Seeing Things Differently
New Packard scientific advisors bring a fresh perspective to ALS research.
Packard welcomes two new researchers, Tom Cooper (left) and Maurice Swanson (right) to its Scientific Advisory Board.
The Scientific Advisory Board at the Packard Center has been joined by two new researchers: Thomas Cooper, a molecular biologist at Baylor College of Medicine in Houston, and Maurice Swanson, a molecular geneticist at the University of Florida in Gainesville. Both researchers bring a wealth of expertise to Packard.
"The Center's goal is to work in synergy with investigators, collaborating foundations and advisors to tackle ALS from every front. I am happy to welcome Drs. Cooper and Swanson, who will bring another new layer of expertise into our program, and whose perspective will be significant to help us move our new research portfolio forward," said Piera Pasinelli, Scientific Director for Packard.
Although the Scientific Advisory Board might not always be visible, they participate in every single project at Packard from the initial solicitations of grant proposals to evaluating the research produced as a result of the grants.
Identifying potential Packard scientists and soliciting grant proposals from them is one of the Advisory Board's primary roles. Members of the Advisory Board invite researchers studying ALS and certain related disorders to submit a grant proposal, in which the researcher outlines what aspect of the disease they would like to study, and how they would go about conducting their experiments. After the grants are reviewed by an internal and external committee, Pasinelli takes the Advisory Board's comments into consideration and makes the final decision on whether to fund the research.
The Scientific Advisory Board is key to the quick turnaround time of Packard grants, says Rebecca Berger, Research Program Coordinator at Packard. Whereas most grants submitted to government agencies like the National Institutes of Health take several months to go through the review process, Packard grants are generally approved within six to eight weeks. The expertise of the Advisory Board is crucial to this rapid decision-making, she noted.
The specialties of the two newest Board members might initially seem odd: neither scientist specifically researches ALS. Yet their knowledge of the molecular mechanisms of similar diseases will bring a fresh perspective to the study of ALS. Cooper, who presented the keynote talk at this year's Packard symposium in March, studies myotonic dystrophy, a degenerative disease that leads to muscle wasting. One of the causes of myotonic dystrophy is a genetic mutation in which a short repeat of DNA is repeated hundreds or thousands of times. When the cell goes to translate this gene into a protein, it first turns the DNA into RNA, and then builds the protein from RNA. This huge repeat of DNA, however, creates toxic RNA that damages the cell and can't be turned into the correct protein.
This type of mutation--known as a repeat expansion--is strikingly similar to the newly discovered mutation in C9ORF72 that was discovered last fall and is the most common cause of familial ALS. The years Cooper has studied repeat expansions in myotonic dystrophy will help move ahead research into C9ORF72. "Although this type of repeat expansion mutation is new to the ALS community, I've been working on these types of mutations for a while, which adds a layer of expertise," Cooper said. "And an outsider's perspective brings fresh eyes to the research."
Swanson also researches diseases stemming from toxic RNA, such as myotonic dystrophy, and spinocerebellar ataxia. Like the C9ORF72 gene, the repeat expansions in two genes known to cause myotonic dystrophy occur in a region that doesn't get translated into a protein. These repeats, however, don't get removed from the RNA as they should, which Swanson believes traps other helpful proteins in the nucleus, where they can't do their job. This same mechanism, he says, might be involved in the pathogenesis of ALS.
"The landmark discovery of the C9ORF72 mutation has opened up many new avenues of ALS research, and the arrival of Drs. Cooper and Swanson makes Packard poised to help pursue those avenues and somehow 'think out of the box' to hopefully make new discoveries into ALS pathogenesis and treatments," Pasinelli said.
Both scientists say they are thrilled and flattered to be joining Packard. "It's a dynamic group of outstanding investigators. There's a tremendous collection of projects tackling the illness from a range of perspectives, and I hope to learn quite a bit through Packard," Swanson said.
–– Carrie Arnold