PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

Australian biobank aims to discover new treatments for children with genetic muscle diseases

2023-09-20
(Press-News.org)

An Australian-first biobank will be established to improve and discover new treatments for children with genetic muscle diseases.

The National Muscle Disease Bio-databank, co-led by Murdoch Children’s Research Institute, Monash University and Alfred Health, will advance research into understanding why children develop genetic muscle diseases. The project forms part of a $2.5 million Medical Research Future Fund grant awarded to the team for research into congenital muscle diseases.

These diseases, spanning dystrophies and myopathies, are characterised by severe muscle weakness, usually from infancy, that can impact swallowing, breathing and lead to eye problems and learning difficulties. About 30 people a year are diagnosed with a congenital muscular disease in Australia of which half will have a genetic basis identified.

Murdoch Children’s Dr Peter Houweling said there was an unmet need for affordable treatments that could be fast-tracked into clinical trials.

“Knowledge is limited because Australia lacks a dedicated databank for congenital muscle disorders,” he said. Each state undertakes genetic testing via local services but there is no national database that matches clinical information with genetic diagnosis.” 

To address this, the biobanking facility housed at Murdoch Children’s will collect patient information and store blood test and skin biopsy samples from children across Australia with genetic muscle disease.

“To understand how muscle is affected by disease, our research team will study the genes, cells and proteins in patient samples using cutting edge technologies,” he said. This bio-databank will advance our knowledge of disease mechanisms and has the real potential to discover new and better treatments and fast-track discoveries.” 

Monash University’s Professor Peter Currie said genetic muscle disorders have one of the highest disease burdens, greater than that of cancer and multiple sclerosis and greater per case than any other disease.

“The financial cost per year for genetic therapies and loss of productivity for those with muscular dystrophy is $435 million due to a lack of effective treatments,” he said. For decades, treatments have remained unaffordable for most families and is primarily palliative aimed at maintaining mobility, respiratory and cardiac functions.

“Congenital muscle diseases are also arguably the most individually impactful with many patients having a poor prognosis, requiring lifelong supportive care including mobility and respiratory support and in severe cases are inevitably fatal.”

Alfred Health’s Professor Catriona McLean said a major hurdle to advancing outcomes was understanding the underlying molecular basis of the diseases, coupled with a need for patient-specific models to develop and test therapies.

“Despite almost two decades of genomic diagnostics in the clinic, patients and families are still left with few answers and ineffective treatment options for disorders that can be fatal in infancy or early childhood,” she said.

“Much of this clinical uncertainty stems from a lack of insight into the disease, which requires innovative thinking and investment into additional programs that can advance beyond genomics.” 

Bindushree Pathre’s daughter Ivani, 4, was diagnosed with congenital muscular dystrophy at four months of age.

“As a newborn she started to lose weight, couldn’t suck and was very lethargic,” she said. We were shattered when genetic testing confirmed the muscular dystrophy diagnosis. We have no idea how long her life expectancy will be so we have to take one day at a time and cherish every moment.”

Bindushree said with Ivani’s weak muscles and comprised immune system they avoided situations where Ivani could pick up respiratory infections.

“We are on high alert for anything that could make Ivani sick,” she said. We haven’t travelled back to India to see family since she was born because we don’t want to risk any health issues. She is immobile and will eventually need a wheelchair. She doesn’t have the strength to feed herself or even open the cap off a pen. But despite her challenges she tries her best to be independent.”

Bindushree said her daughter had weekly therapy sessions including physiotherapy, hydrotherapy and speech therapy and may require surgery when she’s older.

But she said the muscle disease biobank gave her hope that new treatments could be developed.

“Muscular dystrophy is poorly understood and there isn’t enough awareness,” she said. This biobank gives me hope for my daughter, and if not, hopefully for another family in the future. I wish one day that no other parent has to hear their child has muscular dystrophy and watch as their condition keeps getting worse as they age with no treatment available. It's heartbreaking and no parent should have to endure that pain.”  

A national, multidisciplinary network including paediatric neurologists, pathologists, scientists and patient advocacy groups have been assembled for the biobank project. Key collaborators include the Australian Neuromuscular Disease Registry, the Women’s and Children’s Hospital in Adelaide, Monash Health, the University of Melbourne, The Royal Children’s Hospital, Children’s Health Queensland, Sydney Children's Hospitals Network, The Harry Perkins Institute in Western Australia, Muscular Dystrophy Australia and the Fred Liuzzi Foundation.

