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The high-profile journal Science recently named “reprogramming cells” as the 2008 breakthrough of the year. By inserting genes that rewind a cell’s developmental time clock, scientists were able to transform skin cells from patients with a variety of diseases and coax them back into stem cells. These transformed cells will hopefully not only provide novel tools to study the underlying disease process but may, one day, be used to treat patients with their own cells, thereby thwarting potential immunological responses. Several labs are pursuing this approach for Rett Syndrome. To view a video that explains this exciting development please visit the Science website.
First clinical trial using human embryonic stem cells is approved
Geron Corporation announced last week that the FDA has approved the company’s Investigational New Drug (IND) application for the clinical trial of GRNOPC1 in patients with acute spinal cord injury. Geron will initiate a Phase 1 clinical trial to establish safety of GRNOPC1 in patients with acute spinal cord injuries.
“The FDA’s clearance of our GRNOPC1 IND is one of Geron’s most significant accomplishments to date,” said Thomas B. Okarma, Ph.D., M.D., Geron’s president and CEO. “This marks the beginning of what is potentially a new chapter in medical therapeutics – one that reaches beyond pills to a new level of healing: the restoration of organ and tissue function achieved by the injection of healthy replacement cells. The ultimate goal for the use of GRNOPC1 is to achieve restoration of spinal cord function by the injection of hESC-derived oligodendrocyte progenitor cells directly into the lesion site of the patient’s injured spinal cord.”
To read more please visit the Geron website.
RSRT is supporting a project that will screen FDA approved drugs and compounds in a mouse model of Rett Syndrome. The project will take place in the lab of Andrew Pieper at UTSW. To learn more about this project please visit the RSRT website.
In late September we introduced the Sponsor a Drug initiative in conjunction with the launch of our website. As part of that initiative we invited families to recruit their relatives/friends/colleagues to sponsor drugs in honor of their child. The family with the most drugs sponsored by January 15 wins a week-long vacation for two to Ireland.
We are pleased to introduce the winners: Kevin and Dominique Coloton from St. Paul, Minnesota. Their daughter, Catalina, was 21 months old when she was diagnosed in September with Rett Syndrome. The Coloton’s raised over $23,000 for this initiative. We are extremely appreciative of their efforts and for the generosity of their relatives and friends. Dominique, a physician in both internal medicine (adults) and pediatric medicine, and Kevin, an executive at Target Corporation in their Health Care division, comment on their efforts with the Sponsor a Drug effort:
“While we came to terms with Catalina’s diagnosis, we spent significant time learning about Rett Syndrome, resources for families, and ongoing research in areas that could impact Rett Syndrome. During this time we were impressed with RSRT, the mission, and the research that they are funding, so we decided to ask our friends and families to make donations to this organization in honor of Catalina. We composed an email to send to all of our friends and family sharing with them our sadness and grief over lost dreams, yet highlighting our hope for a cure. We enthusiastically talked about how hopeful we are that a cure will be found in her lifetime and how the dedicated researchers around the world, especially those associated with RSRT are working hard to help find the key to unlocking Rett Syndrome. We are so thankful to all those who have chosen to support Rett Syndrome research, although we know that our work is far from complete. We as a family and as a community need to continue to be dedicated to promoting the importance of this research in order to find a cure for our daughters around the world with Rett Syndrome.”
The Colotons will be staying at the Ashley Park Bed and Breakfast in Tipperary County, Ireland. The week-long stay at the B&B is graciously offered by the family of Margaret McKenzie from London. Margaret’s daughter, Katherine, who also had Rett Syndrome, died last year at the tender age of 8. Margaret and her family are hopeful that Rett research will spare future girls the suffering that Katherine endured and that the McKenzie family continues to deal with.
We thank all our families for their participation and in particular Paula and David Southren, Jennifer and Tommy Lopez, Ingrid and Peter Harding, Bridget and Scott MacDonald and Pam and Tony Scarano. We also thank the Israel Rett Syndrome Center, Stichting Rett Syndroom and Mikyla-Cure for their support.
Please know that we continue to need your support. We are 1/3 of the way to our goal with just over 1000 drugs sponsored. While a trip to Ireland is wonderful we all have our eye on the real prize. We still need to recruit 2000 additional drug sponsors. Please consider joining our efforts. Contact us to join our efforts.
We draw your attention to an excerpt from the upcoming memoirs of Harold Varmus, The Art and Politics of Science, (Norton Books, Feb. 2009). Dr. Varmus served as the director of the National Institutes of Health from 1993 to 1999, and is now president of Memorial Sloan-Kettering Cancer Center in New York City. Dr. Varmus was awarded the Nobel Prize in 1989 with J. Michael Bishop for discovering that retroviral oncogenes had a cellular origin. In this excerpt Dr. Varmus discusses the difficulties involved in setting research priorities. In particular he discusses the disadvantages of designating particular dollar amounts for disease-specific research. He explains that discoveries in science are often quite serendipitous and that breakthroughs in one area turn out to have unexpected benefits in often unrelated disciplines.
We have a very clear example of this in Rett Syndrome. Pre-1999 no Rett-focused organization would have entertained the notion of providing support to Adrian Bird who was studying methylation. However, Huda Zoghbi’s discovery a decade ago that Rett Syndrome is caused by mutations in MECP2 put Adrian Bird front and center in the Rett field. He had discovered the MeCP2 protein in the early 1990’s and for years no one knew that “his” protein is responsible for multiple neurological diseases when mutated. There are countless prime examples of the importance of funding high quality basic science regardless of any potential disease orientation. As the new administration assumes power it is imperative that increased funding for NIH be a part of reestablishing the economic, intellectual and scientific strengths of this country.
One of the most difficult aspects of the job of running the NIH, or of directing any individual institute, is the designation of research priorities. This is an emotionally and politically sensitive part of the job because it is closely watched by some of NIH’s strongest supporters, who often advocate for the NIH because of a passionate interest in a small fraction of what the NIH does. That fraction is almost always a specific disease or even a subset or facet of that disease.
Shifts in funds assigned to the mechanisms for supporting research, such as the intramural versus the external grant programs, or differential growth of budgets for individual institutes, are often easier to absorb than changes that affect the dollars devoted to specific diseases. Directives to alter allocations for disease-oriented programs are especially problematic if they occur abruptly or come at the expense of research on another disease. The situation may be further complicated if the directives are demands from powerful people rather than consensual decisions.
To read the excerpt in its entirety please visit The Scientist website. (free registration may be required)
To continue our two-part interview with Huda Zoghbi, MD, we have just added these topics to our interview page:
- Jan and Dan Duncan Neurological Research Institute (NRI)
- Rett Syndrome and autism
Dr. Zoghbi has recently been appointed as Director of NRI which upon completion in 2010 will be the world’s first comprehensive children’s neurological center.