Grant - Summer 2015 - DMD - Dada Pisconti, Ph.D.
Dada Pisconti, at the University of Liverpool, United Kingdom, was awarded an MDA research grant totaling $300,000 over three years to study how the environment established by fibrosis and inflammation affects the maintenance and regenerative properties of muscle stem cells in Duchenne muscular dystrophy (DMD). Pisconti will work to determine whether serine protease inhibitor proteins are involved in the DMD disease process. If successful, these studies could lead to a fast development opportunity for therapy, because drugs targeting serine protease activity exist and might be rapidly repurposed.
Funding for this MDA research grant began Aug. 1, 2015.
Grantee: DMD - Dada Pisconti, Ph.D.
Grant type: Research Grant
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Grant - Summer 2015 - DD - Aikaterini Kontrogianni-Konstantopoulos, Ph.D.
Aikaterini Kontrogianni-Konstantopoulos, an associate professor in the department of biochemistry and molecular biology at the University of Maryland School of Medicine in Baltimore, was awarded an MDA research grant totaling $300,000 over three years to study how the Myosin Binding Protein-C family of proteins may regulate contractile function of skeletal muscle in distal muscular dystrophy (DD). Kontrogianni-Konstantopoulos’ work will shed light on how mutations in this protein lead to disease and may have clinical relevance not only for distal arthrogryposis, but also for other muscular dystrophies as well.
Funding for this MDA research grant began Aug. 1, 2015.
Grantee: DD - Aikaterini Kontrogianni-Konstantopoulos, Ph.D.
Grant type: Research Grant
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Grant - Summer 2015 - CMT - Robert Burgess, Ph.D.
Robert Burgess, a professor at The Jackson Laboratory in Bar Harbor, Maine, has been awarded an MDA research grant totaling $300,000 over three years. Burgess and co-investigator Scott Harper, associate professor at Nationwide Children’s Hospital Center for Gene Therapy in Columbus, Ohio, will test an AAV gene therapy approach to specifically block the altered form of the GARS gene in a newly developed mouse model for type 2D Charcot-Marie-Tooth disease (CMT). Successful completion of these studies could lead to a new therapy for type 2D CMT and provide a proof of principle for this approach that may be applicable to other types of CMT.
Funding for this MDA research grant began Aug. 1, 2015.
Grantee: CMT - Robert Burgess, Ph.D.
Grant type: Research Grant
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Grant - Summer 2015 - CMT - Robert Baloh, M.D., Ph.D.
Robert Baloh, associate professor-in-residence in the department of neurology at the University of California, Los Angeles, has been awarded an MDA research grant totaling $300,000 over three years to study the molecular mechanism of type 2A Charcot-Marie-Tooth disease (CMT) due to mutations in the Mitofusin 2 (MFN2) gene. Baloh has developed a new mouse model that he will use in his research to test whether gene therapy with a gene called MFN1 could serve as a therapeutic approach.
Funding for this MDA research grant began Aug. 1, 2015.
Grantee: CMT - Robert Baloh, M.D., Ph.D.
Grant type: Research Grant
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Grant - Summer 2015 - CMT - Daniel Summers, Ph.D.
Daniel Summers, a postdoctoral research scholar in the department of genetics at Washington University School of Medicine in St. Louis, was awarded an MDA development grant totaling $180,000 over three years to investigate how activation of a protein called SARM leads to the loss of metabolites that are essential for the health of peripheral nerves in Charcot-Marie-Tooth disease (CMT). Further knowledge of this pathway may highlight whether blocking SARM may be a novel therapeutic approach for CMT and other peripheral neuropathies.
Funding for this MDA development grant began Aug. 1, 2015.
Grantee: CMT - Daniel Summers, Ph.D.
Grant type: Development Grant
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Grant - Summer 2015 - CMT - Aaron DiAntonio, M.D., Ph.D.
Alan A. and Edith L. Wolff Professor of Developmental Biology Aaron DiAntonio at Washington University school of Medicine in St. Louis was awarded an MDA research grant totaling $300,000 over three years to identify novel targets to block nerve degeneration in Charcot-Marie-Tooth disease (CMT). DiAntonio will perform a genetic screen in fruit flies to identify genetic suppressors of nerve degeneration and then test these targets in human nerve cells in a dish. The resulting targets will be potential candidates for the treatment of peripheral neuropathy and other disorders in which motor axons are lost.
Funding for this MDA research grant began Aug. 1, 2015.
Grantee: CMT - Aaron DiAntonio, M.D., Ph.D.
Grant type: Research Grant
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Grant - Summer 2015 - CMS - Ricardo Maselli, M.D.
Ricardo Maselli, a professor in the neurology department at the University of California Davis was awarded an MDA research grant totaling $300,000 over three years to test whether transplantation of stem cells engineered to secrete a needed protein could be a beneficial treatment strategy in congenital myasthenic syndromes (CMS). If studies in a mouse model are successful, testing could advance to patients. Promising results could steer the field to a new therapeutic strategy for CMS.
