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Machine Learning App Aids Rare Disease Dx
Early diagnosis of rare genetic disorders can help families seek spe- cialized treatments, yet families often wait years for test results and referrals to specialists. Many of the 7,000 known rare diseases have specific facial signatures, yet the facial signatures can be subtle and difficult to diagnose, even for a trained professional.
The latest medical technology, however, is helping physicians identify syndromes and diseases using facial recognition software. Face2Gene, developed by FDNA Inc., is one tech- nology that physicians can download to their smart phone. After taking a picture of a patient’s face and upload- ing to the Face2Gene CLINIC, de- identified data points from the photo are extracted and compared to a database of hundreds of thousands
of similar data points from real-world
patients who have been diagnosed with rare and ultra-rare genetic disor- ders. Within seconds, a list of priori- tized syndromes and comprehensive phenotypic information that supports clinical evaluations, as well as analysis and interpretation of genetic testing, is presented. And since Face2Gene uses a machine-learning algorithm, the app learns from every new face it scans. The more data it acquires, scientists hope, the more accurate the diagnosis.
Face2Gene offers a suite of pheno- typing apps to facilitate comprehensive and precise genetic evaluations. In ad- dition to facial recognition, it provides forums for collaborative case review, a database library for dysmorphology content, labs for variant analysis and an interactive dysmorphology training tool.
Although Face2Gene is publicly available, its developers recommend
only experts use it. Currently, the app doesn’t have the sophistication to identify typically developing chil- dren and will match an individual to the closest possible syndrome. This could generate false positives for a non-professional user. When down- loading the app via iTunes, physicians are asked to certify their credentials as a healthcare professional before sign-up is complete.
Face2Gene is not intended to re- place physicians, but to serve as a screening tool to expedite appropriate diagnosis. Pediatricians, nurse practi- tioners and physicians’ assistants can quickly direct patients and their fami- lies toward appropriate genetic testing and specialized treatment.
Source: Jane C. Hu, How Machine Learning is Revolutionizing the Diagnosis of Rare Diseases, December 28, 2016, accessed January 2017 at nbcnews.com
Source: Centers for Disease Control and Prevention, Study Finds Zika Virus Replicates and Persists in Fetal Brains and Placentas, December 13, 2016, accessed January 2017 at cdc.gov
Study Shows Zika Replicates and Persists
Zika virus can make thousands of copies of itself in fetuses’ brains and in the placentas of pregnant women, which may help explain how the virus causes devastating birth defects and pregnancy losses even if a woman had only a minor illness. A new study by the Centers for Disease Control and Prevention (CDC) is the first to show Zika virus RNA (genetic material of the virus) replicating in brain tissues of infants with microcephaly who later died and in placentas of women who suffered pregnancy losses.
CDC scientists found Zika virus RNA persisted in fetal brains and
in placentas for more than seven months after the mothers contracted Zika. The researchers also found evidence of the virus replicating
in an infant with microcephaly who died two months after birth. The RNA levels were about 1,000 times higher in the infants’ brains than in the women’s placentas, according to the study published in CDC’s Emerging Infectious Diseases journal.
The study shed light on how the virus can cross the placenta and infect the fetus’s brain. Researchers found Zika virus infects and pro- liferates in Hofbauer cells, a type
of migratory immune cell in the placenta. Because the Hofbauer cells can move freely throughout the placenta, they may help transfer the virus to the fetus’s brain. Once there, the virus can infect various types of brain cells.
CDC researcher and lead author of the study, Julu Bhatnagar, PhD, said findings indicate that Zika virus can continue to replicate in infants’ brains even after birth, and that the virus can persist in placentas for months. Researchers remain uncertain how long the virus persists, but its per- sistence could have implications for babies born with microcephaly and for healthy babies whose mothers had Zika during pregnancy. More studies are needed, Dr. Bhatnagar said, to understand how the virus can affect babies.
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