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NIH Record  
Vol. LXVII, No. 6
  March 13, 2015
NIH Visitor Center Welcomes Variety of Guests
Risk Calculators Help Doctors, Patients Choose Best Treatment
Gupta Set to Give Rall Lecture, Mar. 25
Fulbright Scholar Cheung Integrates Brain Therapeutics, Culture to Treat Huntington’s
Wand To Deliver NIAAA’s Mendelson Lecture, Mar. 19
AI/AN Researchers Highlight Discoveries, Challenges at Forum
Record Number of Events Mark National Drug Facts Week
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To the Individual, Via the Million
Precision Medicine Initiative Launches at NIH

NIH director Dr. Francis Collins opens meeting.
NIH director Dr. Francis Collins opens meeting.

President Obama’s Precision Medicine Initiative (PMI) got an enthusiastic launch at NIH on Feb. 11-12 when a group of more than 80 scientists, patient advocates and representatives from academia, industry and professional organizations convened on campus to flesh out a proposal first mentioned at the State of the Union address on Jan. 20.

PMI has two components. The first is a near-term effort managed by the National Cancer Institute to capitalize on new knowledge about cancer genetics to target drugs more precisely. The second, longer-term component is to build a large national cohort of unprecedented scale—more than 1 million participants who choose to share health, clinical, lifestyle and behavior data—in an effort to accelerate biomedical discoveries and generate new treatments, diagnostic and preventive strategies that take into account the characteristics of individuals.


Prenatal Testing Revolutionizing Fetal Care

Dr. Diana Bianchi at NIH
Dr. Diana Bianchi at NIH
Recent advances in prenatal testing are transforming diagnosis and treatment of genetic conditions. A growing number of pregnant women are benefiting from a newer kind of noninvasive prenatal testing (NIPT) that analyzes cell-free fetal DNA circulating in the maternal blood. This blood test, which first became clinically available in 2011, can detect with great accuracy a range of aneuploidies (fetal chromosomal abnormalities) such as trisomy 21 (Down syndrome). These advances also are paving the way toward treating Down syndrome and other aneuploidies while the baby is still in the womb.

“We now can infer functional information about the developing brain in living fetuses,” said reproductive geneticist Dr. Diana Bianchi, whose research has had a dramatic impact on NIPT and opportunities for new fetal therapies. “That hasn’t been done before because most information about fetal gene expression is done post-mortem.”