Rare Disease News and Research

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Rare Diseases Action Plan for England focuses on providing better care and reducing health inequalities

A new Rare Diseases Action Plan for England will be published today (Tuesday 28 February) that will ensure those living with these conditions receive better care and treatment, fairer access to testing and have continued support.

28 Feb 2023

A bitter battle over the ‘orphan drug’ program leaves patients’ pocketbooks at risk

A prescription drug that helps Lore Wilkinson walk and talk despite a rare muscle disease cost her so little for more than a decade that she didn't even use her insurance to pay for it.

22 Feb 2023

Oxford-Harrington Rare Disease Centre hosts virtual event in honor of the upcoming Rare Disease Day

The Oxford-Harrington Rare Disease Centre, a partnership of the University of Oxford and Harrington Discovery Institute at University Hospitals, is hosting a virtual event on Monday, Feb. 27, 2023, in honor of the upcoming Rare Disease Day, which is celebrated across the globe on February 28 every year.

21 Feb 2023

Toxic protein may be the cause of muscular dystrophy and arhinia

Balancing care responsibilities with paid work provides working caregivers with emotional benefits

19 Feb 2023

Your money or your life: Patient on $50,000-a-week cancer drug fears leaving behind huge medical debt

After several rounds of treatment for a rare eye cancer — weekly drug infusions that could cost nearly $50,000 each — Paul Davis learned Medicare had abruptly stopped paying the bills.

14 Feb 2023

Researchers discover new neurological condition characterized by issues with motor coordination and speech

Researchers at the National Institutes of Health have discovered a new neurological condition characterized by issues with motor coordination and speech. They report their findings in npj Genomic Medicine.

10 Feb 2023

Study examines clinical risk factors for kidney function decline in children with CKD

Chronic kidney disease (CKD) in children is rare, which makes it difficult to study and leaves major gaps in the quantity and quality of evidence that informs the care of pediatric patients with the condition.

6 Feb 2023

Cryo-EM reveals the structure of hnRNPDL-2 protein fibrils associated with limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy type 3 (LGMD D3) is a rare disease causing progressive muscle weakness, caused by point mutations in the hnRNPDL-2 protein.

3 Feb 2023

Researchers develop a cell line to address the challenges facing cellular modeling of disease

Bill Skarnes and team established and characterized a stable iPSC line, KOLF2.1J, to act as a high-quality baseline platform for modeling human disease.

3 Feb 2023

New 'cutting edge' hemophilia treatment is a victory for patients, Tulane doctor says

A new treatment that helps people with hemophilia A maintain higher levels of a crucial blood clotting factor with fewer treatments is a victory for patients, according to a new editorial in The New England Journal of Medicine this week by Dr. Cindy Leissinger, director of the Louisiana Center for Bleeding and Clotting Disorders at Tulane University School of Medicine.

27 Jan 2023

Using motion capture technology and AI to monitor the progression of movement disorders

A multi-disciplinary team of researchers has developed a way to monitor the progression of movement disorders using motion capture technology and AI.

23 Jan 2023

UK set to boost genomics expertise through a landmark partnership with Thailand

UK patients will benefit from a new partnership with Thailand to share expertise of genome sequencing, collaborate in research, education and training opportunities, knowledge exchange and genomics data handling.

20 Jan 2023

What does the future of clinical trials and evidence-based medicine look like?

In a recent perspective published in Nature Medicine, the researcher shared his vision and future perspectives for the domains of clinical research and evidence-based therapeutics.

18 Jan 2023

Researchers develop innovative STAb therapy for a type of leukemia

Researchers of the Hospital Universitario 12 de Octubre in Madrid and the Josep Carreras Leukaemia Research Institute have developed a cell therapy for a type of leukemia which currently has very few treatment options.

16 Jan 2023

Scientists pinpoint the routes taken by SARS-CoV-2 to enter and exit cells in our nasal cavity

Somebody just coughed on you. On a plane. At a dinner party. In a supermarket line. If only there were a "morning after" nasal spray that could knock out respiratory viruses' ability to colonize your nose and throat.

5 Jan 2023

Incurable liver disease could be reversed with a single drug

Research led by Associate Professor Duc Dong, Ph.D., has shown for the first time that the effects of Alagille syndrome, an incurable genetic disorder that affects the liver, could be reversed with a single drug.

4 Jan 2023

Study shows the clinical utility of amniotic fluid cells RNA-sequencing in prenatal rare disease diagnosis

A clinical research team from the Department of Paediatrics and Adolescent Medicine and the Department of Obstetrics and Gynaecology, School of Clinical Medicine, LKS Faculty of Medicine, The University of Hong Kong (HKUMed) leads the discovery of applying amniotic fluid cells obtained during 16-24 weeks of pregnancy as a novel sample type for RNA-sequencing in prenatal diagnosis to help more families with tailored clinical management.

4 Jan 2023

NCI-led clinical trial results in the first approval of a treatment for advanced alveolar soft part sarcoma

A clinical trial led by the National Cancer Institute (NCI), part of the National Institutes of Health, has resulted in the first approval of a treatment for advanced alveolar soft part sarcoma (ASPS).

28 Dec 2022

Study shows positive effect of concentrating surgery for children with neuroblastoma

Neuroblastoma is a tumor of the sympathetic nervous system that occurs mainly in young children. Every year, 25 children in the Netherlands receive this diagnosis. Surgery to remove the tumor tissue forms an important part of the treatment plan.

19 Dec 2022

Two Cents' Worth: Shared decision making in renal cell carcinoma (RCC)

In this interview, we speak to Steve Pointon, patient advocate in remission from RCC, and Dr Harm van Melick, Consultant Urologist, about their experiences with shared decision-making and the impact it can have on people living with renal cell carcinoma (RCC).

From Ipsen 15 Dec 2022