• Feedback
  • RSS Feed
  • Sitemap
Ommcom News
  • Home
  • Odisha
  • Nation
  • World
  • Sports
  • Business
  • Entertainment
  • Videos
  • Science & Tech
  • Photo Gallery
  • ଓଡ଼ିଆରେ ପଢନ୍ତୁ
No Result
View All Result
  • Home
  • Odisha
  • Nation
  • World
  • Sports
  • Business
  • Entertainment
  • Videos
  • Science & Tech
  • Photo Gallery
  • ଓଡ଼ିଆରେ ପଢନ୍ତୁ
No Result
View All Result
Odisha News, Odisha Breaking News, Odisha Latest News || Ommcom News
Home Nation

New Blood Test To Rapidly Diagnose Thousands Of Rare Genetic Diseases In Kids

OMMCOM NEWS by OMMCOM NEWS
May 26, 2025
in Nation

New Delhi: Australian researchers have developed a new, rapid testing method to help diagnose rare diseases in babies and children.

There are more than 7,000 types of disease caused by mutations in more than 5,000 known genes, affecting approximately 300 million individuals worldwide.

Currently, about half of all patients with a suspected rare disease remain undiagnosed, and existing testing methods for undiagnosed conditions are typically slow.

Researchers from the University of Melbourne developed a new blood-based method of analysing thousands of proteins in a single, untargeted test.

The DNA sequence of most genes is the code to produce proteins, the molecular machines of our cells and tissues, said Dr. Daniella Hock, a Senior Postdoctoral student at the varsity, while presenting the research at the annual conference of the European Society of Human Genetics in Germany.

“Our new test can identify more than 8,000 proteins in peripheral blood mononuclear cells (PBMCs) covering more than 50 per cent of known Mendelian and mitochondrial disease genes, as well as enable us to discover new disease genes,” Hock said.

The new test is unique as it sequences proteins rather than the genes themselves, and the data can help understand how changes in the gene sequence affect its corresponding protein’s function and lead to disease.

It applies to potentially thousands of different diseases, and it can even be used to detect new ones by providing the evidence needed to confirm that a genetic change is the likely cause of the disease.

Importantly, the proteomic test is minimally invasive, requiring only 1 ml of blood from infants and with results available in under three days for patients in acute care.

“When the test is also performed on blood samples from parents, we call it trio analysis. In recessively inherited conditions, this helps considerably in differentiating between carriers, who only have one copy of the defective gene, and the affected individual who carries two copies,” Hock said.

Besides early detection and hope of better outcomes, replacing a battery of targeted tests with a single analysis can also cut down costs for patients as well as for healthcare systems.

(IANS)

Tags: Blood TestDaniella Hockperipheral blood mononuclear cells (PBMCs)
ShareTweetSendSharePinShareSend
Previous Post

Dreaded Maoist With Rs 5 Lakh Bounty Gunned Down In Encounter In Jharkhand

Next Post

Barca End Season With A Win As Athletic Bilbao Says Goodbye To De Marcos

Related Posts

Nation

‘Deeply Motivating’: PM Modi On Life Journeys Of Padma Awardees

May 27, 2025
Nation

Terrorism Biggest Threat To Civilisation And Human Development: Om Birla

May 27, 2025
Nation

Tribal Woman Gang Rape: MP Human Rights Commission Demands Detail Reply

May 27, 2025
Nation

Op Sindoor Changed Our Mindset, We Are Now Nationalistic As Never Before: V-P Dhankhar

May 27, 2025
Nation

‘Despite Warnings, They Continued With Anti-Party Activities’: Karnataka BJP Welcomes Expulsion Of Two MLAs

May 27, 2025
Nation

MHA, COCOMI Hold Talks In Delhi; Meitei Body Vows To Help Restore Peace In Manipur

May 27, 2025
Next Post

Barca End Season With A Win As Athletic Bilbao Says Goodbye To De Marcos

Four Arrested For Attack On Journalist In Bolangir

Bumper RBI Dividend To Give Extra 0.15 Pc Fiscal Boost To GDP: Report

Khimji
  • Feedback
  • RSS Feed
  • Sitemap

© 2025 - Ommcom News. All Rights Reserved.

Welcome Back!

Login to your account below

Forgotten Password?

Retrieve your password

Please enter your username or email address to reset your password.

Log In

Add New Playlist

No Result
View All Result
  • Home
  • Odisha
  • Nation
  • World
  • Sports
  • Business
  • Entertainment
  • Videos
  • Science & Tech
  • Photo Gallery
  • ଓଡ଼ିଆରେ ପଢନ୍ତୁ

© 2025 - Ommcom News. All Rights Reserved.