Rare Disease News and Research

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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

First-ever successful use of modified double-decker technique for scimitar syndrome in a child

Scimitar syndrome, a rare congenital heart disease, involves an anomalous pulmonary venous return where the right pulmonary veins return to the inferior vena cava instead of the left atrium.

18 Jul 2024

New cortical surface template provides greater accuracy in analyzing neuroimaging data

The human brain is responsible for critical functions, including perception, memory, language, thinking, consciousness, and emotions.

16 Jul 2024

Discovering the cerebellum's new role in thirst modulation

The cerebellum, often referred to as the 'little brain', has captivated researchers for centuries due to its unique structure and cellular complexity, as one of the most ancient brain regions in evolutionary terms.

12 Jul 2024

deCODE genetics study highlights potential drug targets for autoimmune thyroid disease

Scientists at deCODE genetics, a subsidiary of Amgen, have published a study in Nature Communications, comparing over 110 thousand patients with autoimmune thyroid disease (AITD) from Iceland, Finland, UK and USA with 1,1 million controls.

11 Jul 2024

UCLA research highlights delayed Huntington's disease diagnosis for Black patients

New research led by UCLA Health revealed that Black patients with Huntington's disease in the U.S. and Canada received their diagnoses, on average, one year later compared to White patients after symptoms first appear.

9 Jul 2024

High ambient temperatures during pregnancy can have detrimental impact on offspring health

As climate change warms the planet, high ambient temperatures are expected to be more common and intense over the coming decades in the U.S. and worldwide.

3 Jul 2024

Researchers identify key players in abnormal bone differentiation

A study conducted by researchers at Baylor College of Medicine and collaborating institutions reveals the molecular events leading to osteogenesis imperfecta type V, a form of brittle bone disease caused by a mutation in the gene IFITM5.

27 Jun 2024

Early diagnosis key in combating the deadly effects of AL amyloidosis

AL (immunoglobulin light chain) amyloidosis is a rare disease that often results in progressive organ dysfunction, organ failure and eventual death.

27 Jun 2024

RENEW system utilizes machine learning for rare disease diagnosis

At Mayo Clinic, the mission to solve the unsolvable is at the heart of every rare disease case. Each diagnosis is a testament to perseverance, innovation and the relentless pursuit of answers.

25 Jun 2024

Pacific Northwest Research Institute uncovers hidden DNA mechanisms of rare genetic diseases

Researchers at the Pacific Northwest Research Institute (PNRI) and collaborating institutions have made a groundbreaking discovery that could significantly advance our understanding of genomic disorders.

21 Jun 2024