Check out Dr. Bedlacks latest update! This was my dad’s doctor :)

2014 Kick off Research Update with Dr. Richard Bedlack:

ALS Ice Bucket Challenge has raised 94.3 million so far in one month!

Ice Bucket Donations Continue to Rise: $94.3 Million Since July 29

Washington, D.C. (August 27, 2014) — As of Wednesday, August 27, The ALS Association has received $94.3 million in donations compared to $2.7 million during the same time period last year (July 29 to August 27). These donations have come from existing donors and 2.1 million new donors. The ALS Association is tremendously thankful for all of the generous support and awareness that this summer phenomenon has generated for the cause.

“The ALS Association has been given a great deal of money and with that comes tremendous responsibility,” said Barbara Newhouse, President and CEO of The ALS Association. “We are absolutely committed to transparency and will be communicating regularly with the ALS community, our donors, the media and the public about progress to invest these dollars wisely in areas that will have maximum impact on the fight against this devastating disease.”

The ALS Association’s mission includes providing care services to assist people with ALS and their families through a network of chapters working in communities across the nation and a global research program focused on the discovery of treatments and eventually a cure for the disease. In addition, The Association’s advocacy efforts empower people to advance public policies in our nation’s Capital that respond to the needs of people with ALS.

For inquiries regarding the use of these funds or other information about the Ice Bucket Challenge, please email inquiries@alsa-national.org.

About The ALS Association
The ALS Association is the only national non-profit organization fighting Lou Gehrig’s Disease on every front. By leading the way in global research, providing assistance for people with ALS through a nationwide network of chapters, coordinating multidisciplinary care through Certified Treatment Centers of Excellence, and fostering government partnerships, The Association builds hope and enhances quality of life while aggressively searching for new treatments and a cure. For more information about The ALS Association, visit our website at http://www.alsa.org.

Don Steffen 5th Annual Charity Golf Tournament to raise awarness and funds to find a cure for ALS!

Thank you to everyone that attended, participated in, and or donated to the 5th annual Don Steffen Charity Golf Tournament to raise awareness and funds to find a cure for ALS!

We had a very successful tournament and are in the process of tallying up all of the donations to get our final figures of donations raised to help assist in finding a cure!

Stay tuned…

Thank you sincerely from the Steffens!

New ALS Research at the American Academy of Neurology

New ALS Research at the American Academy of Neurology
May 22, 2014

Important advances in ALS were featured at the Annual Meeting of the American Academy of Neurology (AAN), held in April. Among the highlights:

Presymptomatic Imaging Changes in SOD1 Gene Carriers

A neuroimaging study revealed that people carrying the ALS-causing mutant SOD1 gene have subtle structural changes in the brain’s white matter years before likely disease onset. White matter refers to the axons, or insulated extensions of neurons, that carry information from one brain region to another. By comparing images between gene carriers and non-carriers, the researchers found changes affecting the right temporal lobe, a region on the brain’s surface near the ear. Surprisingly, this region is not involved in motor functions, as might be expected in a motor neuron disease such as ALS. The significance of these changes is not yet clear, but they suggest that the ALS disease process, at least in those carrying the SOD1 gene, may begin long before symptoms become apparent. The ability to detect such changes will be important for beginning treatment as early as possible, once a disease-modifying therapy is developed.

New ALS Risk Gene Points to Neuroinflammation

A variant in a gene that promotes inflammation in the central nervous system more than doubles the risk for ALS, according to new research. The gene, called TREM2, activates microglia, immune system cells in the brain and spinal cord. The variant, which causes a switch of one amino acid in the TREM2 protein, has been associated with an increased risk of Alzheimer’s disease. Here, the authors sequenced the gene in almost 1,000 people with ALS and 2,000 controls. They found that the variant was 2.4 times as common in those with ALS versus controls, and that there was more TREM2 protein than expected in the spinal cord of those with ALS and in SOD1 mutant mice, suggesting that dysregulation of the gene contributes to disease. An increase in inflammation may accelerate the disease process.

C9orf72 Expansion Binds Multiple RNA Binding Proteins, Alter RNA Splicing

The mutant expanded portion of the C9orf72 gene binds to more than 100 proteins, according to new research. The authors found that among the proteins that were bound by the expansion were many involved in RNA splicing, the process that edits the “working copy” of a gene before making protein from it. Altered splicing is thought to play a role in ALS. They also found that some of these splicing proteins were mislocalized in tissue from people with ALS. These results suggest that the gene mutation causes ALS at least in part by significantly altering the splicing process. This may lead to better understanding of the disease process and identification of new targets based on correction of splicing abnormalities.

