Rare Disease News and Research

RSS

Study sheds light on how Zika virus causes microcephaly in newborns

A new study led by researchers at Baylor College of Medicine revealed how in utero Zika virus infection can lead to microcephaly in newborns. The team discovered that the Zika virus protein NS4A disrupts brain growth by hijacking a pathway that regulates the generation of new neurons.

14 Nov 2019

UM launches CAR-T clinical trial for patients with myasthenia gravis

Neuromuscular experts with the University of Miami Health System and the Miller School of Medicine will launch a Phase 1/2 clinical trial (NCT04146051) using the CAR-T drug, Descartes-08, to treat patients with generalized myasthenia gravis.

5 Nov 2019

FDA keeps brand-name drugs on a fast path to market ― despite manufacturing concerns

After unanimously voting to recommend a miraculous hepatitis C drug for approval in 2013, a panel of experts advising the Food and Drug Administration gushed about what they'd accomplished.

5 Nov 2019

Molecular gatekeepers that regulate calcium ions vital for muscle health and repair

Calcium ions are essential to how muscles work effectively, playing a starring role in how and when muscles contract, tap energy stores to keep working and self-repair damage.

31 Oct 2019

Discovery in monkeys could pave way for treatment of Bardet-Biedl Syndrome

A genetic mutation that leads to a rare, but devastating blindness-causing syndrome has been discovered in monkeys for the first time. The finding offers a promising way to develop gene and cell therapies that could treat the condition in people.

25 Oct 2019

Breakthrough study suggests ways to develop treatments for rare genetic skin disease

A breakthrough has been made in understanding a rare genetic skin disease that causes progressively enlarging skin tumours over the scalp, face and body.

24 Oct 2019

$5 million in federal funding to accelerate potential treatments for urea cycle disorders

An international research consortium co-led by Andrea L. Gropman, M.D., at Children's National Hospital has received $5 million in federal funding as part of an overall effort to better understand rare diseases and accelerate potential treatments to patients.

24 Oct 2019

Study: More than 300 million people affected worldwide by rare diseases

Rare diseases represent a global problem. Until now, the lack of data made it difficult to estimate their prevalence.

24 Oct 2019

Hong Kong Baptist University receives FDA orphan drug designation for novel aptamer

A research team from the School of Chinese Medicine at Hong Kong Baptist University has successfully developed a novel aptamer, i.e. a single-stranded piece of DNA, for the treatment of osteogenesis imperfecta (OI) with the aid of artificial intelligence (AI) technology.

23 Oct 2019

LSU Health New Orleans awarded $1.74 million to advance research on Usher syndrome

Jennifer J. Lentz, PhD, Associate Professor at LSU Health New Orleans Neuroscience Center of Excellence and Departments of Otorhinolaryngology, Genetics and Ophthalmology, in collaboration with Robert K. Koenekoop MD, PhD and Professor of Pediatric Surgery, Human Genetics and Ophthalmology at McGill University in Montreal, Quebec, Canada, has been awarded a $1.74 million USD grant to advance research on Usher syndrome.

22 Oct 2019

Cytel hosts Complex Innovative Trial Design Symposium and East Training in Boston

Cytel Inc., the leading global provider of innovative analytical software and consulting services to the life sciences industry, has announced that the Complex Innovative Trial Design Symposium and East Training will take place November 6–7 at Alexion’s headquarters in Boston, Massachusetts.

From Cytel 18 Oct 2019

Study suggests new model of treatment for heart attack or stroke victims

Each year, heart attacks kill almost 10 million people in the world, and more than 6 million die from stroke. A heart attack is caused by a clot that blocks the artery blood flow. Unirrigated tissues are deprived from the oxygen that is carried by the blood. Under these conditions, the affected tissues undergo a rapid necrosis.

15 Oct 2019

How Is Ophthalmology Changing To Meet New Challenges?

Ophthalmology, a highly dynamic space in vision loss and age-related eye diseases with approximately 1.3 billion people living with vision impairment.

From Santen Pharmaceutical Co., Ltd. 15 Oct 2019

Cleveland Clinic-led researchers develop novel genetic-based epilepsy risk scores

An international team of researchers led by Cleveland Clinic has developed new genetic-based epilepsy risk scores which may lay the foundation for a more personalized method of epilepsy diagnosis and treatment.

14 Oct 2019

Cincinnati Children's receives NIH grant renewal for collaborative research into eosinophilic disorders

Cincinnati Children's Hospital Medical Center has received a 5-year, $7.57 million grant renewal from the National Institutes of Health to continue leading a consortium of organizations from around the country that will conduct clinical research into eosinophilic gastrointestinal disorders.

7 Oct 2019

GW researchers to study the underlying pathophysiology of myasthenia gravis

The National Institutes of Health awarded a research team at the George Washington University $7.8 million to establish a rare disease network for myasthenia gravis. The network, which will be part of 25 established NIH Rare Diseases Clinical Research Networks, will include basic and clinical investigators, patient advocacy groups, and biotechnology and pharmaceutical companies working together to enhance therapeutic development for this rare disease.

4 Oct 2019

NIH grants boost rare diseases research efforts

Of an estimated 6,500 to 7,000 known rare diseases, only a fraction - maybe 5% - have U.S. Food and Drug Administration-approved treatments.

4 Oct 2019

$28 million grant supports Cincinnati Children's role as coordinating center for Rare Diseases Clinical Research Network

The federal agency that oversees a large network of research centers seeking cures for hundreds of rare, disabling and often fatal diseases has named Cincinnati Children's as its new data management and coordinating center.

4 Oct 2019

Medical professional offers unique perspective as father of a child with rare movement disorder

From a professional standpoint, Nathan Hoot, MD, PhD, understands the value of medical research that leads to new, groundbreaking drugs in the treatment of rare diseases.

1 Oct 2019

Research reveals new mechanism which could lead to premature aging in mother cells

Researchers from the University of Seville and the Andalusian Center of Molecular Biology and Regenerative Medicine, have discovered a new mechanism that makes it possible to understand premature aging in cells with asymmetrical cell division, as is the case with mother cells.

30 Sep 2019

Rare Disease News and Research

Study sheds light on how Zika virus causes microcephaly in newborns

UM launches CAR-T clinical trial for patients with myasthenia gravis

FDA keeps brand-name drugs on a fast path to market ― despite manufacturing concerns

Molecular gatekeepers that regulate calcium ions vital for muscle health and repair

Discovery in monkeys could pave way for treatment of Bardet-Biedl Syndrome

Breakthrough study suggests ways to develop treatments for rare genetic skin disease

$5 million in federal funding to accelerate potential treatments for urea cycle disorders

Study: More than 300 million people affected worldwide by rare diseases

Hong Kong Baptist University receives FDA orphan drug designation for novel aptamer

LSU Health New Orleans awarded $1.74 million to advance research on Usher syndrome

Cytel hosts Complex Innovative Trial Design Symposium and East Training in Boston

Study suggests new model of treatment for heart attack or stroke victims

How Is Ophthalmology Changing To Meet New Challenges?

Cleveland Clinic-led researchers develop novel genetic-based epilepsy risk scores

Cincinnati Children's receives NIH grant renewal for collaborative research into eosinophilic disorders

GW researchers to study the underlying pathophysiology of myasthenia gravis

NIH grants boost rare diseases research efforts

$28 million grant supports Cincinnati Children's role as coordinating center for Rare Diseases Clinical Research Network

Medical professional offers unique perspective as father of a child with rare movement disorder

Research reveals new mechanism which could lead to premature aging in mother cells

Sensing a Healthier Future

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Latest News