Trending...
- "Army of Liars" Exposes How Social Media Profits from Disinformation
- SafeTea Launches App to Safeguard Women
- Celebrate Grandparents Day with For the Grandchildren, Volume I – A Heartfelt Collection of Elder Wisdom and Life Lessons
Western Australian researchers have discovered the genetic cause of a rare muscle disease that causes muscle weakness, droopy eyelids and difficulty swallowing.
NEDLANDS, Australia - AussieJournal -- Researchers at the Harry Perkins Institute of Medical Research and The University of Western Australia (UWA) have discovered the genetic cause of a rare muscle disease that causes muscle weakness, droopy eyelids and difficulty swallowing.
The disease, known as oculopharyngodistal myopathy (OPDM), is an inherited muscle disease. Genes associated with OPDM had only been identified previously in Asian populations.
This week, Perkins researchers in the Rare Disease Genetics and Functional Genomics Group (https://perkins.org.au/research/labs/genome-bio...), led by Associate Professor Gina Ravenscroft (https://perkins.org.au/person/gina-ravenscroft-2/), and the Preventative Genetics Group (https://perkins.org.au/research/labs/genome-bio...), led by Emeritus Professor Nigel Laing AO, published findings from an international world-leading study that identified the genetic cause of OPDM in people of European descent.
More on Aussie Journal
The researchers discovered that a specific type of mutation, an expansion of a repeat sequence, in the ABCD3 gene triggers a cascade of cellular issues that ultimately leads to muscle degeneration. These repeat expansions have been difficult to pinpoint, but new technologies and computer tools have enabled researchers to more easily find these repeat expansions that cause disease.
"It is so important to study genetic variations across different populations. Discovering that the ABCD3 gene was the cause of OPDM in Europeans adds to the understanding of this disease and opens the door for researchers to explore potential treatments for this and similar muscle diseases," Associate Professor Gina Ravenscroft said.
"Identifying disease-causing genes for families is so rewarding, often families experience these life-changing symptoms and many never get answers about the cause of their disorder. For some families this has ended a very long diagnostic odyssey, with DNA samples first received almost 30 years ago."
There are more than 10,000 distinct rare diseases, 70% of which start in childhood. Most of these diseases have a genetic origin, and families must rely on medical researchers to find the disease-gene needle in their DNA haystack.
More on Aussie Journal
"Rare diseases impact around 1 in 10 people and these families can go a lifetime without answers. By finding the genetic cause, we can give families a better understanding of the disease progression, their likelihood of passing it on, and importantly it offers the possibility of finding new treatments or cures one day," Associate Professor Ravenscroft said.
The study was published this week in Nature Communications. (https://www.nature.com/articles/s41467-024-49950-2)
The disease, known as oculopharyngodistal myopathy (OPDM), is an inherited muscle disease. Genes associated with OPDM had only been identified previously in Asian populations.
This week, Perkins researchers in the Rare Disease Genetics and Functional Genomics Group (https://perkins.org.au/research/labs/genome-bio...), led by Associate Professor Gina Ravenscroft (https://perkins.org.au/person/gina-ravenscroft-2/), and the Preventative Genetics Group (https://perkins.org.au/research/labs/genome-bio...), led by Emeritus Professor Nigel Laing AO, published findings from an international world-leading study that identified the genetic cause of OPDM in people of European descent.
More on Aussie Journal
- Enhancing Academic Performance with Business Law Assignment Help
- HACKXCEL Training & Consultancy: A Beacon of Hope and Empowerment in EdTech
- Exciting News: OneKloudX CEO Robert Jurcec Named Finalist in Executive of the Year Awards
- Noizend Pty Ltd Receives Impact Technology Donation from Autodesk
- Green Office Partner Ranked #1 on Crain's 2024 List of Best Places to Work in Chicago
The researchers discovered that a specific type of mutation, an expansion of a repeat sequence, in the ABCD3 gene triggers a cascade of cellular issues that ultimately leads to muscle degeneration. These repeat expansions have been difficult to pinpoint, but new technologies and computer tools have enabled researchers to more easily find these repeat expansions that cause disease.
