The National Institutes of Health (NIH) has released funding information for 218 areas during the 2009 fiscal year. The table titled, “Estimates of Funding for Various Diseases, Conditions, and Research Areas,” shows the total funds spent in each category based on grants, contracts, and research conducted in the NIH’s own laboratories and clinics. The 218 categories included in the chart represent diseases, conditions, and research areas historically requested by and reported to Congress and the public at the end of each fiscal year. The NIH website specified that this “does not reflect the entire NIH research portfolio and budget,” that is does not “impact the way the NIH funds research or determines its research priorities”, and “does not change the way the NIH makes awards throughout the year for medical research.”

According to the chart, NIH spent $14 million on spinal muscular atrophy (SMA) research in fiscal year 2009, thanks in part to funding provided by the American Recovery & Reinvestment Act. The chart also estimates that SMA will remain at that funding level in fiscal year 2010.

Click here to view the entire “Estimates of Funding for Various Diseases, Conditions, and Research Areas” table.

From the FDA’s Office of Orphan Products Development and NIH’s Office of Rare Diseases Research:

The Office of Rare Diseases Research at the US National Institutes of Health (NIH), and the Office of Orphan Products Development at the US Food and Drug Administration (FDA), are pleased to announce the 2010 edition of their collaboratively developed course, “The Science of Small Clinical Trials.” This is a broad survey course (not a high-level statistical seminar), which is intended to heighten awareness of the methods that exist to design and analyze clinical trials using small numbers of participants. An inescapable necessity when dealing with rare diseases, the use of small trials is also rising in prominence in the context of tissue transplantation, advanced prosthetics, and individualized pharmacogenomics.

The first edition of the course, offered in 2009, was restricted to FDA and NIH staff. The 2010 edition of the course has been revised (based upon comments from 2009 participants), and is now open to ANYONE who wishes to register. The course comprises 7 2-hour lectures, presented at the Lister Hill Center Auditorium on the NIH campus in Bethesda, MD, from 16 February through 8 March, 2010; the lectures will also be available online via the Internet, live and by delayed on-demand video streaming (using freely available RealPlayer software), allowing anyone with a good Internet connection and appropriate computer to participate (questions from remote attendees will be received via a live text chat room, or via a discussion forum, on a web site dedicated to the course).

ALL participants must register. An optional self-administered open-book On- line examination will be provided at the end of the course, and individuals who pass this examination will receive a certificate from FDA’s Office of Orphan Products Development.

For more information about the course, and online registration, visit: http://small-trials.keenminds.org.

According to the course’s website, “the target audience is professionals interested in drug/device evaluation and regulatory affairs.” Currently, on-site attendance is full, so those wishing to participate must via the internet.

Today, Friday, January 22nd, is the last day to cast your vote in support of Spinal Muscular Atrophy research in the Chase Community Giving campaign on Facebook.

The charity that receives the most votes will win the top prize of $1 Million and five runners-up will get $100,000 each. The Gwendolyn Strong Foundation (GSF) is trying hard to hold on to 6th place - a $100,000 eligible position.

GSF has pledge to give 100% to SMA awareness and research deemed most promising by the SMA community. Within 90 days after winning the Chase Community Giving prize, GSF will execute a unique online voting campaign and distribute all funds to the winning programs recommended by prominent and committed SMA scientists and voted most important by the SMA community. Thanks to the first round of voting, the Gwendolyn Strong Foundation (GSF) won $25,000 which has already been distributed to research.

You can only vote for the GSF once, so in order for SMA to have a chance at this critical funding, we need you to not only vote on Facebook, but get your friends and family involved as well.

Go to http://VoteForSMA.com to vote and to learn more.

Thanks to previous votes, the Gwendolyn Strong Foundation (GSF) won $25,000 for Spinal Muscular Atrophy (SMA) research in the Chase Community Giving campaign on Facebook. Now, for only one week from January 15th to January 22nd, SMA has an opportunity to win much, much more!

