Joining the biobank

Dear Mass General Research Community,

Welcome to our year-end edition of From the Lab Bench!

Over the next few weeks, you will probably hear from many people who will be glad to have 2016 over and done with. But when I look back over the past year, I see a lot to be encouraged about.

This year we reached new milestones in charitable giving to support our research programs, with the establishment of the first endowed chair at the Mass General Research Institute: the Bernard and Mildred Kayden Endowed MGH Research Institute Chair.

We also received a gift to support new programs designed to help our researchers better communicate their science.

In an age where people are questioning the validity of information more than ever, it is crucial that our scientists are able to clearly communicate both the importance of their work and the scientific basis that supports it.

As always, we are grateful for the incredible commitment that the sponsors of the MGH Research Scholars program have shown in providing our talented investigators with unrestricted funds to support their research. This year, we were able to add six more scholars to the program, bringing the total number supported since the program’s inception to 42 investigators.

We’d also like to thank the members of our Research Institute Advisory Council, who have given countless hours of their time this year to help us build new connections with industry.

The spirit of giving is not only limited to our forward-thinking philanthropic partners.

In this month’s newsletter, you’ll see stories that highlight the importance of giving to the research process itself, whether it is study participants—like me (see photo above)—consenting to have their samples added to our biobank or to the NIH’s new Personalized Medicine Initiative, or investigators who agree to share their data so we can learn more about the genetic causes of disease.

As we look toward making our New Year’s resolutions for 2017, I’d ask all of you to think about how we might use giving to enhance our research community.

Maybe you’re not ready to share your study data with the world or name an endowed chair, but even small acts of giving can make a big difference.

You can give of your time to ask a colleague what they are working on, share your enthusiasm for science by speaking to students or community groups, or volunteer to serve on one of our research committees—just to name a few.

Together, we can make 2017 a great year for research at Mass General.

Until next year,


Susan A. Slaugenhaupt, PhD
Scientific Director,
Mass General Research Institute


First of its Kind Data Sharing Tool Leads to New Insights in Rare Diseases

It has often been said that searching for genetic clues to rare disease is like looking for a needle in a haystack.

It’s even more difficult when you’re not sure what makes the needle different from the hay.

That was essentially the challenge facing researchers in rare disease genetics up until two years ago, when a team led by Daniel MacArthur, PhD, launched the Exome Aggregation Consortium (ExAC) database—a collection of 60,000 sequenced human exomes (the protein-coding portion of the human genome).

The database was by far the largest collection of genetic sequences that could be used as a point of reference for research into the genetics of rare disease.

MacArthur, an investigator with the Center for Human Genetics Research at Massachusetts General Hospital, has a co-appointment at the Broad Institute of MIT and Harvard, where the browser was developed and launched.

Since its launch, the ExAC browser has been accessed well over six million times, and MacArthur estimates that the tool has assisted in the diagnoses of tens of thousands of rare disease patients.

The tool has provided new insights into rare disease research and disease prognosis, and in some cases has identified new therapies for previously untreatable diseases.



Mass General to Play Key Role in National Precision Medicine Initiative: The All of Us Research Program

Why do some patients with depression respond better to psychiatric medicine than others?

What makes one 35-year-old woman more likely to develop breast cancer than another woman of a similar age and medical history?

Can we identify individuals at risk of developing heart disease early on and take steps to prevent it from happening?

These questions—and many more like them—are among those posed by precision medicine, an emerging approach to medical research and disease treatment that takes into account a person’s genetic and molecular profile, along with environmental and lifestyle factors.

Massachusetts General Hospital is poised to play a key role in the future of precision medicine as part of the National Institutes of Health’s All of Us Research Program.


The Partners Biobank at Massachusetts General Hospital
The Partners Biobank at Massachusetts General Hospital is an comprehensive resource provided by the institution that offers access to over 50,000 patient samples that are linked to electronic health records and longitudinal survey data.
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