Research Funding Recipients
Active Against ALS donates funds to research labs that use the money directly and immediately. The Board of Directors regularly receives guidance from their Scientific Advisory Board and current research funding recipients to select critical research projects and allocate funds. This ensures that your contributions directly support the most advanced and progressive ALS research. Recipients of our donations to ALS research are described below:
2022 Robert F. Schoeni Award for Research
Determining the functional consequences of the chimeric YAF2-RYBP fusion gene in amyotrophic lateral sclerosis.
Tiziana Petrozziello, PhD
Instructor in Neurology, Harvard Medical School
Sean M. Healey & AMG Center for ALS at Mass General Hospital
Dr. Tiziana Petrozziello is an Instructor in Neurology in Dr. Sadri-Vakili’s laboratory at Sean M. Healey & AMG Center for ALS at Mass General Hospital in Boston. Her research is focused on unraveling the molecular mechanisms underlying neurodegeneration and neuroinflammation in
ALS. She has recently demonstrated how alterations tau phosphorylation led to mitochondrial dysfunction and fragmentation in ALS using patient brain samples and biofluids, and how targeting these dysregulated pathways could provide a novel therapeutic approach for the treatment of ALS. Currently, she is working on identifying gene fusion events in ALS in order to determine whether these events may serve as biomarkers and whether they cause motor neuron degeneration in ALS.
Dr. Petrozziello obtained her PhD in Neuroscience at the University of Naples “Federico II” (Naples, Italy) focusing on a novel neuromodulatory role of SOD1 in ALS. Following completion of her PhD, she began a post-doctoral fellowship in Dr. Annunziato’s laboratory in the Department
of Neuroscience at University of Naples “Federico II”, where her studies focused on ionic homeostasis imbalance in ALS. In 2019 she joined Dr. Sadri-Vakili’s laboratory at Massachusetts General Hospital. She was the recipient of the Judith and Jean Pape Adams Charitable Foundation
and Byrne Family Endowed Fellowship in ALS Research in 2020.
2019 Suzanne Hiyama Ross Award for Research
Bypassing Stress in ALS
Peter Todd, MD, PhD
Bucky and Patti Harris Professor of Neurology
Associate Professor, Neurology
Staff Physician, Ann Arbor VA Medical Center
University of Michigan
Peter came to Michigan in 2008 as a fellow in neurogenetics and movement disorders in the laboratory of Henry L. Paulson, M.D., Ph.D. He joined the neurology faculty in 2010 and was promoted to associate professor with tenure in 2016. As a clinician scientist, Dr. Todd sees patients with inherited neurological and neurodegenerative disorders at the University of Michigan and at the VA medical center in Ann Arbor. He also directs the Clinical Neurogenetics Research Program for patients with inherited neurological disorders.
Dr. Todd’s research lab studies how repetitive sequences in DNA become mutated and cause neurodegenerative disease. One such repeat is the most common known cause of ALS, explaining 10% of the cases in the U-M ALS clinic. The Todd lab discovered that these repeats elicit stress in cells and found that this stress enhances production of toxic proteins in neurons. This award will explore whether interrupting these cell stress pathways can suppress repeat toxicity.
On a personal note, Dr. Todd is excited to be supported by A2A3 and become a more active member of this vibrant local community group.
2019 Robert F. Schoeni Award for Research
A Novel Repeat Expansion that Bridges Genes Implicated in Amyotrophic Lateral Sclerosis
Paul Valdmanis, PhD
Assistant Professor Medical Genetics
University of Washington
Dr. Valdmanis received his PhD from McGill University in the Department of Human Genetics where he contributed to the identification of pathogenic variants in genes that are responsible for Amyotrophic Lateral Sclerosis, starting with one of the first reports of variants in TDP-43. His postdoctoral research, conducted at Stanford University, focused on gene therapy techniques to suppress target genes in a safe and effective manner.
Paul recently established his own independent laboratory in the Division of Medical Genetics at the University of Washington School of Medicine. There, he is combining his interests in the genetic contributions to Amyotrophic Lateral Sclerosis along with gene therapy approaches for therapeutic intervention. His lab uses state-of-the-art sequencing approaches to illuminate previously hidden regions of the human genome to better understand genetic variability in these regions.
Dr. Barmada is leading exciting work toward options for treatment of ALS by determining why motor neurons are a target of ALS and how the disease spreads from neuron to neuron. We contributed specifically to an effort in Dr. Barmada’s lab to evaluate selective inhibitors of nuclear export, and to investigate a protein that has shown promise in preclinical neuronal and animal models of ALS. Dr. Barmada’s work incorporates motor-neuron derived stem cells and an innovative tool designed specifically to measure neuronal function in cell plates. Through this work, Dr. Barmada’s goal is to develop targeted treatments that prevent the death of motor neurons in ALS, therby stopping the spread of disease once it has begun.
