Novel ALS PFN1 mouse model developed and new C9ORF72 disease mechanism uncovered

The ALS Association Research Department is pleased to show their research dollars in action. Two new papers that were recently published in high impact scientific journals Proceedings of the National Academy of Sciences (PNAS) and Cell were supported by The ALS Association. The first paper by Drs. Zuoshang Xu and John Landers from University of Massachusetts Medical School in Worcester, Mass., demonstrates a novel profilin 1 (PFN1) mouse model that displays disease characteristics similar to human disease. This paper underscores the importance of developing novel animal models to understand ALS disease processes and to discover new therapeutic targets. The second paper by Dr. J. Paul Taylor and colleagues from St. Jude Children’s Hospital in Memphis, Tenn. reveals a new disease mechanism involving the C9ORF72 expansion mutation that will be targeted for ALS therapy.

Our friend Ted

ted-haradaOur friend Ted Harada passed away this week.

Many of you may have known him. Ted was first diagnosed with ALS in August 2010 and immediately became a tireless advocate, volunteer, and voice of the ALS community.

He had served on The ALS Association Board of Trustees and on the board of directors for the Georgia Chapter, devoting precious hours of his life to steering our Association in the right direction.

NYGC’s Research Program Probes the Genetics and Genomics of ALS

Center for Genomics of Neurodegenerative Disease, New York Genome Center – By Dr. Hemali Phatnani

Through donations from the ALS Ice Bucket Challenge, The ALS Association is supporting strategic initiatives that emphasize collaboration, data sharing and state-of-the-art scientific methods. Here we feature the Center for Genomics of Neurodegenerative Disease (CGND) at the New York Genome Center (NYGC). Meet Dr. Hemali Phatnani and learn about how the CGND at the NYGC is making a huge impact on ALS research.

One of the Nation’s Largest ALS Precision Medicine Initiative Now Enrolling

In August 2015, The Association committed $3.5 million from money raised through the ALS Ice Bucket Challenge to the Genomic Translation for ALS Care (GTAC), a collaborative nationwide precision medicine initiative through Columbia University Medical Center (CUMC) and Biogen, which is being led by Dr. Matthew Harms. GTAC is actively enrolling now (scroll to the bottom for more details) with the ultimate goal of ensuring the genetic characterization of all people living with ALS.

harms-faculty-photo-1“There are several exciting aspects of the GTAC study,” said Dr. Harms. “On a larger scale than ever before, this study will combine the genomes, gene expression profile and clinical symptoms of a patient to look for shared factors among patients with ALS. We hope this information will allow us to design more successful clinical trials and eventually design personalized therapies for patients. The GTAC study also plans to return genetic findings to its participants, allowing them to learn about how their genes might be contributing to their disease.”

ALS Gene C9orf72 Damages DNA Revealing a New Disease Pathway

Today, a new disease pathway for C9orf72-related ALS was revealed in journal Neuron in a study led by principle investigator Dr. Fen-Biao Gao from the University of Massachusetts Medical School in Worcester, Mass. The research team found that the C9orf72 expansion leads to DNA damage, signifying another potential ALS therapeutic target. The ALS Association supported this encouraging study that also included current and past Milton Safenowitz Postdoctoral Fellows Dr. Dejun Yang (2015 recipient) and Dr. Helene Tran (2012 recipient).

Pictured above: Dr. Gao’s laboratory team



“Our ALS Association grant on iPSC models of ALS (2013–2016) played a key role in this study. In fact, this grant helped us accomplish much more than what we proposed in the initial application, because our research moves forward quickly. For instance, this grant also helped us on the studies of nucleocytoplasmic transport defects and the beneficial effects of Spt4 knockdown in iPSC-derived patient neurons with C9ORF72 repeat expansions (Freibaum*, Lu* et al., Nature 2015; Kramer et al., Science 2016).” – Dr. Gao, Principle Investigator