Day 1 of the NAF Conference: it’s always drizzly in Sea-Tac

Andrea is guest blogging with Richard in covering this year’s National Ataxia Foundation conference in Seattle (or more specifically, Sea-Tac, as the city’s mayor kindly pointed out as he welcomed the participants this morning). Spending the latter portion of my spring break here has been as educational as being in class. The opening lecture, reviewing the genetic basis of ataxia, compacted “3 years worth of cellular biology,” in Dr. Perlman’s words. Dr. Laura Ranum used the apt metaphor of drinking from a fire hydrant to describe the knowledge influx in medical research. At the top of the research agenda is integrating the findings from all these molecular genetic and neuropathological studies into understanding how to treat the various types of ataxia.

Ataxia experts Dr. Ranum, Dr. Harry Orr and Dr. SH Subramony, succinctly discussed upcoming trends in ataxia studies, with basic scientific research evolving into transitional research. Ataxia research has promising new avenues for funding, which is critical for these medical investigations to progress. Despite the woes of the current economic climate, the NIH has received an additional $8.2 billion for clinical and translational research, among other areas of medical interest. So far this year, 9 approved research grants, out of 48 applications processed, will be receiving $484,000 from the NAF. Researchers want to capitalize on the $1 million NIH challenge grants with an unprecedented, accelerated funding approval process; these challenge grant studies should be starting earliest 9/30/09. We’ll be staying tuned for tomorrow’s presentations focusing on these individual experts’ upcoming trials and how ataxia patients can become involved.

The conference has engaged much peer-to-peer interaction and education. Researchers lucidly presented this complex material to the general audience of patients and caregivers, as well as updating their fellow experts about developments in the field. Kudos to Corrie Smith’s presentation on genetic testing for being extremely accessible and thoughtful in considering the complexity of ethical implications involved for all parties. The “Birds of a Feather” breakout sessions were particularly valuable, with each session focusing on a different group affected by ataxia so that caregivers, people with SCA 3, individuals with Friedrich’s, etc. could discuss their experiences with each other. In between workshops and presentations participants were mingling with each other, discussing their experiences with various physical therapies, diet/supplement regimens, drugs and other treatments and recommending what they had found effective.

The accommodations at the Doubletree have generally been accessible: the low-pile carpets are wheelchair-friendly, there are plenty of places to sit along the hallway, and most of the workshops have been on the first floor. The booths outside the main presentation area featured all sorts of useful pamphlets and booklets, local support services for Washington area ataxia patients, and opportunities for attendees to participate in some new studies on the spot. If you’re a conference attendee reading this and have some time tomorrow, please stop by UC Berkeley research coordinator Nola Klemfuss’s experimental set up. She’s conducting non-invasive, physically undemanding studies on visuo-motor coordination and could really use some more folks to participate. Compensation is $20/hour, and participation takes about 1.5 hours. Richard participated in her study and can vouch that it’s interesting.

We look forward to keeping you posted on the latest clinical trials and RNAi research in the next two days.

More good news

"Major advance" reported in stem-cell research

By Karen Kaplan

Los Angeles Times

Borrowing a biological cut-and-paste trick from bacteria, scientists have created the first personalized stem cells for patients that are free of the cancer-causing viruses and genes needed to make them, according to a study to be published today in the journal Cell.

The stem cells, derived from skin samples provided by five patients with Parkinson's disease, were first transformed into the undecided state of cells in an early embryo. Then, they were used to make the dopamine-manufacturing neurons that are lost to disease.

The technique removes a key barrier to using a special class of stem cells called an induced pluripotent stem cell, or iPS cell, to create replacement parts for patients that could be transplanted without any risk of rejection — the ultimate goal of regenerative medicine.

"This is a major advance in the field," said Dr. Marius Wernig, an assistant professor at the Stanford Institute for Stem Cell Biology and Regenerative Medicine, who wasn't involved with the study.

The reprogramming of skin cells into iPS cells, which have the potential to become any kind of cell in the body, is one of the hottest areas of biological research. The cells seem to offer all the benefits of embryonic stem cells without any of the ethical drawbacks. They are also ideally suited to making genetically matched tissues for patients, such as insulin-secreting islet cells for people with diabetes or brain tissue to treat stroke victims.