The charity that receives the most votes will win the top prize of $1 Million and five runners-up will get $100,000 each. GSF has pledge to give 100% to SMA awareness and research deemed most promising by the SMA community. Within 90 days after winning the Chase Community Giving prize, GSF will execute a unique online voting campaign and distribute all funds to the winning programs recommended by prominent and committed SMA scientists and voted most important by the SMA community. You can only vote for the Gwendolyn Strong Foundation once, so in order for SMA to have a chance at this critical funding, we need you to not only vote on Facebook, but get your friends and family involved as well. Go to http://VoteForSMA.com to vote and to learn more.

This request comes from Bill and Victoria Strong of the Gwendolyn Strong Foundation and Neda Zadeh, M.D., Medical Genetics Fellow at Stanford University. They are reaching out to mothers of children with spinal muscular atrophy to ask if they would participate in a study that “may help pave the way for SMA carrier screening to be offered to more women.”

From: Neda Zadeh, M.D. — To the Claire Altman Heine Foundation:

You are invited to participate in a research study on the possible association between Nuchal Translucency (NT) measurement and fetuses affected with Spinal Muscular Atrophy (SMA). Our goal is to determine whether there is an association between increased NT measurements and SMA. If so, diagnostic testing for SMA may be offered to women with increased NT and no evidence of a chromosome abnormality of the fetus. We are only recruiting mothers of children confirmed to have SMA by molecular testing.

Involvement in this study is entirely voluntary and confidential. It will require your permission to access particular medical records for both you and your child. Your participation will not involve invasive procedures such as blood draw or tissue sampling. There will be no monetary compensation for your participation.

If you are interested in participating, or would like to hear more about this study, please contact me at (650)721-1439.

Sincerely

Neda Zadeh, M.D.
Medical Genetics Fellow
Stanford University
Division of Medical Genetics

From the Washington Post:

NIH authorizes use of first human embryonic stem cells under new policy

By Rob Stein
Washington Post Staff Writer
Wednesday, December 2, 2009; 1:01 PM

The Obama administration on Wednesday approved the first human embryonic stem cells for experiments by federally funded scientists under a new policy designed to dramatically expand government support for one of the most promising but also most contentious fields of biomedical research.

The National Institutes of Health authorized 11 lines of cells produced by scientists at the Children’s Hospital in Boston and two lines created by researchers at the Rockefeller University in New York. All were obtained from embryos left over by couples seeking treatment for infertility.

“This is a real change in the landscape,” NIH Director Francis Collins said. “This is the first down payment on what is going to be a much longer list . . . that will empower the scientific community to explore the potential of embryonic stem cell research.”

According to Johns Hopkins University Associate Professor of Neurology, Molecular Microbiology and Immunology, Dr. Douglas Kerr, author of multiple papers about embryonic stem cells and friend of FightSMA, “this is a significant event since it has really increased the number of embryonic stem cell lines available for researchers to study in understanding and ultimately treating human diseases.” He goes on to say, “It’s even more significant since the previously approved embryonic stem cell lines had a variety of problems including chromosomal abnormalities and culture conditions that would make them potentially unsafe in humans. These new ES lines don’t have those problems and this promises to advance research forward.”

To read the complete Washington Post article, click here.

To read the press release issued by NIH, click here.

From the press release by Cold Spring Harbor Laboratory:

November 4, 2009

Researchers identify drug candidate for treating spinal muscular atrophy

Cold Spring Harbor, N.Y. – A chemical cousin of the common antibiotic tetracycline might be useful in treating spinal muscular atrophy (SMA), a currently incurable disease that is the leading genetic cause of death in infants. This is the finding of a research collaboration involving Adrian Krainer, Ph.D., of Cold Spring Harbor Laboratory (CSHL) and scientists from Paratek Pharmaceuticals and Rosalind Franklin University of Medicine and Science.