ALS TDI is a nonprofit biotechnology company started in 1998 by James Heywood when his 29-year old brother Stephen was diagnosed with ALS. Started in the basement of Jamie’s parents, ALS TDI has grown into the world’s largest research and development program focused exclusively on ALS. Thirty leading scientists and technicians work in a state-of-the-art laboratory in Cambridge, Massachusetts. They run an open research program, sharing their research findings on a daily basis via the web with patients, doctors and the research community. Their goal is to put themselves out of business as soon as possible by finding – or helping others to find – a treatment and cure for ALS.
University of Michigan’s Program for Neurology Research and Discovery
University of Michigan doctor testing stem cell treatment for ALS
Eva Feldman, M.D., Ph.D., has been treating patients with ALS and hunting for a cure for this terrible disease her entire medical career. She knows the heartache of having to tell patients and their loved ones that no effective treatment exists for this devastating condition.
Now, there may finally be hope.
Dr. Feldman is currently leading the first human clinical trial of a stem cell treatment for ALS. This potential breakthrough is the product of years of painstaking laboratory study and represents the first time that stem cells have been injected into the human spinal cord.
“I have seen hundreds of patients with ALS over the past 20 years, says Dr. Feldman. “Until now, I could not offer them much in the way of hope. Now, for the first time I can. That is a wonderful thing.”
The trial is still in Phase 1, which tests the safety of the procedure. So far, 15 ALS patients have undergone this revolutionary therapy, with no serious side effects. Most received injections in the lumbar, or lower, area of the spine.
Two of the patients have received a second injection of stem cells, for a total of 17 surgeries. The Food and Drug Administration approved this re-dosing for a total of three patients, all of whom will receive their second implantations in the cervical, or upper, region of the spine, where the nerves that control breathing reside.
Feldman hopes to begin Phase 2 of the trial, which begins to evaluate the effectiveness of the treatment, within two years.
Creating specialized stem cells
At the same time, her team of scientists is working to improve the ability of the stem cells to deliver life-preserving proteins to the nerve cells under attack in ALS by creating a line of cells with enhanced levels of IGF-I, a growth factor. They are also adapting this stem cell model to the treatment of other nerve disorders, including Alzheimer’s disease.
In addition, they are working to establish induced pluripotent stem cell lines from the skin cells of ALS patients. Among other potential uses, at some point in the future they may be injected back into the spinal cords of the donor patients, in the procedure Dr. Feldman is currently pioneering. The patients won’t need to undergo immuno-suppressant therapy since these cells come from their own tissue.
Exploring the causes of ALS
Dr. Feldman is exploring another new frontier of science, studying the role of epigenetics in the origins of ALS. She believes that environmental toxins may produce epigenetic modifications – factors that cause genes to express themselves in nonstandard ways – that may give rise to the onset of the disease in certain cases. Her laboratory has discovered distinct epigenetic signatures in postmortem tissues from the spinal cords of ALS patients.
Her team is working with physicians across the state to conduct environmental exposure surveys of ALS patients throughout Michigan. These same patients are donating blood for the identification of epigenetic signatures that correlate with their environmental exposures. This research has the possibility to revolutionize our scientific and clinical approach to ALS by providing new insights into the origins of ALS, new potential treatments and new biomarkers that will help doctors diagnose the disease earlier.
The Robert Packard Center for ALS Research at Johns Hopkins
Since its founding in 2000, the Robert Packard Center for ALS Research at Johns Hopkins has remained the only international scientific operation dedicated solely to curing ALS, a motor neuron disease also known as Lou Gehrig’s Disease. Under the direction of its director, Dr. Jeffrey Rothstein, Packard’s approach is unique in that they combine real scientific collaboration and research with fundraising for the development of new treatments. Through genius, courage and action, the Packard Center is bringing hope to ALS patients and families.
The Packard Center funds highly innovative scientific research – we focus on innovation, collaboration and results.
- Packard investigators are chosen after a highly selective, invitation-only grant process.
- Each investigator and grant is closely monitored to ensure compliance and reporting is completed on a timely basis.
- Investigators are held to a high-standard and are required to monthly meetings throughout the year. These meetings are required brainstorming sessions where grantees, advisors and colleagues share ideas and critique one another’s work.
- Each spring, the Center’s annual symposium provides an opportunity to bring all of the investigators together to share their research summaries and listen to guest lectures.
To date, the Packard Center has awarded more than $23 million in research grants, two-thirds of which have funded projects at institutions outside of Johns Hopkins.
Ozdinler Laboratory at Northwestern University
Dr. Hande Ozdinler focuses on the cortical component of ALS and investigates both intrinsic and extrinsic factors that are responsible for selective motor neuron vulnerability and degeneration. The Laboratory has recently developed novel tools to study the biology of corticospinal motor neurons with respect to disease progression, and developed new gene delivery approaches, which selectively target only the neurons of interest in the cerebral cortex. The goals of ongoing collaborative efforts are to develop effective and long-term treatment strategies for ALS by revealing early detection markers using pure populations of motor neurons that are affected, by identifying small molecules/compounds that selectively enhance motor neuron survival, and by developing cell-based therapeutic strategies in vivo.