"It is so important to study genetic variations across different populations. Discovering that the ABCD3 gene was the cause of OPDM in Europeans adds to the understanding of this disease and opens the door for researchers to explore potential treatments for this and similar muscle diseases," Associate Professor Gina Ravenscroft said.
"Identifying disease-causing genes for families is so rewarding, often families experience these life-changing symptoms and many never get answers about the cause of their disorder. For some families this has ended a very long diagnostic odyssey, with DNA samples first received almost 30 years ago."
There are more than 10,000 distinct rare diseases, 70% of which start in childhood. Most of these diseases have a genetic origin, and families must rely on medical researchers to find the disease-gene needle in their DNA haystack.
More on Aussie Journal
- HACKXCEL: Revolutionizing Career Development with Innovative Vernacular-Based Training
- Diversified Industrial Acquisition Agreement, Plus Major Contract Award for Large Fleet Trucking Provider: MingZhu Logistics: Stock Symbol: YGMZ
- Messageware Z-Day Guard v1.5 Expands MDR Security to Azure, Exchange, and Windows Servers
- The Ripple Effect Arts, has launched its latest product, Organic Wild Yam Cream, capitalizing on the company's recent viral success on TikTok
- Prince of Eurasia: Monotheism and Devils — the ultrarare Eurasian theological documentary of executive producer Prince Oak Oakleyski
"Rare diseases impact around 1 in 10 people and these families can go a lifetime without answers. By finding the genetic cause, we can give families a better understanding of the disease progression, their likelihood of passing it on, and importantly it offers the possibility of finding new treatments or cures one day," Associate Professor Ravenscroft said.
The study was published this week in Nature Communications. (https://www.nature.com/articles/s41467-024-49950-2)
Source: Harry Perkins Institute of Medical Research
0 Comments
Latest on Aussie Journal
- Omnitronics Joins DAMM Application Partner Program
- The Farm Consultant Helping Hobby Farmers to Succeed
- The Light at the End of the Personal Injury Tunnel
- Award-winning and Renowned Voice Actor Nancy Cartwright to Deliver Keynote at the That's Voiceover Career Expo 2024 in Los Angeles
- "Army of Liars" Exposes How Social Media Profits from Disinformation
- Vantiva Demonstrates its Vision of the Connected Home of the Future with New Lineup of AI-Powered CPE at IBC 2024
- Challenge Arcade's World Record Weekend 2024
- Empowering Educators with AI: Goosechase and DIGITAL Partner for the Future of Interactive Experiences
- Join Us at the 136th Canton Fair from October 15th to 19th, 2024!
- A Circular Solution for Old Guitars
- Legendary Aviation Coffee Company Celebrates 2100% Growth with Exceptional Single-Origin Air-Roasted Coffee
- General Vincent Brooks (RET) Joins BEYA Stars and Stripes Committee as a Founder, Following 20 Years of Service by General Johnnie Wilson (RET)
- SafeTea Launches App to Safeguard Women
- Immigrant Artists Explore Cultural, Historical and Social Experiences in "Unlocked Identities" Exhibition
- Celebrate Grandparents Day with For the Grandchildren, Volume I – A Heartfelt Collection of Elder Wisdom and Life Lessons
- AdvisorVault's 17a-4 Managed 365 Service: Finally, Guaranteed FINRA Compliance On The Microsoft Cloud
- College Campus Safety: The Importance of Self Defense Keychains for Women
- Melbourne Aircon Specialist Leading Experts in Heat Pump Installation for Bendigo
- Climate Green Offers Professional Heat Pump Installation Services in Melbourne
- Energies Media: Unifying Insights Across the Energy Spectrum