How AI Is Using Facial Detection To Spot Rare Diseases In Children🧒

Feb 28, 2023

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I. Spotlight: How AI Is Using Facial Detection To Spot Rare Diseases In Children🧒

Andrew was playing under the summer sun in the backyard. As the four-year-old’s parents watched, they noticed something seemed off. Perhaps it was his unusually small head or the after-effects of the surgery to correct his congenital disorder.

When Andrew’s parents consulted Dr. Karen Gripp, Professor of Pediatrics at Nemours Children’s Hospital, she decided to investigate. In addition to conventional procedures, she ran a quick diagnosis on Face2Gene, a computer vision-powered app that looks for indications of rare diseases. The facial picture uploaded to the app showed a strong match for Smith-Lemli-Opitz syndrome (SLO), a rare disease that affects about 1 in 40,000 children.

“The family was under the impression that this condition had been ruled out,” says Dr. Gripp. Subsequent tests confirmed the genetic diagnosis. Andrew’s facial features suggested a mild form of SLO. Although this came as a shock to his parents, Andrew was swiftly admitted to a metabolic disease clinic and put on the appropriate nutrition and medication.

Photo by Jackson Sophat on Unsplash

“The family is thankful that they have a clear diagnosis that explains his ongoing behavioral and learning challenges,” adds Dr. Gripp. They are now aware that SLO has a 25% recurrence risk in the family.

There are over 10,000 rare diseases, and 75% of them affect children. About one-third of these children won’t live to see their fifth birthday. Rare diseases don’t draw much attention, and their detection is painfully challenging.

In Andrew’s case, the breakthrough came with the rapid diagnosis, thanks to the Artificial Intelligence-powered (AI)…

II. Industry Roundup:

1. Article: Ultromics' ultrasound AI gets FDA clearance for spotting heart failure

02 minutes | Fierce Biotech | Conor Hale

Ultromics’ EchoGo is an AI-based program that detects heart failure with preserved ejection fraction (HFpEF). The program uses AI to analyze images from an echocardiogram for subtle signs of muscle strain or higher blood pressure within the heart’s chambers. The company said its AI correctly identified 68% more HFpEF patients compared to traditional clinical algorithms.

-> Read the Article

2. Article: How Truist CDO Tracy Daniels Adds Value To Her Organization

05 minutes | Forbes | Tom Davenport

In this article, Tracy Daniels, the Chief Data Officer (CDO) of Truist Bank talks about her role. She shares that up to 40% of her time goes into addressing ‘defense’ issues like data protection, risk avoidance, and regulatory compliance. Read on to find why data can’t be effectively leveraged without senior data executives leading the charge.

-> Read the Article

III. From my Desk:

1. Update: Teaching Business Analytics at NJIT’s Business School

1 min | LinkedIn

I've started teaching Business Analytics at New Jersey Institute of Technology's B-School this Spring! I'm thrilled to learn, share, & interact with students. In this post, I share 5 key priorities I built into the course. It's been over a month, but I already have lots of notes to improve this business course in the coming semesters. What stands out to you, and what will you change?

-> Read the Post

2. Video: Do you need a big budget for innovation?

1 min | LinkedIn

Do you need a big budget for innovation? No. In this video, I share how you can start innovating today with the team you've staffed and the tools you already have. How are you transforming your business with data and analytics?

-> Watch the Video

Here’s how AI-enabled real-time video can transform our meetings!

Thank you for subscribing and reading the newsletter. I appreciate your attention,

Ganes.

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I’m Ganes Kesari. I publish ‘Data-Driven Future’ to help understand how data shapes our world, explore key trends, and explain what they mean for you today. I speak and write to demystify data science for decision-makers and organizations.

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