Rare Disease News and Research

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PacBio to commence first customer shipments of Revio long-read sequencing systems

PacBio, a leading developer of high-quality, highly accurate sequencing solutions, today announced its first customer shipments of Revio long-read sequencing systems will commence on March 8, 2023.

9 Mar 2023

Nirogacestat shows promising results in patients with desmoid tumors

When Dana Avellino, now 36, first noticed a lump near her groin in the summer of 2018, she thought it was related her recent cesarean section. Her younger daughter was only 2 months old at the time.

9 Mar 2023

Government funding to accelerate research in AI healthcare technologies

Tens of thousands of patients across the country could benefit from quicker, earlier diagnoses and more effective treatments for a range of conditions - as the government invests nearly £16 million into pioneering artificial intelligence research (AI).

3 Mar 2023

Product development and drug delivery at Seda

In this interview, NewsMedical speaks with Shanoo about her career progression and role in Seda Pharmaceutical regarding product development and drug delivery. She also outlines some of the services that Seda offers.

From Seda Pharmaceutical Development Services 1 Mar 2023

Largest genomic study focuses on the prognosis of metastatic pheochromocytomas

Pheochromocytoma is a rare tumor, with an incidence of three to eight cases per million population per year.

28 Feb 2023

New clinician toolkit aims to close the gaps in diagnosis of interstitial lung diseases

The expert steering committee for Bridging Specialties: Timely Diagnosis for ILD is encouraging primary care and pulmonary clinicians to come together on Rare Disease Day (February 28) to explore ways to shorten the time to diagnosis for pulmonary fibrosis and other interstitial lung diseases.

28 Feb 2023

Mutation in a single non-coding gene found to be the source of multisystemic smooth muscle dysfunction syndrome

A team of investigators from Massachusetts General Hospital, a founding member of Mass General Brigham and Mass General for Children has identified-; for the first time-; the mutation in a single non-coding gene of a young patient responsible for the extremely rare disease known as multisystemic smooth muscle dysfunction syndrome, which causes profound cerebrovascular, gastrointestinal and urologic impairment.

28 Feb 2023

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

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

Rare Disease News and Research

PacBio to commence first customer shipments of Revio long-read sequencing systems

Nirogacestat shows promising results in patients with desmoid tumors

Government funding to accelerate research in AI healthcare technologies

Product development and drug delivery at Seda

Largest genomic study focuses on the prognosis of metastatic pheochromocytomas

New clinician toolkit aims to close the gaps in diagnosis of interstitial lung diseases

Mutation in a single non-coding gene found to be the source of multisystemic smooth muscle dysfunction syndrome

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

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

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

Toxic protein may be the cause of muscular dystrophy and arhinia

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

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

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

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

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

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

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

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

Researchers develop innovative STAb therapy for a type of leukemia

Achieving and maintaining ISO 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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