The reprogramming process requires that scientists turn on a handful of genes that are active during early embryonic development but dormant in normal skin cells. Most researchers rely on infecting the cells with viruses to do this job. But these viruses may also lead to cancer, as can some of the genes used for the reprogramming job.

Dr. Rudolf Jaenisch, a stem cell researcher at the Massachusetts Institute of Technology and the Whitehead Institute for Biomedical Research in Cambridge, Mass., and his colleagues found a way to remove the viruses and genes once their work was done.

They engineered three viruses that contained the reprogramming genes — known as Klf, Sox2 and Oct4 — flanked by pieces of DNA called loxP sequences. After the skin cells were transformed into colonies of iPS cells, the scientists activated a protein that snipped out everything between the loxP sequences.

The technique is commonly used to modify the DNA in cells, and Jaenisch decided to try it with iPS cells.

"We borrowed it from bacteria," said Jaenisch, the study's senior author. "Bacteria need it for certain genetic manipulations."

Hallelujah!

This just appeared over the newswire:

Source: Obama to reverse limits on stem cell work

By BEN FELLER and LAURAN NEERGAARD, Associated Press Writers

WASHINGTON – Reversing an eight-year-old limit on potentially life-saving science, President Barack Obama plans to lift restrictions Monday on taxpayer-funded research using embryonic stem cells. The long-promised move will allow a rush of research aimed at one day better treating, if not curing, ailments from diabetes to paralysis — research that crosses partisan lines, backed by such notables as Nancy Reagan and the late Christopher Reeve. But it stirs intense controversy over whether government crosses a moral line with such research.

Obama will hold an event at the White House to announce the move, a senior administration official said Friday. The official spoke on condition of anonymity because the policy had not yet been publicly announced.

Embryonic stem cells are master cells that can morph into any cell of the body. Scientists hope to harness them so they can create replacement tissues to treat a variety of diseases — such as new insulin-producing cells for diabetics, cells that could help those with Parkinson's disease or maybe even Alzheimer's, or new nerve connections to restore movement after spinal injury.

"I feel vindicated after eight years of struggle, and I know it's going to energize my research team," said Dr. George Daley of the Harvard Stem Cell Institute and Children's Hospital of Boston, a leading stem cell researcher.

But the research is controversial because days-old embryos must be destroyed to obtain the cells. They typically are culled from fertility-clinic leftovers otherwise destined to be thrown away.

Under President George W. Bush, taxpayer money for that research was limited to a small number of stem cell lines that were created before Aug. 9, 2001, lines that in many cases had some drawbacks that limited their potential usability.

But hundreds more of such lines — groups of cells that can continue to propagate in lab dishes — have been created since then, ones that scientists say are healthier, better suited to creating treatments for people rather than doing basic laboratory science.

Work didn't stop. Indeed, it advanced enough that this summer, the private Geron Corp. will begin the world's first study of a treatment using human embryonic stem cells, in people who recently suffered a spinal cord injury.

Nor does Obama's change fund creation of new lines. But it means that scientists who until now have had to rely on private donations to work with these newer stem cell lines can apply for government money for the research, just like they do for studies of gene therapy or other treatment approaches.

The aim of the policy is to restore "scientific integrity" to the process, the administration official said.

"America's biomedical research enterprise experienced steady decline over the past eight years, with shrinking budgets and policies that elevated ideology over science. This slowed the pace of discovery and the search for cures," said Sean Morrison, director of the University of Michigan's Center for Stem Cell Biology.

Critics immediately denounced the move.

"Taxpayers should not have to foot the bill for experiments that require the destruction of human life," said Tony Perkins of the conservative Family Research Council. "President Obama's policy change is especially troubling given the significant adult stem cell advances that are being used to treat patients now without harming or destroying human embryos."

Indeed, there are different types of stem cells: So-called adult stem cells that produce a specific type of tissue; younger stem cells found floating in amniotic fluid or the placenta. Scientists even have learned to reprogram certain cells to behave like stem cells.

But even researchers who work with varying types consider embryonic stem cells the most flexible and thus most promising form — and say that science, not politics, should ultimately judge.

"Science works best and patients are served best by having all the tools at our disposal," Daley said.

Obama made it clear during the campaign he would overturn Bush's directive.

During the campaign, Obama said, "I strongly support expanding research on stem cells. I believe that the restrictions that President Bush has placed on funding of human embryonic stem cell research have handcuffed our scientists and hindered our ability to compete with other nations."