Funding for this MDA research grant began Aug. 1, 2015.
Grantee: CMS - Ricardo Maselli, M.D.
Grant type: Research Grant
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Grant - Summer 2015 - CMD - Peter Currie, Ph.D.
Peter Currie, professor of medicine at Monash University in Australia, was awarded an MDA research grant totaling $300,000 over three years to test two therapeutic strategies for laminin alpha-2 deficiency in a zebrafish model of congenital muscular dystrophy (CMD). The work will support or refute the hypothesis that muscle fiber detachment is the primary defect in laminin 2-deficient muscular dystrophies, and could prompt a paradigm shift for therapeutic strategies in these diseases.
Funding for this MDA research grant began Aug. 1, 2015.
Grantee: CMD - Peter Currie, Ph.D.
Grant type: Research Grant
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Grant - Summer 2015 - CMD - Liza Pon, Ph.D.
Liza Pon, professor of pathology and cell biology at Columbia University in New York was awarded an MDA research grant totaling $300,000 over three years to study the underlying mechanisms at work in CHKB congenital muscular dystrophy (CMD). Pon also will test whether therapies that promote function of a protein known as the ryanodine receptor (RyR), which plays a critical role in contraction of skeletal and heart muscle, can promote muscle function or prevent muscle degeneration in a mouse model for CHKB CMD and in muscle cells taken from CHKB CMD patients.
Funding for this MDA research grant began Aug. 1, 2015.
Grantee: CMD - Liza Pon, Ph.D.
Grant type: Research Grant
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Grant - Summer 2015 - CCD - Montserrat Samso, Ph.D.
Montserrat Samso, assistant professor in the department of physiology at Virginia Commonwealth University in Richmond, was awarded an MDA research grant totaling $300,000 over three years to generate a crystal structure of the ryanodine receptor (RyR1), an intracellular calcium channel, at high resolution and in different conformational states, with and without disease-causing mutations, to allow a better understanding of its function and role in central core disease (CCD). Samso aims to increase the basic understanding of a receptor critical for normal muscle function and provide the basis for rational structure-based design of small molecules aimed at counteracting the CCD-causing mutations that destabilize it.
Funding for this MDA research grant began Aug. 1, 2015.
Grantee: CCD - Montserrat Samso, Ph.D.
Grant type: Research Grant
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Grant - Summer 2015 - ALS - Rita Sattler, Ph.D.
Rita Sattler, associate professor of neurobiology at Barrow Neurological Institute, Dignity Health – St. Joseph’s Hospital in Phoenix, was awarded an MDA research grant totaling $300,000 over three years to elucidate the mechanisms underlying ALS (amyotrophic lateral sclerosis) caused by mutations in the C9ORF72 gene. Sattler will use patient stem cells and new mouse models to investigate whether alterations in the C9ORF72 gene lead to changes in the fine structure of nerve cells, which could affect the transmission of information between nerves. The identification of these changes will give further insight into how C9ORF72 mutations cause ALS and whether therapies targeting these associated changes could be beneficial for patients.
Funding for this MDA research grant began Aug. 1, 2015.
Grantee: ALS - Rita Sattler, Ph.D.
Grant type: Research Grant
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Grant - Summer 2015 - ALS - Justin Ichida, Ph.D.
Justin Ichida, assistant professor in the department of stem cell biology and regenerative medicine at the University of Southern California in Los Angeles, was awarded an MDA research grant to elucidate the mechanisms underlying ALS (amyotrophic lateral sclerosis) caused by mutations in the C9ORF72 gene. Ichida will investigate whether mutations in the C9ORF72 gene lead to a loss of the protein’s normal function or a gain of a toxic new function, and how this could affect motor neuron health in ALS. Knowledge gained from this research will help inform scientists about whether future therapy development should aim to increase the protein’s normal function or reduce toxic downstream effects of altered C9ORF72 protein.
Funding for this MDA research grant began Aug. 1, 2015.
Grantee: ALS - Justin Ichida, Ph.D.
Grant type: Research Grant
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Grant - Summer 2015 - ALS - Jeffrey Rothstein, M.D., Ph.D.
Jeffrey Rothstein, professor of neurology and neuroscience at Johns Hopkins University School of Medicine in Baltimore, was awarded an MDA research grant totaling $300,000 over three years to elucidate the mechanisms underlying ALS (amyotrophic lateral sclerosis) caused by mutations in the C9ORF72 gene. Rothstein will use ALS patient-derived stem cells to investigate the role of nuclear dysfunction in ALS caused by C9ORF72 mutations. The work could uncover novel drug targets for ALS.
Funding for this MDA research grant began Aug. 1, 2015.
Grantee: ALS - Jeffrey Rothstein, M.D., Ph.D.
Grant type: Research Grant
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Grant - Summer 2015 - ALS - Haining Zhu, Ph.D.
