Download New Study Reveals Power of Family History to Identify 17 New

New Study Reveals Power of Family History to Identify
17 New Disease-Causing Mutations
New York, NY - January 17, 2017 - Deploying advanced data analytics, scientists at the
New York Genome Center (NYGC) are uniquely harnessing a family-centric approach for
identifying genetic variants that influence the risk of serious diseases such as Alzheimer’s
disease, cardiac disease and diabetes.
The approach enables a broad study of these diseases because it utilizes the DNA from family
members of patients to map risk factors, rather than the DNA from the patients themselves.
The researchers refer to this methodology as genome-wide association studies by proxy. This
allows genomic studies of diseases where it may be difficult to obtain DNA samples from
patients themselves.
The innovative approach is described in a study recently published in Nature Genetics by Dr.
Joseph Pickrell, Core Member and Assistant Professor, NYGC and Assistant Professor,
Columbia University; Dr. Yaniv Erlich, Core Member and Assistant Investigator, NYGC, and
Assistant Professor, Columbia University; and, Dr. Jimmy Liu, Bioinformatics Scientist at
NYGC. The researchers illustrated the technique by performing genome-wide association
studies by proxy on 12 common diseases in more than 100,000 individuals whose DNA data is
housed at the UK Biobank — a database from a large population-based study of over 500,000
individuals ages 40-69 recruited from 2006 to 2010.
The authors combined these results with published summary statistics in what is known as a
meta-analysis. The results predictably replicated established risk variants, and they also
identified 17 newly associated variants — four in Alzheimer’s disease, eight in coronary heart
disease and five in type 2 diabetes.
In the study “Case-control association mapping by proxy using family history of disease,” the
authors describe how this technique researchers to perform disease studies that were
previously impossible. For example, large studies like the UK Biobank or the US Precision
Medicine Initiative tend to recruit healthy individuals. There are few people with serious
diseases like Alzheimer’s disease in these studies. Instead of relying on genomic analysis of
patients themselves, the technique described by the NYGC researchers involves genotyping
family members of patients.
Dr. Pickrell predicted that use of this approach could be an important tool for studying a broad
range of diseases. “There are many diseases—from autism to sudden cardiac death to dementia
— where recruiting patients into studies has historically been difficult or impossible,” said Dr.
Pickrell. “Using this technique, we hope to run powerful genomic studies of these diseases.”
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Dr. Erlich described the technique as, “Informing disease biology but also demonstrating the
effectiveness of using family history of disease as an important ingredient in uncovering the
variants that cause these ailments.”
To read the full study, click this link.
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About the New York Genome Center
The New York Genome Center (NYGC) is an independent nonprofit at the forefront of
transforming biomedical research and clinical care with the mission of saving lives. Comprised
of renowned academic, medical and industry leaders across the globe, NYGC focuses on
translating genomic research into clinical solutions for serious diseases. Our member
organizations and partners are united in this unprecedented collaboration of technology,
science and medicine. We harness the power of innovation and discoveries to improve people’s
lives — ethically, equitably and urgently.
In 2016, NYGC was awarded $40 million, over four years, from the National Human Genome
Research Institute (NHGRI), a division of the National Institutes of Health (NIH), to create
the NYGC Center for Common Disease Genomics (CCDG) and establish a collaborative, largescale whole genome sequencing program. Recently, NHGRI awarded $6.4 million in
supplemental funding to support the CCDG’s focus on autism, asthma and Alzheimer’s disease.
The NHGRI’s CCDG Program funds four of the top genome centers in the country including
NYGC. The goal is to use genome sequencing to explore the genomic contributions to common
diseases such as autism, heart disease, diabetes and stroke.
Media Contact:
New York Genome Center
Karen Zipern, Director of Communications
(646) 977-7065
[email protected]
New York Genome Center | 101 Avenue of the Americas | New York, NY 10013