Rare Disease News and Research

RSS

SickKids study offers new path for pediatric rare disease clinical trials

Using a novel methodology, researchers at The Hospital for Sick Children (SickKids) are the first in pediatric research to use data from an international real-world cohort to overcome the barriers associated with conducting randomized clinical trials in children with rare diseases.

29 Feb 2024

Higher COVID-19 death risk found in sickle cell disease and trait patients

UdeM's Stéphanie Forté and co-researchers in Canada and Brazil have shown how people with sickle cell disease or sickle cell trait have a higher chance of dying from COVID-19 than the general population.

29 Feb 2024

AI-based technology unlocks secrets of myasthenic-congenital syndromes

An international team of scientists led by ICREA researcher and Director of the Life Sciences Department at the Barcelona Supercomputing Centre - Centro Nacional de Supercomputación (BSC-CNS), Alfonso Valencia, has developed a technology based on artificial intelligence (AI) for the study of minority diseases and has successfully applied it to identify the possible causes of the appearance of what are known as myasthenic-congenital syndromes, a group of rare inherited disorders that limit the ability to move and cause varying degrees of muscle weakness in patients.

28 Feb 2024

Researchers identify new therapeutic for patients with a rare autoimmune disease EGPA

An international team, including researchers from McMaster University and St. Joseph's Healthcare Hamilton, has identified a new therapeutic for patients with a rare autoimmune disease called eosinophilic granulomatosis with polyangiitis (EGPA).

24 Feb 2024

Global end-to-end solutions partner to life sciences organisations, AscellaHealth, joins Manchester Science Park

Global healthcare and specialty pharmacy solutions company providing innovative solutions to life sciences and biotech manufacturers, AscellaHealth, is expanding its UK presence with a new office based at Manchester Science Park.

From AscellaHealth, LLC. 20 Feb 2024

Exome sequencing unravels complex genetic diagnoses in growth disorders

In an article published in the Journal of Pediatrics, researchers based in Brazil describe the case of a nine-year-old boy admitted to hospital with multiple symptoms and overlapping conditions that made diagnosis difficult, such as short stature, thin tooth enamel (dental enamel hypoplasia), moderate mental deficiency, speech delay, asthma, mildly altered blood sugar, and a history of recurring infections in infancy.

16 Feb 2024

Small-molecule A485 mobilizes white blood cells on demand

New study reveals a small molecule that can selectively mobilize white blood cells, offering potential treatments for diseases with abnormal leukocyte counts.

3 Feb 2024

CRISPR-Cas9 gene-editing tool repairs defective T cells to treat rare hereditary disease

Some hereditary genetic defects cause an exaggerated immune response that can be fatal. Using the CRISPR-Cas9 gene-editing tool, such defects can be corrected, thus normalizing the immune response, as researchers led by Klaus Rajewsky from the Max Delbrück Center now report in "Science Immunology."

2 Feb 2024

mRNA therapy shows promise for curing children's rare liver disease

By exploiting the technology used in Covid-19 vaccines, a team led by UCL, King's College London and Moderna scientists has created an effective therapy for a rare disease, in a study in mice, demonstrating the technology's potential therapeutic use in people.

10 Jan 2024

Hemoglobin-like protein plays an important role in the development of the heart, study finds

In a landmark study led by the University of Maryland School of Medicine, researchers discovered for the first time that a certain kind of protein similar to hemoglobin, called cytoglobin, plays an important role in the development of the heart.

15 Dec 2023

Research reimagined: Online platform empowers patients and professionals to set rare disease priorities

Patients with rare diseases have traditionally been the subjects of medical research. However, in recent years, their role has begun to shift from 'research participants' to 'experts with a lived experience', with some being involved in study planning, design and interpretation.

11 Dec 2023

UB research identifies key mechanism in infantile cystinosis

University at Buffalo research has identified how a misstep in the genesis of a key component of the kidney causes infantile cystinosis, a rare disease that significantly shortens the lifespan of patients.

