Quantcast
ZME Science
  • News
  • Environment
  • Health
  • Future
  • Space
  • Features
    Menu
    Natural Sciences
    Health
    History & Humanities
    Space & Astronomy
    Technology
    Culture
    Resources
    Natural Sciences

    Physics

    • Matter and Energy
    • Quantum Mechanics
    • Thermodynamics

    Chemistry

    • Periodic Table
    • Applied Chemistry
    • Materials
    • Physical Chemistry

    Biology

    • Anatomy
    • Biochemistry
    • Ecology
    • Genetics
    • Microbiology
    • Plants and Fungi

    Geology and Paleontology

    • Planet Earth
    • Earth Dynamics
    • Rocks and Minerals
    • Volcanoes
    • Dinosaurs
    • Fossils

    Animals

    • Mammals
    • Birds
    • Fish
    • Reptiles
    • Amphibians
    • Invertebrates
    • Pets
    • Conservation
    • Animals Facts

    Climate and Weather

    • Climate Change
    • Weather and Atmosphere

    Geography

    Mathematics

    Health
    • Drugs
    • Diseases and Conditions
    • Human Body
    • Mind and Brain
    • Food and Nutrition
    • Wellness
    History & Humanities
    • Anthropology
    • Archaeology
    • Economics
    • History
    • People
    • Sociology
    Space & Astronomy
    • The Solar System
    • The Sun
    • The Moon
    • Planets
    • Asteroids, Meteors and Comets
    • Astronomy
    • Astrophysics
    • Cosmology
    • Exoplanets and Alien Life
    • Spaceflight and Exploration
    Technology
    • Computer Science & IT
    • Engineering
    • Inventions
    • Sustainability
    • Renewable Energy
    • Green Living
    Culture
    • Culture and Society
    • Bizarre Stories
    • Lifestyle
    • Art and Music
    • Gaming
    • Books
    • Movies and Shows
    Resources
    • How To
    • Science Careers
    • Metascience
    • Fringe Science
    • Science Experiments
    • School and Study
    • Natural Sciences
    • Health
    • History and Humanities
    • Space & Astronomy
    • Culture
    • Technology
    • Resources
  • Reviews
  • More
    • Agriculture
    • Anthropology
    • Biology
    • Chemistry
    • Electronics
    • Geology
    • History
    • Mathematics
    • Nanotechnology
    • Economics
    • Paleontology
    • Physics
    • Psychology
    • Robotics
  • About Us
    • About
    • The Team
    • Advertise
    • Contribute
    • Privacy Policy
    • Contact
No Result
View All Result
ZME Science

No Result
View All Result
ZME Science

Home → Health

Facial recognition software can diagnose rare genetic disease with 96% accuracy

It's similar to how Facebook's facial tracking algorithm works, only much more useful.

Tibi Puiu by Tibi Puiu
July 25, 2019
in Health, News

A facial recognition software similar to that used in airports or on Facebook has been used to diagnose children suffering from a rare genetic defect.

How the software analyzes physical traits to for a possible diagnosis with DiGeorge syndrome, a rare disease. Credit: Paul Kruszka, et al.
How the software analyzes physical traits to for a possible diagnosis with DiGeorge syndrome, a rare disease. Credit: Paul Kruszka, et al.

The disease in question is called 22q11.2 deletion syndrome, also known as DiGeorge syndrome or velocardiofacial syndrome. It affects only 1 in 3,000 to 1 in 6,000 children worldwide — a wide margin due to the inherent difficulty of pinning a diagnosis. Children with DiGeorge can present multiple kinds of defects like cleft palate, heart defects, learning problems, but also a characteristic facial appearance. It’s the latter characteristic that was used by researchers at the National Human Genome Research Institute (NHGRI) in an automated diagnosis software.

“Human malformation syndromes appear different in different parts of the world,” said Paul Kruszka, M.D., M.P.H., a medical geneticist in NHGRI’s Medical Genetics Branch, and lead author of the new paper published in the American Journal of Medical Genetics. “Even experienced clinicians have difficulty diagnosing genetic syndromes in non-European populations.”

The team trained their software using clinical data from 106 individuals and the mugshot photos of 101 participants with the disease from 11 countries in Africa, Asia, and Latin America. Their appearance varied widely across the groups but based on 126 individual facial features, the software was able to make a correct diagnosis for a group of 156 Caucasians, Africans, Asians and Latin Americans 96.6 percent of the time.

The ultimate goal is to make this kind of technology more readily available such as in the form of a mobile app. One day, a healthcare professional needs only to snap a picture of the patient’s face and have it analyzed and receive a diagnosis within seconds.

Last December, in 2016, the same researchers used the software to very accurately diagnose Down syndrome. Now, they plan on extending the software’s capabilities to Noonan syndrome and Williams syndrome, both of which are rare.

Also last year, the NHGRI along with collaborators launched the Atlas of Human Malformations in Diverse Populations which documents the physical traits of people with many different inherited diseases around the world.

“Healthcare providers here in the United States as well as those in other countries with fewer resources will be able to use the atlas and the facial recognition software for early diagnoses,” said Maximilian Muenke, M.D., atlas co-creator and chief of NHGRI’s Medical Genetics Branch. “Early diagnoses means early treatment along with the potential for reducing pain and suffering experienced by these children and their families.”

Was this helpful?


Thanks for your feedback!

No related posts.

Tags: facial recognition

ADVERTISEMENT
  • News
  • Environment
  • Health
  • Future
  • Space
  • Features
  • Reviews
  • More
  • About Us

© 2007-2021 ZME Science - Not exactly rocket science. All Rights Reserved.

No Result
View All Result
  • News
  • Environment
  • Health
  • Future
  • Space
  • Features
    • Natural Sciences
    • Health
    • History and Humanities
    • Space & Astronomy
    • Culture
    • Technology
    • Resources
  • Reviews
  • More
    • Agriculture
    • Anthropology
    • Biology
    • Chemistry
    • Electronics
    • Geology
    • History
    • Mathematics
    • Nanotechnology
    • Economics
    • Paleontology
    • Physics
    • Psychology
    • Robotics
  • About Us
    • About
    • The Team
    • Advertise
    • Contribute
    • Privacy Policy
    • Contact

© 2007-2021 ZME Science - Not exactly rocket science. All Rights Reserved.

Don’t you want to get smarter every day?

YES, sign me up!

Over 35,000 subscribers can’t be wrong. Don’t worry, we never spam. By signing up you agree to our privacy policy.

✕
ZME Science News

FREE
VIEW