SMA is caused by mutations in a gene called Survival of Motor Neuron 1 (SMN1), resulting in a decrease in the levels of SMN protein in the motor neurons of the spinal cord – the cells that control muscle activity. Without the protein, these neurons degenerate, and infants born with the mutations progressively lose the ability to move, swallow, and breathe. There are no approved therapies for the treatment of SMA, which affects approximately 1 in 6,000 babies born in the United States.

The new molecule boosts the levels of SMN protein in cells by fixing a mistake in a cellular processing mechanism called RNA splicing. In a study that will appear in the journal Science Translational Medicine on November 4th, the scientists report this fix in both mouse models of SMA, as well as in cells isolated from SMA patients.

Unlike previously identified molecules that stimulate SMN production, the tetracycline-like compound is a unique therapeutic candidate in that it is a small molecule that specifically alters RNA splicing by directly targeting the splicing reaction.

To read the full press release, click here.

To read the abstract of the study, click here.

Dr. Adrian Krainer is a friend of FightSMA and a regular speaker at FightSMA’s Annual Conference. At the 2009 FightSMA Annual Conference, he spoke on subject of splicing and SMA.

By Dr. Alex MacKenzie, Co-Chair of FightSMA’s Scientific Advisory Committee

It is with sadness we note the passing of Dr. Hung Li earlier this year. Dr. Li’s laboratory at Academia Sinica in Taiwan made a number of important and novel observations in the study of spinal muscular atrophy, all the more impressive given his was at a center with no prior record in SMA research. Dr. Li reported the first genetically and pathologically faithful murine model of severe SMA as well as the first report of treatment of these mice with an SMN2 inducing agent, butyrate. Latterly, he made the novel observation of a role for STAT5 kinase activation in the induction of SMN2, one of the first delineations of a mechanism of induction for this locus. As well he explored the role of apoptosis in SMA and reported on Valproate therapy in a small patient cohort.

In addition to his important SMA legacy, Dr. Li published widely on other issues including renal disease and novel therapies for stroke; clearly his was fertile and creative scientific mind. He was a quiet, kindly individual who reached out to a number of us with an invitation to Taiwan to visit his laboratory a number of years ago. A true pioneer in SMA research, he will be missed.

From the National Institutes of Health:

Under the Recovery Act, the NIH has established a new program entitled Research and Research Infrastructure “Grand Opportunities” hereafter called the ”GO” grants program.This new program will support projects that address large, specific biomedical and biobehavioral research endeavors that will benefit from significant 2-year funds without the expectation of continued NIH funding beyond two years.  The research supported by the ”GO” grants program should have high short-term impact, and a high likelihood of enabling growth and investment in biomedical research and development, public health, and health care delivery.

Approximately $200 million dollars will be committed to projects resulting from this request and “only applications with budgets greater than $500,000 total costs per year for a project period of two years are expected to be considered.” This request for applications is expected to be very competitive, but it is also seen as a huge opportunity that is too important for the SMA research community to pass up.

The opening date is April 27th and the application deadline is May 27th. For more information, click here.

A team led by University of Wisconsin-Madison researcher and 2006 FightSMA Annual Conference presenter Dr. Clive Svendsen has shown that they can create a model of spinal muscular atrophy (SMA) in a petri dish.

Building on research previously reported which allows scientists to force skin cells to act like embryonic stem cells, the team used skin cells from a boy with SMA to create SMA affected motor neurons in the laboratory. Because these motor neurons are outside of a patient, researchers expect to be able to observe the rate of motor neuron death and test interventions much easier and safer.

The team’s findings have been published by the journal Nature. The article is “Induced pluripotent stem cells from a spinal muscular atrophy patient” by Allison D. Ebert, Junying Yu, Ferrill F. Rose, Jr., Virginia B. Mattis, Christian L. Lorson, James A. Thomson and Clive N. Svendsen.

For more information, click here to read one of the many news articles on this breakthrough.