PCORnet Blog

A Monumental Step Toward Understanding and Diagnosing Prosopagnosia (Face Blindness)

Author: Christina Pressl, MD, Clinical Scholar and Investigator for New York City Clinical Data Research Network (NYC-CDRN), one of 13 Clinical Data Research Networks (CDRNs) funded by PCORI.

Christina received her MD from the Medical University of Graz, Austria in 2009. She then spent the following three years of residency in Radiology at the General Hospital, Medical University, Vienna before moving to New York City, where she joined Memorial Sloan Kettering Cancer Center as a visiting investigator. In July 2014, she joined the Masters Program in Clinical Translational Sciences at the Rockefeller University where she now studies the neuronal mechanisms of face perception as an instructor in clinical investigations in Dr. Winrich Freiwald’s Laboratory of Neutral Systems.


Imagine a life where you are unable to recognize your friends; unable to spot your own child within a group of children; unable to recognize your partner; or even unable to recognize your own face in the mirror. For those who suffer from prosopagnosia—or face blindness, a condition that causes great difficulty in recognizing, memorizing, and perceiving people’s faces—this concept is a very real, often debilitating way of life.

With the support of the Patient-Centered Outcomes Research Institute (PCORI) and its New York City Clinical Data Research Network (NYC-CDRN), researchers and clinical investigators like myself are opening new possibilities to study this rare and little-known condition. By harnessing rich data sets, we are able to shed light on aspects of this condition that may have previously been impossible to study.

Functioning face perception is a skill we use in our everyday life, so it is not surprising that face blindness can be socially devastating. And yet, there is still so much we do not know about the condition. From what has been previously studied, we do know that it can be present either in a developmental or an acquired form through incidents that compromise brain function, such as trauma or stroke. However, the information gaps around face blindness remain substantial. We do not know what genes may be involved and are not certain if the condition can be inherited. Researchers are still not able to pinpoint the exact number of individuals affected by either developmental or acquired face blindness, although it is estimated that up to two percent of the general population suffer, to some degree, from face blindness.

I wanted to find answers to all these questions and help those suffering from prosopagnosia, so for the last three years, I have studied face perception in Dr. Winrich Freiwald’s Laboratory of Neural Systems at the Rockefeller University. It was here that I met Dr. Jonathan Tobin, who is the Community Engagement Core Co-Director of the Rockefeller University Center for Clinical and Translational Science (CCTS). He introduced me to PCORI, and after learning of its wonderful and relevant mission, I saw an opportunity to build the capacity to identify rare disorders like prosopagnosia that may be under-diagnosed in practice.

Through this connection, a study was created, and a research team set out to study the epidemiological characteristics of prosopagnosia using the NYC-CDRN.

Funded by PCORI, the NYC-CDRN’s mission is to archive a large number of electronic health records from 22 New York City based healthcare centers and organize those records into a structured, de-identified database, making the data accessible for research. Researchers can then work with a central institutional review board to establish protocols that will allow us to utilize its database—which, to date, contains de-identified, longitudinal electronic health records from approximately eight million unique patients—to shed light on almost any condition of interest and answer questions from entirely new perspectives.

With millions of health records at our fingertips, the investigational possibilities seemed limitless, but our team decided to answer the most pressing question first: how many face blind individuals would we find?

To answer this, we designed a computable phenotype (or set of clinical features that can be determined solely from the data in electronic health records) that contains a list of International Classification of Diseases (ICD) diagnostic codes encoding not only for the condition of interest—prosopagnosia—but also for conditions such as head trauma or stroke, which have been associated with face blindness.

Christina Pressl presents poster at the ACTS Conference, Washington DC.

The main aim of this study is to provide new insights into the epidemiological characteristics of prosopagnosia and to create a tool that would enable us to report frequencies of potentially undiagnosed cases within the population. Our work is off to a promising start; our preliminary findings suggest that there may be a vast underdiagnosis of prosopagnosic cases in the New York City area, especially within the elevated population at risk.

This endeavor is unique; it enables us to provide reports that are derived from the largest sample of prosopagnosic individuals ever investigated, and it is our hope that we will be able to deliver new knowledge to the community to ultimately help individuals who suffer from prosopagnosia, empower them through this knowledge, and provide them with ways to connect to other face blind individuals.

Read more about prosopagnosia on my website or view a town hall meeting on “Living with Face Blindness” held at Rockefeller University on December 13th, 2016.

This research was supported by grant UL1 TR001866, UL1TR000043 from the National Center for Advancing Translational Sciences (NCATS), National Institutes of Health(NIH) Clinical and Translational Science Award(CTSA) program.


About PCORnet

PCORnet, the National Patient-Centered Clinical Research Network, is an innovative initiative of the Patient-Centered Outcomes Research Institute (PCORI). The goal of PCORnet is to improve the nation’s capacity to conduct clinical research by creating a large, highly representative network that directly involves patients in the development and execution of research. More information is available at www.pcornet.org.

About PCORI

The Patient-Centered Outcomes Research Institute (PCORI) is an independent, nonprofit organization authorized by Congress in 2010. Its mission is to fund research that will provide patients, their caregivers, and clinicians with the evidence-based information needed to make better-informed healthcare decisions. PCORI is committed to continually seeking input from a broad range of stakeholders to guide its work. More information is available at www.pcori.org