Haining Zhu, a professor in the department of molecular and cellular biochemistry at the University of Kentucky in Lexington, was awarded an MDA research grant totaling $300,000 over three years to study the underlying mechanisms of ALS (amyotrophic lateral sclerosis) caused by mutations in the Fused in Sarcoma (FUS) gene. Zhu recently has found that the FUS protein in ALS is modified by the addition of a phosphate group — a process called phosphorylation. He’s now working to understand what role phosphorylation of the FUS protein plays in causing the protein to become toxic and whether use of an inhibitor to block phosphorylation can prevent toxicity and normalize FUS function. If successful, Zhu’s work could lead to a new therapeutic strategy for ALS.
Funding for this MDA research grant began Aug. 1, 2015.
Grantee: ALS - Haining Zhu, Ph.D.
Grant type: Research Grant
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Grant - Summer 2015 - ALS - Gary Armstrong, Ph.D.
Gary Armstrong, a senior post-doctoral researcher at Université de Montréal in Quebec, Canada, was awarded a development grant totaling $177,670 over three years to further understanding of the synaptic defects that occur in ALS (amyotrophic lateral sclerosis). Abnormalities arising at the neuromuscular junction occur early in animal models of the disease and very little is known about the role central synaptic defects play in disrupting neuronal communication with the muscular system. A greater understanding of these abnormalities will facilitate the development of the next generation of therapeutics that target early functional defects and slow or stop the progression of ALS.
Funding for this MDA development grant began Aug. 1, 2015.
Grantee: ALS - Gary Armstrong, Ph.D.
Grant type: Development Grant
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Grant - Summer 2015 - ALS - Don Cleveland, Ph.D.
Don Cleveland, distinguished professor and chair in the department of cellular and molecular medicine at the University of California, San Diego, in La Jolla, was awarded an MDA research grant totaling $300,000 over three years to elucidate the mechanisms of ALS (amyotrophic lateral sclerosis)caused by mutations in the Fused in Sarcoma (FUS) gene. Cleveland and colleagues will be using newly developed mouse models to investigate whether alterations in the FUS gene cause ALS by a loss of the normal function of the FUS protein or through adoption of a new, toxic function of the protein. A better appreciation of how FUS alterations cause motor neuron death will aid in determining what type of treatment approach may work best for this type of ALS.
Funding for this ALS research grant began Aug. 1, 2015.
Grantee: ALS - Don Cleveland, Ph.D.
Grant type: Research Grant
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Grant - Summer 2015 - ALS - Davide Trotti, Ph.D.
Davide Trotti, professor of neuroscience at Thomas Jefferson University in Philadelphia, was awarded an MDA research grant totaling $300,000 over three years to elucidate the mechanisms of ALS (amyotrophic lateral sclerosis) caused by mutations in the C9ORF72 gene. Trotti will study how the accumulation of protein clumps in patients with C9ORF72 ALS may contribute to motor neuron death. If these protein clumps are shown to drive the ALS disease process, drugs could be developed to block their accumulation or dissolve the clumps.
Funding for this MDA research grant began Aug. 1, 2015.
Grantee: ALS - Davide Trotti, Ph.D.
Grant type: Research Grant
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Grant - Summer 2015 - ALS - Angelo Lepore, Ph.D.
Angelo Lepore, assistant professor in the department of neuroscience in Sidney Kimmel Medical College at Thomas Jefferson University in Philadelphia, was awarded an MDA research grant totaling $300,000 over three years to examine a new mechanism by which non-nerve cells called astrocytes contribute to motor neuron death in ALS (amyotrophic lateral sclerosis). Despite being primarily a motor neuron disorder, studies in ALS animal models and with patient tissues suggest that cellular abnormalities are not limited to motor neurons. In particular, astrocytes, which are non-neuronal cells with important functions in the central nervous system, play a key role in ALS progression. However, the mechanisms involved in astrocyte contribution to ALS pathogenesis remain largely not understood, thus hampering development of effective therapies for targeting this cell population and for treating this disease. An improved understanding of how astrocytes contribute to motor neuron death may lead to new therapeutic targets.
Funding for this MDA research grant began Aug. 1, 2015
Grantee: ALS - Angelo Lepore, Ph.D.
Grant type: Research Grant
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MDA Resource Center: We’re Here For You
Our trained specialists are here to provide one-on-one support for every part of your journey. Send a message below or call us at 1-833-ASK-MDA1 (1-833-275-6321). If you live outside the U.S., we may be able to connect you to muscular dystrophy groups in your area, but MDA programs are only available in the U.S.
Grant - Summer 2015 - CMT - Robert Baloh, M.D., Ph.D.
Robert Baloh, associate professor-in-residence in the department of neurology at the University of California, Los Angeles, has been awarded an MDA research grant totaling $300,000 over three years to study the molecular mechanism of type 2A Charcot-Marie-Tooth disease (CMT) due to mutations in the Mitofusin 2 (MFN2) gene. Baloh has developed a new mouse model that he will use in his research to test whether gene therapy with a gene called MFN1 could serve as a therapeutic approach.
Funding for this MDA research grant began Aug. 1, 2015.
Grantee: CMT - Robert Baloh, M.D., Ph.D.
Grant type: Research Grant
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