New Results from the National ALS Registry

In 2010, with critical advocacy support from The ALS Association, the federal Agency for Toxic Substances and Disease Registry (ATSDR) launched the National ALS Registry. The purposes of the ALS Registry are to: identify ALS cases nationwide; increase understanding of what causes ALS; identify the incidence, prevalence, and distribution of the disease; improve diagnosis and clinical care; and ultimately help to find a treatment for the disease.

The ALS Registry combines data from existing national databases, such as those from the Department of Veterans Affairs and the Medicare and Medicaid programs, with self-reported data from people with ALS. Ten studies connected to the ALS Registry were featured in poster sessions at the meeting. Results presented included:

•About 20 percent of neurologists nationwide diagnosed or cared for a person with ALS in the past three years.
•Most people with ALS receive care at a large metropolitan specialty center.
•Accuracy of diagnosis by general neurologists was close to that of ALS specialists.
•There are approximately 5,000 new cases of ALS diagnosed in the U.S. every year.
The Registry will continue to provide important data for ALS research including for tracking ALS in the US over time, for better understanding regional patterns of disease that may be linked to environmental or occupational risks and for identifying risk factors for the disease.

Latest Data on Tirasemtiv Indicates Promise, Problems

As detailed in the report from the Drug Company Working Group meeting, the recent trial of tirasemtiv showed that prolonged treatment at high doses improved muscle strength and some measures of breathing but did not improve overall function as measured by the ALS Functional Rating Scale. More data analysis is ongoing to better understand the results of this trial and to determine how to proceed with development of the drug.

Essey Award Session Features Latest and Previous Recipients
As further detailed in this article, Jeremy Shefner, M.D., Ph.D., received the 2014 Sheila Essey Award from The ALS Association and the American Academy of Neurology, for a career dedicated to ALS clinical research. The session featured a talk by Dr. Shefner on the development of biomarkers for tracking disease progression and response to therapy, as well as some of the latest research on ALS. It concluded with a whirlwind round of presentations from many of the past recipients of the Award, outlining progress on many fronts in the struggle to understand and treat ALS.

Related News
Moving Forward on Biomarker Development to Speed Clinical Trials
May 29, 2014

ALS Researchers Uncover New Insights Into Motor Neuron Death in Lou Gehrig’s Disease

ALS Researchers Uncover New Insights Into Motor Neuron Death in Lou Gehrig’s Disease
Posted by: Susan Ardizzoni March 31, 2014

Current research at The Institute at Nationwide Children’s Hospital has revealed information about a key player in motor neuron death in Amyotrophic lateral sclerosis (ALS) otherwise known as Lou Gehrig’s disease. The researchers believe this to be a key step in developing a treatment.

ALS involves a cascade of cellular and inflammatory events that weakens and kill motor neurons in the brain and spinal column. The motor neuron destruction is a complex process that involves cells that normally protect neurons from harm. These motor neurons control the function of muscles throughout the body. As the motor neurons die, muscles begin to weaken. Individuals with ALS eventually lose their ability to move, and with further progression they are unable to breathe on their own. Within 3 to 5 years of onset, most ALS patients die from respiratory failure.

Researchers took a look at a protein that is involved in transcriptional regulation known as nuclear factor-kappa B (NF-κB). This protein is involved with the neuro-inflammatory response that is common in ALS, and it has also been linked to cancer and a number of other inflammatory and autoimmune diseases.

The study examined ALS progression in mice where NF-κB was inhibited in astrocytes and microglia. These two cell types are the first and main form of defense against pathogens in the brain and spinal column. According to Brian Kaspar, MD, a principal investigator in the Center for Gene Therapy at Nationwide Children’s and senior author of the new study, inhibiting NF-κB in microglia decreased ALS progression by 47 percent. “ The field has identified different cell types in addition to motor neurons involved in this disease, so one of our approaches was to find out what weapons these cells might be using to kill motor neurons. And our findings suggest that the microglia utilize an NF-κB-mediated inflammatory response as one of its weapons.”

Researchers report that inhibiting NF-κB in astrocytes had no effect on ALS progression so the search for weapons that astrocytes use against motor neurons still continues. How or why NF-κB causes microglia to turn into neuron-killing agents still remains a mystery, however the current study moves researchers closer to finding therapy for ALS.

Current research at The Institute at Nationwide Children’s Hospital has revealed information about a key player in motor neuron death in Amyotrophic lateral sclerosis (ALS) otherwise known as Lou Gehrig’s disease. The researchers believe this to be a key step in developing a treatment.

ALS involves a cascade of cellular and inflammatory events that weakens and kill motor neurons in the brain and spinal column. The motor neuron destruction is a complex process that involves cells that normally protect neurons from harm. These motor neurons control the function of muscles throughout the body. As the motor neurons die, muscles begin to weaken. Individuals with ALS eventually lose their ability to move, and with further progression they are unable to breathe on their own. Within 3 to 5 years of onset, most ALS patients die from respiratory failure.