To contact the muscle disease biobank team visit nmdb.org.au/contact, email info@nmdb.org.au or for more information visit www.monash.edu/medicine/adapt-cmd/for-patients

Available for interview:

Dr Peter Houweling, Murdoch Children’s Team Leader, Muscle Research
Professor Peter Currie, Monash University Director of Research, Australian Regenerative Medicine Institute
Professor Catriona McLean, Alfred Health’s Head of the Department of Anatomical Pathology
Bindushree Pathre whose daughter Ivani, 4, has congenital muscular dystrophy 

END



ELSE PRESS RELEASES FROM THIS DATE:

A study published in Chinese Medical Journal reveals potential of methotrexate to treat liver cancer

A study published in Chinese Medical Journal reveals potential of methotrexate to treat liver cancer
2023-09-20
Liver cancer is one of the most prevalent and deadly types of cancer worldwide. Most patients are diagnosed at an advanced stage, which leaves them with few treatment options. Unfortunately, the first-line drugs used in advanced hepatocellular carcinoma (HCC), the most common type of liver cancer, are not very effective and offer only modest clinical benefits. Over the past few years, scientists have been trying to develop new therapies for HCC by analyzing specific genetic abnormalities and the ways in which they affect the manifestation and progression of the disease. One of the most common mutations in HCC ...

State Council in Virginia approves new UVA Data Science Major

2023-09-20
The State Council of Higher Education for Virginia (SCHEV) approved Tuesday the creation of an undergraduate major for the University of Virginia’s School of Data Science, a landmark development for the four-year-old school, which was the first of its kind in the nation. Prior to Tuesday’s announcement, undergraduates could obtain a minor in data science, while graduate students could pursue master’s or doctoral degrees. Now, the establishment of the B.S. in Data Science will allow UVA’s undergraduates to focus their studies on this emerging and growing interdisciplinary field. “The B.S. in Data Science major is a major milestone ...

A newly identified virus emerges from the deep

2023-09-20
Highlights: Organisms, including viruses, live in the deepest, darkest places on the planet Marine virologists analyzed sediment from the Mariana Trench, the deepest place on Earth, and identified a new bacteriophage The phage infects Halomonas bacteria, which have been found in deep-sea environments and near hydrothermal vents The study helps probe how phages and hosts evolve together in secluded, hostile environments Washington, D.C. —  The Mariana Trench, the deepest place on Earth, plunges nearly 11,000 meters at its lowest point on the floor ...

Black holes eat faster than previously expected

Black holes eat faster than previously expected
2023-09-20
A new Northwestern University-led study is changing the way astrophysicists understand the eating habits of supermassive black holes. While previous researchers have hypothesized that black holes eat slowly, new simulations indicate that black holes scarf food much faster than conventional understanding suggests. The study will be published on Wednesday (Sept. 20) in The Astrophysical Journal. According to new high-resolution 3D simulations, spinning black holes twist up the surrounding space-time, ultimately ripping apart ...

FAU receives $1.3 million grant for Alzheimer’s outreach in Broward County

FAU receives $1.3 million grant for Alzheimer’s outreach in Broward County
2023-09-20
Florida Atlantic University’s María de los Ángeles Ortega, DNP, APRN, in the Christine E. Lynn College of Nursing, has been awarded a three-year, $1.3 million grant from the Administration for Community Living’s (ACL) Alzheimer’s Disease Program Initiative for a groundbreaking project designed to advance health equity and improve quality of life for individuals living with or at high risk for Alzheimer’s disease and related dementias (ADRD) and their family caregivers. ACL was created around the fundamental principle that all people, regardless of age or disability, should be able to live independently ...

New Si-based photocatalyst enables efficient solar-driven hydrogen production and biomass refinery

New Si-based photocatalyst enables efficient solar-driven hydrogen production and biomass refinery
2023-09-20
A team of researchers, led by Professor Jungki Ryu in the School of Energy and Chemical Engineering at UNIST and Professor Soojin Park from Pohang University of Science and Technology (POSTECH), have achieved a significant breakthrough in the development of a hybrid silicon photocatalyst. This innovative catalyst utilizes solar power to produce hydrogen and high-value compounds efficiently, marking a major step forward in green hydrogen production technology. The newly developed photocatalyst is both non-toxic and eco-friendly, addressing the limitations associated with ...

