Rare Disease News and Research

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Sciensus names Christian Tucat as Chief Executive Officer

With the appointment of Christian Tucat as CEO, Sciensus aims to leverage insights and expand its global reach in delivering lifesaving drugs and therapies.

From Sciensus 18 Oct 2024

Zebrafish could be used to explore the underlying mechanisms of Nager syndrome

Nager syndrome, or NS, is a rare genetic disease that affects the development of the face and limbs, usually causing anomalies in the bone structures of the jaws, cheeks, and hands.

16 Oct 2024

New collaboration aims to break through LGMD treatment barriers

Critical Path Institute (C-Path) today announced the formation of a new task force under its Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP®), dedicated to advancing therapeutic development for limb-girdle muscular dystrophies (LGMDs).

1 Oct 2024

Innovative genomic approach identifies rare Long QT syndrome carriers

An innovative analysis of shared segments within the genome -; an indication of distant "relatedness" -; has identified undiagnosed cases of Long QT syndrome, a rare disorder that can lead to abnormal heart rhythms, fainting and sudden cardiac death.

27 Sep 2024

A randomized trial of mexiletine and lamotrigine in adults with non-dystrophic myotonia

The study, published in Lancet Neurology, detailed the "head-to-head" trial implemented by the researchers to test two drugs, mexiletine and lamotrigine, on people with the condition.

27 Sep 2024

New AI tool revolutionizes drug discovery for rare diseases

There are more than 7,000 rare and undiagnosed diseases globally.

25 Sep 2024

New deep learning algorithm predicts effects of rare genetic variants

Whether we are predisposed to particular diseases depends to a large extent on the countless variants in our genome.

25 Sep 2024

News-Medical announces partnership with World Orphan Drug Congress

Engage with over 2000 attendees at the World Orphan Drug Congress Europe, focusing on gene therapy and strategies for rare disease treatment advancements.

From World Orphan Drug Congress 23 Sep 2024

Cancer drug shows promise for treating rare bleeding disorder

A clinical trial has demonstrated that the cancer drug pomalidomide is safe and effective in treating hereditary hemorrhagic telangiectasia (HHT), a rare bleeding disorder that impacts more than 1 in 5,000 people worldwide. The trial, led by Keith McCrae, M.D., of Cleveland Clinic and supported by the National Institutes of Health, was stopped early because of these successful findings, and has been published in the New England Journal of Medicine.

19 Sep 2024

Innovative triplet therapy shows encouraging results in advanced chronic myeloid leukemia

According to researchers at The University of Texas MD Anderson Cancer Center, 80% of patients with previously untreated or relapsed/refractory advanced-phase chronic myeloid leukemia (CML) – including both accelerated or myeloid blast phases of the disease – or Philadelphia chromosome-positive acute myeloid leukemia (AML) achieved a bone marrow remission when treated with a novel combination of decitabine, venetoclax and ponatinib.

17 Sep 2024

Pre-surgery chemotherapy shows promise for preserving vital organs in nasal and sinus cancer

Results from a clinical trial by the ECOG-ACRIN Cancer Research Group (ECOG-ACRIN) show a striking improvement for patients who received chemotherapy before surgery to remove advanced squamous cell-type cancer of the nose or sinus.

11 Sep 2024

Gut bacteria may influence immunotherapy success in mesothelioma patients

A cancer study has found that certain gut bacteria may influence whether or not a patient's immune system is successful in fighting mesothelioma, an aggressive form of cancer.

5 Sep 2024

A new genetic perspective on monilethrix

From infancy and usually for life, some families suffer from broken hair due to a congenital form of hair loss called monilethrix. Researchers at the University Hospital Bonn and the University of Bonn have now identified causative mutations in another keratin gene, KRT31. They hope that this will improve the diagnosis of this rare disease. Their results have now been published in the renowned "British Journal of Dermatology".

5 Sep 2024

Study reveals key genetic markers for early onset bicuspid aortic valve complications

Genetic variants linked to a rare form of bicuspid aortic valve disease that affects young adults and can lead to dangerous and potentially life-threatening aortic complications have been identified by researchers at UTHealth Houston.

2 Sep 2024

Aceneuramic acid drug receives approval for treatment of patients with GNE myopathy

In order to treat an underserved population of patients with a rare condition whose muscles gradually become weaker until they can no longer walk, a team of researchers across Japan have completed a clinical study to confirm the safety of long-term administration of a therapeutic drug.

20 Aug 2024

Renewed mpox threat finds public unprepared

It has been two years since the World Health Organization declared a global health emergency over an outbreak of mpox, a disease endemic to Africa that had spread to scores of countries. Now, in the summer of 2024, a deadlier version of the infectious disease has spread from the Democratic Republic of Congo to other African nations, the strain that originally hit the United States has shown signs of a resurgence, and this week the Centers for Disease Control and Prevention (CDC) issued a new alert on mpox to health care providers.

9 Aug 2024

Advanced technology and AI used to diagnose rare diseases and birth abnormalities

Researchers at London Health Sciences Centre (LHSC) and Lawson Health Research Institute are using advanced technology and artificial intelligence (AI) to diagnose rare diseases and prenatal exposure-related birth abnormalities in two studies published today in American Journal of Human Genetics and Genetics in Medicine.

31 Jul 2024

Innovative genetic approaches to rare disease diagnosis

The majority of rare diseases have a genetic cause. The underlying genetic alteration can be found more and more easily, for example by means of exome sequencing (ES), leading to a molecular genetic diagnosis.

22 Jul 2024

Research may pave the way for systemic targeted therapy for patients with pseudomyxoma peritonei

Published in Clinical Cancer Research, results of a preclinical study led by investigators of the Vall d'Hebron Institute of Oncology's (VHIO) Stem Cells and Cancer Group, headed by Héctor G. Palmer, pave the way for systemic targeted therapy in patients with pseudomyxoma peritonei, a rare form of cancer with very few therapeutic options available.

19 Jul 2024

Scurvy on the rise in the United States: Pediatric cases triple in five years

Researchers found that pediatric scurvy cases tripled from 2016 to 2020, highlighting a significant rise in incidence, particularly among low-income, male, and autistic children.

19 Jul 2024