11 Dec 2023

Targeted therapy reduces markers of disease burden, improves symptoms for patients with nonadvanced system mastocytosis

The targeted therapy bezuclastinib was safe and rapidly reduced markers of disease burden while also improving symptoms for patients with a rare blood disorder called nonadvanced system mastocytosis, according to results of the Phase II SUMMIT trial reported by researchers at The University of Texas MD Anderson Cancer Center.

11 Dec 2023

Groundbreaking online community connects Progeria patients worldwide

A ground-breaking online community has been launched to allow people with the rare disease Progeria to communicate regardless of their location or language.

11 Dec 2023

EU funds the international "BEHIND-MS" consortium to tackle multiple sclerosis

Multiple sclerosis (MS), an inflammatory disease of the central nervous system, affects more than 1 million people in Europe and an estimated 2.8 million worldwide.

7 Dec 2023

New program launched to accelerate access to personalized therapies for children with rare conditions

Today, Wednesday 22 November, the government announced its support for the Rare Therapies Launch Pad, a new programme that will develop a pathway for children with rare conditions to access individualized therapies.

4 Dec 2023

PacBio announces HiFi Solves, a global consortium of clinical genomics research leaders

PacBio (NASDAQ: PACB), a leading developer of high-quality, highly accurate sequencing solutions, today announced the creation of the HiFi Solves consortium.

From PacBio 2 Nov 2023

New drug candidate found to be highly effective in treating rare sight-threatening eye infection

A drug candidate, based on pioneering UCL and Moorfields Eye Hospital research and currently under development by SIFI S.p.A., has been found to be highly effective in treating a rare sight-threatening eye infection in a new international clinical trial.

26 Oct 2023

Common challenges when seeking market access for rare disease therapies

In this interview, News Medical speaks to Donovan Quill, Executive Vice President of Growth & Strategy at AscellaHealth about the recurring challenges met when seeking market access for rare disease therapies.

From AscellaHealth, LLC. 19 Oct 2023

FAST joins with University of Pennsylvania to develop investigational AAV gene therapy for Angelman syndrome

The Foundation for Angelman Syndrome Therapeutics (FAST) announced today that the non-profit organization has entered into an exclusive global collaborative research and development agreement with the University of Pennsylvania to develop an investigational adeno-associated virus (AAV) gene therapy for Angelman syndrome (AS).

17 Oct 2023

Rare Disease News and Research

SickKids study offers new path for pediatric rare disease clinical trials

Higher COVID-19 death risk found in sickle cell disease and trait patients

AI-based technology unlocks secrets of myasthenic-congenital syndromes

Researchers identify new therapeutic for patients with a rare autoimmune disease EGPA

Global end-to-end solutions partner to life sciences organisations, AscellaHealth, joins Manchester Science Park

Exome sequencing unravels complex genetic diagnoses in growth disorders

Small-molecule A485 mobilizes white blood cells on demand

CRISPR-Cas9 gene-editing tool repairs defective T cells to treat rare hereditary disease

mRNA therapy shows promise for curing children's rare liver disease

Hemoglobin-like protein plays an important role in the development of the heart, study finds

Research reimagined: Online platform empowers patients and professionals to set rare disease priorities

UB research identifies key mechanism in infantile cystinosis

Targeted therapy reduces markers of disease burden, improves symptoms for patients with nonadvanced system mastocytosis

Groundbreaking online community connects Progeria patients worldwide

EU funds the international "BEHIND-MS" consortium to tackle multiple sclerosis

New program launched to accelerate access to personalized therapies for children with rare conditions

PacBio announces HiFi Solves, a global consortium of clinical genomics research leaders

New drug candidate found to be highly effective in treating rare sight-threatening eye infection

Common challenges when seeking market access for rare disease therapies

FAST joins with University of Pennsylvania to develop investigational AAV gene therapy for Angelman syndrome

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

Expanding access to NMR with the Fourier 80 Duo

Latest News