• Email Us: [email protected]
  • Contact Us: +1 718 874 1545
  • Skip to main content
  • Skip to primary sidebar

Medical Market Report

  • Home
  • All Reports
  • About Us
  • Contact Us

Rare Disorder Causing Extra Fingers And Toes Identified From DNA Differences

February 1, 2024 by Deborah Bloomfield

By comparing the DNA of individuals born with a range of birth defects, including extra fingers and toes, researchers have identified a new rare disorder and with it, opened up an avenue towards improved diagnosis and treatment.

The findings were described in a study that examined three children sharing a rare combination of traits: polydactyly, more often known as extra fingers and/or toes; a larger than average head circumference; and delayed development of their eyes.

Advertisement

These features suggested the young patients may share a disorder, although what had caused it was unknown. Researchers set to analyzing their DNA, which revealed all three had the same mutation in a gene called MAX. It’s a gene that encodes a protein known as a transcription factor, a molecule that’s involved in copying DNA into RNA.

Identifying this mutation means that it could be easier to diagnose others with the disorder in future, study co-lead, Dr James Poulter, explained in a statement. “Other patients with a similar combination of features can be tested to see if they have the same variant we have identified in our study.”

Poulter added: “Currently there are no treatments for these patients. This means that our research into rare conditions is not only important to help us understand them better, but also to identify potential ways to treat them.”

On that front, the study succeeded. The team identified a molecule that could be used to prevent worsening of the disorder and treat its neurological symptoms, though this would require extensive research before becoming an approved treatment. It helps that it’s already in clinical trials for another disorder, “meaning we could fast track this for these patients if our research finds the drug reverses some of the effects of the mutation,” according to Poulter.

Advertisement

Although a treatment may still be a while off, the authors plan to further investigate the MAX mutation and are keen to highlight the importance of this kind of research, which often gives patients and their families long-awaited answers. For example, the study used data from the Deciphering Developmental Disorders study, a UK-based project that’s led to a multitude of diagnoses for patients with rare diseases.

“These are often under-represented conditions that have a huge impact on patients and their families. These families go through a long and complex diagnostic odyssey. The time from their first doctor’s visit as babies to getting a diagnosis can take more than 10 years,” Poulter explained.

“It is important that these patients and their families discover the cause of their condition – and if they can access a therapy based on their genetic diagnosis, that could be life changing.”

The study is published in the American Journal of Human Genetics.

Deborah Bloomfield
Deborah Bloomfield

Related posts:

  1. Taliban say they have entered capital of holdout Afghan region
  2. Over 60 S.Korean crypto exchanges set to suspend services next week
  3. Analysis: Zoom’s abandoned Five9 deal shows hurdles to expansion
  4. What Is The OMAD Diet And Does It Work?

Source Link: Rare Disorder Causing Extra Fingers And Toes Identified From DNA Differences

Filed Under: News

Primary Sidebar

  • Shockingly High Microplastic Levels Found On Remote Mediterranean Coral Reef Island
  • Interstellar Object, Cheesy Nightmares, And Smooching Orcas
  • World’s Largest Martian Meteorite Up For Auction Could Reach Whopping $2-4 Million
  • Kimalu The Beluga Whale Undergoes Pioneering Surgery And Becomes First Beluga To Survive General Aesthetic
  • The 1986 Soviet Space Mission That’s Never Been Repeated: Mir To Salyut And Back Again
  • Grisly Incident In Yellowstone National Park Shows Just How Dangerous This Vibrant Wilderness Can Be
  • Out Of All Greenhouse Gas Emitters On Earth, One US Organization Takes The Biscuit
  • Overly Ambitious Adder Attempts To Eat Hare 10 Times Its Mass In Gnarly Video
  • How Fast Does A Spacecraft Need To Go To Escape The Solar System?
  • President Trump’s Cuts To USAID Could Result In A “Staggering” 14 Million Avoidable Deaths By 2030
  • Dzo: Hybrids Beasts That Are Perfectly Crafted For Life On Earth’s Highest Mountains
  • “Rarest Event Ever” Had A Half-Life 1 Trillion Times Longer Than The Age Of The Universe – How Did We See It?
  • Meet The Bille, A Self-Righting Tetrahedron That Nobody Was Sure Could Exist
  • Neurogenesis Confirmed: Adult Brains Really Do Make New Hippocampal Neurons
  • RFK Jr Suggested Letting Bird Flu Run Through Farms – Experts Still Think It’s A Bad Idea
  • “For Unknown Reasons”: Mystery Of The Oldest Human Remains Ever Found In Antarctica
  • Alaska’s Wilderness At Risk As Trump Opens “Up To 82 Percent” Of National Reserve To Drilling
  • “Life-Changing” Gene Therapy Restores Hearing In Deaf Patients Within Weeks After Just One Shot
  • Man Broke Down Wall In His Basement And Discovered An Ancient Underground City That Once Housed 20,000 People
  • Same-Sex Penguin Couple Adopt And Raise Chick – And They’ve All Got 10/10 Names
  • Business
  • Health
  • News
  • Science
  • Technology
  • +1 718 874 1545
  • +91 78878 22626
  • [email protected]
Office Address
Prudour Pvt. Ltd. 420 Lexington Avenue Suite 300 New York City, NY 10170.

Powered by Prudour Network

Copyrights © 2025 · Medical Market Report. All Rights Reserved.

Go to mobile version