Chameleon-inspired coating could cool and warm buildings through the seasons

2023-09-20
As summer turns to fall, many people will be turning off the air conditioning and firing up heaters instead. But traditional heating and cooling systems are energy intensive, and because they typically run on fossil fuels, they aren’t sustainable. Now, by mimicking a desert-dwelling chameleon, a team reporting in ACS’ Nano Letters has developed an energy-efficient, cost-effective coating. The material could keep buildings cool in the summers — or warm in the winters — without additional energy. Many ...

Effective visual communication of climate change

Effective visual communication of climate change
2023-09-20
Boulder, Colo., USA: The consequences of a warming climate frequently dominated the news this summer, from devastating wildfires and floods to deadly heat waves across the globe. Reducing harm from climate change is a challenging endeavor, and it requires comprehensive public education. Thus, the question arises: How can climate change science be made most accessible to the general population, as well as decision-makers and educators? In a new paper published in the journal Geosphere, Steph Courtney and Karen McNeal explore the effects ...

Clinical trial of HIV vaccine begins in United States and South Africa

Clinical trial of HIV vaccine begins in United States and South Africa
2023-09-20
WHAT: A trial of a preventive HIV vaccine candidate has begun enrollment in the United States and South Africa. The Phase 1 trial will evaluate a novel vaccine known as VIR-1388 for its safety and ability to induce an HIV-specific immune response in people. The National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, has provided scientific and financial support throughout the lifecycle of this HIV vaccine concept and is contributing funding for this study.  VIR-1388 is designed to instruct the ...

Five new health systems partner with American Thoracic Society on vaccine initiative

Five new health systems partner with American Thoracic Society on vaccine initiative
2023-09-20
NEW YORK, NY – Sept. 20, 2023 – As cities brace for a confluence of flu, COVID-19, pneumonia, and RSV infections this fall, the American Thoracic Society announced that five new health systems have partnered with the Society to improve vaccination rates.  Grady Health System (Atlanta, GA), Meharry Medical College (Nashville, TN), St. Luke’s Health System (Boise, ID), the University of Colorado (Aurora, CO), and Wayne Health (Detroit, MI) join the University of Arizona/ Banner Health, West Virginia University Hospitals, Inc., and San Francisco Health Network/ University of California to help identify barriers to vaccination and find ...

LAST 30 PRESS RELEASES:

Premenstrual symptoms linked to increased risk of cardiovascular disease

Newly discovered remains of ancient river landscapes control ice flow in East Antarctica

Newly discovered interstellar object 'may be oldest comet ever seen'

Animal-inspired AI robot learns to navigate unfamiliar terrain

Underserved youth less likely to visit emergency department for concussion in Ontario, study finds

‘Molecular shield’ placed in the nose may soon treat common hay fever trigger

Beetles under climate stress lay larger male eggs: Wolbachia infection drives adaptive reproduction strategy in response to rising temperature and CO₂

Groundbreaking quantum study puts wave-particle duality to work

Weekly injection could be life changing for Parkinson’s patients

Toxic metals linked to impaired growth in infants in Guatemala

Being consistently physically active in adulthood linked to 30–40% lower risk of death

Nerve pain drug gabapentin linked to increased dementia, cognitive impairment risks

Children’s social care involvement common to nearly third of UK mums who died during perinatal period

‘Support, not judgement’: Study explores links between children’s social care involvement and maternal deaths

Ethnic minority and poorer children more likely to die in intensive care

Major progress in fertility preservation after treatment for cancer of the lymphatic system

Fewer complications after additional ultrasound in pregnant women who feel less fetal movement

Environmental impact of common pesticides seriously underestimated

The Milky Way could be teeming with more satellite galaxies than previously thought

New study reveals surprising reproductive secrets of a cricket-hunting parasitoid fly

Media Tip Sheet: Symposia at ESA2025

NSF CAREER Award will power UVA engineer’s research to improve drug purification

Tiny parasitoid flies show how early-life competition shapes adult success

New coating for glass promises energy-saving windows

Green spaces boost children’s cognitive skills and strengthen family well-being

Ancient trees dying faster than expected in Eastern Oregon

Study findings help hone precision of proven CVD risk tool

Most patients with advanced melanoma who received pre-surgical immunotherapy remain alive and disease free four years later

Introducing BioEmu: A generative AI Model that enables high-speed and accurate prediction of protein structural ensembles

Replacing mutated microglia with healthy microglia halts progression of genetic neurological disease in mice and humans

[Press-News.org] Australian biobank aims to discover new treatments for children with genetic muscle diseases