He said he would lift Bush's ban and "ensure that all research on stem cells is conducted ethically and with rigorous oversight."

"Patients and people who've been patient advocates are going to be really happy," said Amy Comstock Rick of the Coalition for the Advancement of Medical Research.

The ruling will bring one immediate change: As of Monday, scientists who've had to meticulously keep separate their federally funded research and their privately funded stem cell work — from buying separate microscopes to even setting up labs in different buildings — won't have that expensive hurdle anymore.

Next, scientists can start applying for research grants from the National Institutes of Health. The NIH already has begun writing guidelines that, among other things, are expected to demand that the cells being used were derived with proper informed consent from the woman or couple who donated the original embryo.

Call To Arms

I often wonder about the readership of this blog and if there are any readers at all. To those who peruse regularly and even to those who stumble upon this site by accident, I would like to call your attention to two important events concerning MJD.

Firstly, the National Ataxia Foundation 52nd Annual Membership Meeting will be held next month in Seattle from March 20th to March 22nd. Richard and I attended last year's meeting in Las Vegas and came away learning so much. Needless to say, Richard will not be missing this for the world! It is not too late to register. You can even do that online!

Secondly, we just received Dr. S. H. Subramony's questionnaires in the mail today. Dr. Subramony of University of Texas, who is a renown expert of SCA diseases, is currently conducting a study on MJDers. Those who have registered with the Cooperative Ataxia Registry should have been contacted already to participate in this study. If that is not the case and/or if you would like to find out if Dr. Subramony is still enrolling for this study, please contact him at:

S H Subramony MD

Professor of Neurology

University of Texas Medical Branch

301 University Blvd

Galveston TX 77555

Office 409 772 2646

Fax 409 772 6940

E-mail: shsubram@utmb.edu

The glimmer at the end of the tunnel

To paraphrase Newton's law of inertia, a blogger persists in a state of rest unless acted upon by an external force (of will power). I have been rather negligent in passing along to the few who read or happen to come across this blog the latest in MJD research.

Here are some very encouraging news from the scientific front-lines, thanks to the MJD Family Board for sharing the information:

RNAi has potential for use in MJD treatment and constitute the first proof-of-principle for allele-specific silencing in the central nervous system

More about the aforementioned research

CATENA^® : a new drug approved for the symptomatic management of patients with Friedreich’s Ataxia which may be beneficial in treating MJD

and lastly

Geron Receives FDA Clearance To Begin World's First Human Clinical Trial Of Embryonic Stem Cell-Based Therapy

On the home front, Richard's hard work at his twice weekly PT is paying off. Today, he was able to go from a sitting position to standing upright unassisted three consecutive times without fumbling or tottering. His movements when using the walker are steadier and more fluid. Small steps but important steps which is all that we are asking for.

The Curious Case of the Naked Man on the Floor

I've decided to begin the new year with a more light-hearted post. A few days ago, while researching the latest on stem cells on the web, I came across a set of articles (1, 2, 3)from the Charleston Post and Courier about a patient who was at Nanshan Hospital around the same time as we were.

Upon reading the article, I realized that the gentleman in the articles was the same person that I described in my post dated March 27, 2007. These news articles helped me understand better his experience in China. While the hospital staff and the reporter each painted a different picture of this patient's personality and deeds, I am sure that he meant to do no harm. Furthermore, I empathize with his desire and need to do everything within his power to get better.

The famous movie producer, Robert Evans, once said, "There are three sides to every story. Your side, my side and the truth. And no one is lying." I couldn't have put it better myself.

It was the best of times, it was the worst of times

2008 has been a momentous year so far, filled with both memorable celebrations and challenges that we'd rather do without.

Richard and I celebrated our 25th wedding anniversary and half century birthdays. We also reunited with family members who we have not seen for some time and participated in Richard's mother's 80th birthday bash in New York.

However, our mothers' health problems continue to plague them. Richard also had his share of health issues in the past few months. There were falls and accidents that resulted in trips to the emergency room. The numerous stitches on his face has given him a "tough guy" aura.

Looking beyond our immediate family, we now have a charismatic African-American president-elect who is poised to bring much needed change to the nation. However, the economy has plunged into unprecedented chaos that threatens the livelihood of every global citizen.

It is hard to remain positive in these difficult times. I take comfort in Nietzche's quote of "that does not kill us makes us stronger".