Doctors faced with the tricky task of spotting rare genetic diseases in children may soon be asking parents to email their family photos.
A computer program can now learn to identify rare conditions by analysing a face from an ordinary digital photograph. It should even be able to identify unknown genetic disorders if groups of photos in its database share specific facial features.
Rare genetic disorders are thought to affect 6 per cent of people. Genetic tests exist for the more common conditions such as Down’s syndrome, but many people with the rarer disorders never get a proper clinical diagnosis. Genetic tests aren’t available for many conditions because the gene variants that cause them haven’t been identified. This means doctors often have to rely on the pronounced facial features that occur in between 30 and 40 per cent of rare disorders to make a diagnosis, but few people are trained to recognise them.
“Clinicians skilled in the use of facial features to support diagnosis are few and far between,” says Alastair Kent, director of the charity Genetic Alliance UK. “As a result, families frequently experience long delays – years rather than months – before they receive a diagnosis for their child.”
Read more . . .
The Latest on: Rare genetic disease diagnosis
[google_news title=”” keyword=”Rare genetic disease diagnosis” num_posts=”10″ blurb_length=”0″ show_thumb=”left”]
via Google News
The Latest on: Rare genetic disease diagnosis
- Ehlers-Danlos one of rare diseases task force focused onon May 8, 2024 at 10:30 am
Rare diseases often get overlooked by researchers, but when a family member is diagnosed with one, the issue becomes a dominant focus.
- Research shows fetal ear shape may indicate rare genetic conditionon May 7, 2024 at 12:06 pm
First linked to mutations in the CHD7 gene in 2004, CHARGE syndrome is a rare genetic disorder occurring in approximately 1 in 8,500 to 15,000 births. According to the National Institute of Health ...
- Mom Seeks Cure for 3-Year-Old Daughter's Rare Genetic Disorder: ‘I Want to Work as Hard as She Does’ (Exclusive)on May 7, 2024 at 8:36 am
Bridget Finn’s daughter, Flo, was born with a rare genetic mutation, STXBP1 — but the family has put their "grief" into action with a powerful fundraising effort.
- AI may help diagnose rare diseases years earlieron May 3, 2024 at 10:47 am
Artificial intelligence might be able to identify patients who have rare diseases years earlier than they would typically be diagnosed, a new study says.
- AI May Boost Diagnosis of Rare Genetic Disorderson May 1, 2024 at 11:30 pm
A random-forest, machine-learning classifier, artificial intelligence-Model organism Aggregated Resources for Rare Variant ExpLoration (AI-MARRVEL), achieves superior accuracy compared with existing ...
- Genetic Enigma Solved – Scientists Unravel Cause of Rare Neurological Disease After 25 Years of Researchon May 1, 2024 at 3:26 pm
Some families call it as a test of faith, while others deem it a curse. Spinocerebellar ataxia 4 (SCA4), a rare but progressive neurological disorder, has profound impacts on both patients and their ...
- Newborn twins fight rare disease, family says it’ll cost $4.2 million to save their liveson April 30, 2024 at 10:27 am
They said the boys have a rare genetic disease that will cost the family ... Zolgensma, before their symptoms start, like our boys’ symptoms haven’t started yet, studies show they’re living ...
- Newborn twins fight rare genetic disease, family says it’ll cost millions of dollars to save their liveson April 30, 2024 at 6:52 am
New parents are fighting to save the lives of their newborn twins. The boys have a rare genetic disease, and to treat it, it’s going to cost the family millions of dollars.Amanda Reed gave birth to ...
- After 25 years, researchers uncover genetic cause of rare neurological diseaseon April 29, 2024 at 2:00 am
Some families call it a trial of faith. Others just call it a curse. The progressive neurological disease known as spinocerebellar ataxia 4 (SCA4) is a rare condition, but its effects on patients and ...
via Bing News