Roche (SIX: RO, ROG; OTCQX: RHHBY), announced that the U.S. Food and Drug Administration (FDA) has approved a New Drug Application (NDA) for an Evrysdi® (risdiplam) tablet for people living with spinal muscular atrophy (SMA). Evrysdi is the only non-invasive disease-modifying treatment for SMA. The 5 mg Evrysdi tablet can either be swallowed whole or dispersed in water.

For the average person, living at high altitude - where oxygen is sparser than at sea level - can have health benefits ranging from lower rates of heart disease to increased endurance. But for those born with inherited mitochondrial diseases, who rarely survive past childhood, low-oxygen air like that found at mountain peaks could be life-saving, potentially extending their lifespan and eliminating their symptoms.

AskBio Inc. (AskBio), a gene therapy company wholly owned and independently operated as a subsidiary of Bayer AG, today announced that investigational gene therapy AB-1005 for the treatment of Parkinson's disease (PD) has been granted Regenerative Medicine Advanced Therapy (RMAT) designation from the United States Food and Drug Administration (FDA).

A research team co-led by scientists at the University of Arizona College of Medicine - Tucson found that an osteoporosis drug might counter a rare genetic mutation underlying a type of heart disease. The results were published today in the Journal of Clinical Investigation and could have implications for treating other rare diseases.

Dilated cardiomyopathy is a group of disorders defined by weak cardiac muscles.

Scientists at the Yong Loo Lin School of Medicine, National University of Singapore (NUS Medicine) have developed a ground-breaking technique to deliver therapeutic molecules directly to the brain, bypassing the blood-brain barrier.

Led by Dr Haosheng Shen, lead researcher from the Synthetic Biology Translational Research Programme, NUS Medicine and the NUS Synthetic Biology for Clinical and Technological Innovation (SynCTI) this novel approach utilises a naturally occurring nasal bacterium, Lactobacillus plantarum (Lp),

When a tumour develops, it creates a structure around itself called the tumour stroma, within which blood and lymphatic vessels ensure nutritional and respiratory biological exchanges. Lymphangiogenesis, i.e. the development of lymphatic vessels, is generally associated with a poor prognosis, as it favours the spread of metastases to other organs. By studying the cells that make up the wall of lymphatic vessels, a team from the University of Geneva (UNIGE) has made an unexpected discovery: an enzyme they express appears to play a key role in supporting immune cells, particularly when they are activated by anti-tumour treatments.

Physical activity is not only important for fitness, but also for health. This is confirmed by a new study conducted under the direction of Prof. Dr. Maximilian Kleinert at the German Institute of Human Nutrition Potsdam-Rehbrücke (DIfE). His team discovered that the protein PanK4 plays a crucial role in the energy metabolism of skeletal muscles. It regulates glucose uptake and fatty acid oxidation and is activated by physical exercise. The study suggests that PanK4 could be a promising approach for the treatment of metabolic diseases such as type 2 diabetes.

Antibiotics are indispensable for treating bacterial infections. But why are they sometimes ineffective, even when the bacteria are not resistant? In their latest study published in the journal Nature, researchers from the University of Basel challenge the conventional view that a small subset of particularly resilient bacteria are responsible for the failure of antibiotic therapies.

In certain infectious diseases caused by bacteria, antibiotics are less effective than expected. One example is infections caused by Salmonella bacteria, which can lead to illnesses such as typhoid fever.

Doctors at Queen Mary University of London, Barts Health NHS Trust, and University College London have led the development of a simple, minimally invasive Targeted Thermal Therapy (Triple T) that has the potential to transform medical management of a common, but commonly overlooked, cause of high blood pressure.

This breakthrough, published today in The Lancet, could, after further testing, help millions of people worldwide who currently go undiagnosed and untreated.

An antibiotic used to treat infective diarrhoea could be an effective drug for a type of inflammatory bowel disease, a new study has found.

Results published in the Journal of Crohn's and Colitis revealed that an antibiotic called vancomycin may also be effective in treating people who have a specific type of inflammatory bowel disease (IBD), which develops in the context of an incurable autoimmune liver disease called primary sclerosing cholangitis (PSC).

After combing through 4,000 existing medications, an artificial intelligence tool helped uncover one that saved the life of a patient with idiopathic multicentric Castleman's disease (iMCD). This rare disease has an especially poor survival rate and few treatment options. The patient could be the first of many to have their lives saved by an AI prediction system, which could potentially apply to other rare conditions.

Tuberculosis is a serious global health threat that infected more than 10 million people in 2022. Spread through the air and into the lungs, the pathogen that causes "TB" can lead to chronic cough, chest pains, fatigue, fever and weight loss. While infections are more extensive in other parts of the world, a serious tuberculosis outbreak currently unfolding in Kansas has led to two deaths and has become one of the largest on record in the United States.

Many people would like to delay or even stop the aging process. Previous clinical studies have shown that a reduced calorie intake can slow down the aging process in humans. Taking vitamin D or omega-3 fatty acids has also shown promising results in slowing biological aging in animals. However, it was unclear whether these measures would also work in humans.

Secondary prevention medications for cardiovascular diseases (CVD) are underused globally and additional strategies to increase their use are needed to improve CVD management and reduce premature mortality rates, according to study published today in JACC, the flagship journal of the American College of Cardiology. The study observed participants with CVD from 17 countries over 12 years and found that medication use remains low with little improvement.

For the last 10 years, the only effective treatment for hypophosphatasia (HPP) has been an enzyme replacement therapy that must be delivered by injection three-to-six times each week.

"It's been a tremendous success and has proven to be a lifesaving treatment," said José Luis Millán, PhD, professor in the Human Genetics Program at Sanford Burnham Prebys.

Antibiotic resistance is a global public health crisis responsible for more than a million deaths annually. By 2050, the World Health Organization estimates it could surpass cancer and heart disease as the leading cause of death as more bacteria develop defenses to the drugs designed to combat them.

Now Tulane University researchers have identified a unique genetic signature in bacteria that can predict their likelihood of developing antibiotic resistance, according to a new study published in Nature Communications.

Biomedical engineers at Duke University have developed an AI-based platform that designs short proteins, termed peptides, capable of binding and destroying previously undruggable disease-causing proteins. Inspired by OpenAI’s image generation model, their new algorithm can rapidly prioritize peptides for experimental testing.

The work appeared Jan. 22 in the journal Science Advances.

A natural compound derived from gut-friendly bacteria significantly slows the progression of vitiligo and may restore pigmentation, reports a new Northwestern University pre-clinical study in mice.

The findings could offer hope to millions affected by the autoimmune disease, which causes visible patches of skin discoloration and carries profound emotional and physical consequences.

Basal cell carcinomas, the most common form of skin cancer, occur in chronically sun-exposed areas such as the face. Locally advanced tumours in particular can be difficult to treat surgically. A research team from MedUni Vienna and University Hospital Vienna has now investigated the effectiveness of a new type of therapy and achieved promising results: The active substance TVEC led to a reduction in the size of the basal cell carcinoma in all study participants, which not only improved surgical removal, but also led to a complete regression of the tumour in some of the patients.

A collaborative study between researchers from the Yong Loo Lin School of Medicine, National University of Singapore (NUS Medicine), and the Institute for Biostatistics and Informatics in Medicine and Ageing Research, Rostock University Medical Center, Germany, investigated how advanced AI tools, like Large Language Models (LLMs), can make it easier to evaluate interventions for ageing and provide personalised recommendations. The findings were published in the leading review journal Ageing Research Reviews.