Researchers took a look at a protein that is involved in transcriptional regulation known as nuclear factor-kappa B (NF-κB). This protein is involved with the neuro-inflammatory response that is common in ALS, and it has also been linked to cancer and a number of other inflammatory and autoimmune diseases.

The study examined ALS progression in mice where NF-κB was inhibited in astrocytes and microglia. These two cell types are the first and main form of defense against pathogens in the brain and spinal column. According to Brian Kaspar, MD, a principal investigator in the Center for Gene Therapy at Nationwide Children’s and senior author of the new study, inhibiting NF-κB in microglia decreased ALS progression by 47 percent. “ The field has identified different cell types in addition to motor neurons involved in this disease, so one of our approaches was to find out what weapons these cells might be using to kill motor neurons. And our findings suggest that the microglia utilize an NF-κB-mediated inflammatory response as one of its weapons.”

Researchers report that inhibiting NF-κB in astrocytes had no effect on ALS progression so the search for weapons that astrocytes use against motor neurons still continues. How or why NF-κB causes microglia to turn into neuron-killing agents still remains a mystery, however the current study moves researchers closer to finding therapy for ALS.

Current ALS research is focused in two directions. One path is trying to determine the trigger that leads to ALS onset. The other path is trying to understand the process that leads to ALS progression. It is known that changes in motor neurons leads to ALS onset, however disease progression appears to be determined by alterations to astrocytes, microglia and oligodendrocytes. Most cases of ALS have no family ties to the disease, however some cases are hereditary. Due to the complexity of ALS and the lack of familiar tie, screening before onset is practically impossible.

According to Kaspar, “Focusing on stopping the changes that occur in astrocytes and microglia has clinical relevance because most people don’t know they’re getting ALS. We have identified a pathway in microglia that may be targeted to ultimately slow disease progression in ALS and are exploring potential therapeutic strategies and may have broader implications for diseases such as Alzheimer’s and Parkinson’s Disease amongst others.”

New Technique Generates ALS-Derived Muscle for study…

New Technique Generates ALS-Derived Muscle for Study

Washington, D.C. (March 25, 2014) — In work supported by The ALS Association, scientists have developed a new method for generating muscle cells from skin tissue of people with ALS, which will be valuable for research. The study was published in the journal Stem Cells Translational Medicine.
ALS (amyotrophic lateral sclerosis), also known as Lou Gehrig’s Disease, is a progressive neurodegenerative disease that affects neurons (nerve cells) in the brain and the spinal cord. Eventually, people with ALS lose the ability to initiate and control muscle movement, which often leads to total paralysis and death within two to five years of diagnosis. There is no cure and no life-prolonging treatments for the disease.

The scientific team was led by Masatoshi Suzuki, Ph.D., D.V.M., of the University of Wisconsin at Madison, and included Allison Ebert, Ph.D., of the Medical College of Wisconsin. Their work was supported by the Wisconsin Chapter of The ALS Association.

The researchers showed that muscle progenitor cells could be efficiently produced from stem cells in cell culture, using a new combination of growth factors. The method works with either human embryonic stem cells or induced pluripotent stem cells (iPS cells), which are derived from skin cells. In the study, the researchers transformed iPS cells from two different people with familial forms of ALS, one caused by mutations in the SOD1 gene and the other by mutations in the VAPB gene.
“The ability to generate muscle cells from ALS-related tissue is important, because we need to understand more about the role of muscle in the disease process,” said Lucie Bruijn, Ph.D., MBA, Chief Scientist for The Association. “We know an early step in ALS is loss of contact between muscle and motor neuron. This system should allow us to determine more about that important step and determine whether, if we can delay it, we can prolong both neuron health and muscle function.”

About The ALS Association
The ALS Association is the only national non-profit organization fighting Lou Gehrig’s Disease on every front. By leading the way in global research, providing assistance for people with ALS through a nationwide network of chapters, coordinating multidisciplinary care through certified clinical care centers, and fostering government partnerships, The Association builds hope and enhances quality of life while aggressively searching for new treatments and a cure. For more information about The ALS Association, visit our website at http://www.alsa.org.

Wishing you all love, light, and blessings…

Hi Everyone,

We wanted to reach out and say a quick hello to all. We appreciate all of your continued support as crusaders of ALS regarding research, getting the word out about ALS, and ultimately helping us raise awareness and funds to find a cure for ALS once and for all! We will be continuing our Steffen Crusade in honor of my father Don Steffen and will keep you all up to speed with the different things we are doing.

Stay tuned in! We are already in planning stages for the next Don Steffen Annual Charity Golf Tournament for ALS.

All the best,

The Steffens

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