Rare Disease News and Research

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Experts discuss the role of hormones in everyday life, highlight policy measures to address challenges

Today, EU policymakers, experts, patient representatives and other stakeholders gathered online to discuss the role of hormones in our everyday life, its interlinkage with prevalent non-communicable diseases and the policy measures required to address the many challenges in this rapidly growing area of human health.

11 May 2021

A new 3D model for myotonic dystrophy

Myotonic dystrophy is a hereditary degenerative neuromuscular disease that occurs mainly in adults, affecting about 50,000 people only in Spain.

4 May 2021

New compound could alleviate neurological symptoms of CHARGE syndrome

CHARGE syndrome is a rare genetic disorder affecting about 1 in 10,000 newborns. It can lead to neurological and behavioural disorders for which no treatment is currently available.

28 Apr 2021

CDISC, NORD announce partnership to develop global data standards for rare diseases

CDISC and the National Organization for Rare Disorders have announced a partnership to develop global data standards for rare diseases.

27 Apr 2021

C-Path opens access to D-RSC database to accelerate therapy development for DMD

Critical Path Institute announced today that it will open access to the Duchenne Regulatory Science Consortium (D-RSC) database to qualified researchers, through its Rare Disease Cures Accelerator, Data and Analytics Platform.

22 Apr 2021

Novel approach to gene editing bypasses disease-causing mutations in a gene

A new approach to gene editing using the CRISPR/Cas9 system bypasses disease-causing mutations in a gene, enabling treatment of genetic diseases linked to a single gene, such as cystic fibrosis, certain types of sickle cell anemia, and other rare diseases.

21 Apr 2021

New and more effective treatment for Pompe disease

Rare diseases are sometimes the most difficult to treat because of a lack of research and fewer participants to study.

16 Apr 2021

Keele researcher awarded prestigious grant to identify treatments for devastating childhood disease

A Keele researcher will embark on a two-year study to identify affordable treatments to help children living with spinal muscular atrophy.

15 Apr 2021

Gift boosts efforts to understand and combat rare cancers

Curing cancer has been the dream of countless doctors and researchers over the decades. Yet some types of cancer, whether because they affect relatively few people or lack influential advocates, receive less attention and funding than others.

9 Apr 2021

New grant to Harvard Medical School is boosting efforts to understand and combat rare cancers

7 Apr 2021

Researchers evaluate new drug for spinal muscular atrophy in a broader spectrum of patients

The rarity of spinal muscular atrophy (SMA) means that promising new treatments may be tested in only a limited spectrum of patients before approval. Investigators evaluated a newly approved drug, onasemnogene abeparvovec, in a broader spectrum of patients in order to obtain expanded data on its side effects profile.

6 Apr 2021

Single injection of RNA therapy improves vision in patient with genetic form of childhood blindness

A Penn Medicine patient with a genetic form of childhood blindness gained vision, which lasted more than a year, after receiving a single injection of an experimental RNA therapy into the eye.

1 Apr 2021

Scientists discover new genetic disease that causes abnormal brain development in children

Scientists have discovered a new genetic disease, which causes some children's brains to develop abnormally, resulting in delayed intellectual development and often early onset cataracts.

31 Mar 2021

Research consortium identifies cell stress mechanisms for chronic inflammatory liver disease

Primary sclerosing cholangitis (PSC) is a rare, chronic, inflammatory disease of the bile ducts and is difficult to treat, since its causes have not yet been adequately researched.

30 Mar 2021

Researchers develop first human model for studying the neuronal pathology of Leigh syndrome

Leigh syndrome is the most severe mitochondrial disease in children. It causes severe muscle weakness, movement defects, and intellectual disabilities.

26 Mar 2021

Delays in TB diagnosis often exceed WHO’s recommendations, shows study

Tuberculosis remains a rare disease in the United States, but when it does occur, delays in diagnosing it often exceed recommendations by the World Health Organization, according to a new report by Harvard Medical School researchers published March 22 in The Lancet Infectious Diseases.

24 Mar 2021

Researcher uses alternative approach to find genetic drivers of rare eye disease

An analysis of thousands of genomes from people with and without the rare eye disease known as MacTel has turned up more than a dozen gene variants that are likely causing the condition to develop and worsen for a significant share of patients.

23 Mar 2021

Nutritional supplement may reduce risk of fatal strokes in patients with rare genetic disorder

Researchers from Children's Hospital of Philadelphia (CHOP) have discovered that a widely used nutritional supplement may significantly reduce the risk of fatal strokes caused by a rare genetic disorder.

23 Mar 2021

Study: Early benefit assessment of new drugs within the framework of AM-NOG procedure

"The AMNOG procedure has passed its first practical test. It is practicable and can also be implemented in detail", emphasized IQWiG's Director Jürgen Windeler in October 2011, when the Institute had published its first early benefit assessment within the framework of the AM-NOG procedure (AMNOG = Act on the Reform of the Market for Medicinal Products).

22 Mar 2021

UTHSC professor awarded $1.79 million grant to develop new amyloidosis treatment

The National Institute of Diabetes and Digestive and Kidney Diseases recently awarded Jonathan Wall, PhD, professor in the University of Tennessee Health Science Center's Graduate School of Medicine in Knoxville, a $1.79 million grant for his study titled "Developing a Theranostic Immunotherapy for Systemic Amyloidosis."

16 Mar 2021