'Callaghan for MailOnline Published: 03:43 EST, 21 August 2014 | Updated: 07:54 EST, 21 August 2014 35 shares 17 View comments Sure, Wolverine's claws were impressive, but how would one of the most famous X-Men have coped if he'd tried to survive at a height of over 14,000ft (4,270 metres)? The answer would most likely be 'not well', but while off-limits to some, it turns out that people such as Tibetans can thrive in the thin air of high-altitude areas thanks to an 8,000 year-old mutation. Researchers say they've successfully identified this genetic variation for the first time, and it could explain how some people can survive in these extreme environments. Researchers say Tibetans (pictured) have a genetic variation that enables them … Continue reading →

PUBLIC RELEASE DATE: 21-Aug-2014 Contact: Glenna Picton picton@bcm.edu 713-798-7973 Baylor College of Medicine HOUSTON (Aug. 21, 2014) An international scientific collaboration led by Baylor College of Medicine has revealed clues about genetic alterations that may contribute to a rare form of kidney cancer, providing new insights not only into this rare cancer but other types as well. The collaboration, a project of the National Institutes of Health's Cancer Genome Atlas initiative, completed the sequence of chromophobe renal cell carcinoma and published the results today in the journal Cancer Cell. "The Cancer Genome Atlas is a federally funded national effort that has already completed the sequence of many major types of cancer (breast, lung, ovarian, for example), but this project is now branching out to sequence more rare types of cancer," said Dr. Chad Creighton, associate professor of medicine and a biostatistician in the NCI-designated Dan L. Duncan Cancer Center at Baylor and the lead and corresponding author on the report. "The idea is that with a better understanding of these more rare types of cancers, we gain new insight that might be relevant to how we study other types of cancer. The findings in this study are a perfect example … Continue reading →

(PRWEB UK) 21 August 2014 The success of stem cell medicine does not depend on funding alone Funding is of the upmost importance but access to the right material is vital. Stem Cell Banking of a childs own stem cells for potentially a lifetime of use, is a way of storing their health for their future. So it is vital that the right stem cells are available for treatment when they are needed at any time in their life. Tony Veverka, Group CEO of specialist stem cell bank BioEden says, "Funding is of the upmost importance so that research can continue, but access to the right material is vital." Gaining access to the right material for stem cell therapy has dramatically simplified since BioEden pioneered an entirely non-invasive method of taking stem cells from children's baby teeth. No longer is there just the option of stem cells from embryos, bone marrow or cord blood, but the option of taking quality cells from the baby tooth after it has fallen out naturally. BioEden believes it can cut NHS funding dramatically by individuals banking their own stem cells, and they continue to call for clarity and transparency so that a prolonged and … Continue reading →

US regenerative medicine company ViaCyte Inc said Thursday it had signed a rights deal with Janssen Research & Development LLC, part of US Johnson & Johnson (NYSE:JNJ), under which Janssen gets a future right to assess a transaction associated with ViaCyte's VC-01 candidate cell replacement therapy being developed for Type 1 diabetes. This right will be valid during the initial assessment of the clinical efficacy of VC-01. ViaCyte has also obtained USD 20 million (EUR 15.1m), including a rights fee and a note convertible into equity at a later date, from Janssen and Johnson & Johnson Development Corporation (JJDC), which is an investor in ViaCyte. This payment, along with a recent private equity financing transaction of USD 5.4 million, provides further resources for the additional development of VC-01 for insulin-dependent diabetes. ViaCyte intends to utilise the proceeds mainly to expedite the clinical development of the product candidate. As reported earlier this week, the US FDA accepted the company's Investigational New Drug (IND) application to start a Phase I/II study of VC-01 in Type 1 diabetes. The firm intends to commence soon the trial, which will investigate the safety and efficacy of the product. VC-01 contains pancreatic progenitor cells, named PEC-01 … Continue reading →

(PRWEB UK) 21 August 2014 Sally Bee TV personality and advocate of all things health, recently launched a competition to draw attention to the benefits of stem cell therapy and why having your own stem cells available is vital. Lucky winner Sarah Johnson, could not believe her luck when she received the call from specialist stem cell bank BioEden. Sarah has gifted her prize to her nephew George, whose stem cells will be taken from one of his baby teeth once a tooth has fallen out naturally. Sarah said, "We have experienced family members with cancer, alzheimers and parkinsons disease in recent years, so to have the opportunity to store my nephew George's stem cells, in case of any illness in later life is such a peace of mind to us." A spokesman for BioEden said Sarah had been selected at random from hundreds of entries, and were delighted that Sally Bee's support of stem cell banking has already started to help many people, including Sarah. Read the original: Winner of Stem Cell initiative and competition launched by TV personality Sally Bee, speaks out about her family ... … Continue reading →

Novartis ( NVS ) recently entered into an investment and option agreement with Israel-based Gamida Cell, a company which focuses on stem cell expansion technologies and therapeutic products. As per the terms of the agreement, Novartis will invest $35 million in Gamida Cell. In exchange, Novartis will receive a 15% stake in Gamida Cell and an option to fully acquire the company. The option for full acquisition is exercisable for a limited period of time following achievement of certain milestones in connection with the development of pipeline candidate, NiCord. These milestones are expected to be achieved during 2015. Novartis will also be required to pay the other shareholders in Gamida Cell approximately $165 million upon exercising the option along with potential milestone payments of $435 million. We note that Gamida Cell is developing stem cell therapy for the potential treatment of blood cancers, solid tumors, non-malignant hematological diseases such as sickle cell disease and thalassemia, neutropenia and acute radiation syndrome, autoimmune diseases and genetic metabolic diseases as well as conditions that can be helped by regenerative medicine. The company is currently evaluating NiCord for the potential treatment of hematological malignancies such as leukemia and lymphoma in a phase I/II study … Continue reading →