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Study reveals how genetic changes in SCN2A gene impact autism and epilepsy

A genetic change or variant in a gene called SCN2A is a known cause of infantile seizures, autism spectrum disorder and intellectual disability, as well as a wide range of other moderate-to-profound impairments in mobility, communication, eating and vision.

26 Apr 2024

Machine learning system offers new hope for diagnosis of rare genetic disorders

Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process more efficient using artificial intelligence.

25 Apr 2024

CNIC researchers unravel complexities of Andersen-Tawil syndrome

A team at the Centro Nacional de Investigaciones Cardiovasculares (CNIC) has made a breakthrough discovery in the understanding of cardiac arrhythmias by unraveling the complexities of Andersen-Tawil syndrome (ATS), an extremely rare inherited cardiac disorder.

10 Apr 2024

Baylor study reveals role of newly inherited DNA variants in recessive diseases

You have your mother's eyes and your father's smile, but genetics is much more than just what's on the surface.

10 Apr 2024

C-Path announces formation of new task force to foster drug development for Progressive Supranuclear Palsy

Critical Path Institute (C-Path) today announced the formation of a new task force under its Rare Disease Cures Accelerator-Data and Analytics Platform, dedicated to advancing therapeutic development for Progressive Supranuclear Palsy.

26 Mar 2024

Children with multiple sclerosis have better outcomes if treated early and with high-efficacy therapies

A ground-breaking study – the largest of its kind globally – has found children with multiple sclerosis (MS) have better outcomes if treated early and with the same high-efficacy therapies as adults.

25 Mar 2024

Advancing computational pathology with UNI and CONCH foundation models

Foundation models, advanced artificial intelligence systems trained on large-scale datasets, hold the potential to provide unprecedented advancements for the medical field.

19 Mar 2024

Hope for PDCD and Cure Mito Foundation unveil joint patient registry

Cure Mito Foundation and Hope for PDCD foundation, both patient-led foundations focused on advancing research and supporting families affected by Leigh syndrome and Pyruvate Dehydrogenase Complex Deficiency (PDCD), respectively, are excited to announce a launch of a PDCD patient registry.

18 Mar 2024

Study reveals the inner workings of gene mutations linked to ultra-rare syndrome

A team from the University of Ottawa's Faculty of Medicine has completed an exciting new study that reveals the inner workings of gene mutations that result in an ultra-rare syndrome with fewer than 100 reported cases since its first description in the early 1960s.

18 Mar 2024

From China to Uzbekistan - United for Women’s Wellness on IWD

On the occasion of International Women's Day (IWD), BGI Genomics interview Wang Leilei, a trailblazing blind model, and Viktoriya Tsay, an Uzbek advocate of women’s health. Their stories stich a cross-cultural narrative of nurturing the nuance of women’s wellness worldwide.

From BGI Genomics 6 Mar 2024

Clinigen launches 'What is Possible?' campaign to expand access to rare disease treatments

Clinigen, the global pharmaceutical services company, today launched a new campaign called ‘What is Possible?’ to help empower patients and medical professionals to ask what more is possible in the treatment of rare diseases.

4 Mar 2024

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