Rare Disease News and Research

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For people with sickle cell disease, ERs can mean life-threatening waits

Heather Avant always dresses up when she goes to the emergency room.

17 Oct 2023

Hormones and high blood pressure: Study reveals endocrine culprits and targeted treatments

Researchers delve into endocrine causes of hypertension (HTN), revealing key culprits like primary aldosteronism and Cushing's syndrome. The study also evaluates the efficacy of various treatments, offering valuable insights for tackling this widespread health issue.

15 Oct 2023

European Union needs action plan to provide better diagnoses, treatment for rare diseases

At its conference in Bilbao, the European Economic and Social Committee (EESC) urged the European Union to launch a European action plan stepping up cooperation between national health systems.

14 Oct 2023

Cerba Research expands expertise and global reach to support drug development

Cerba Research is transforming into a multi-specialist and central laboratory company, providing research organisations with even greater access to exceptional scientific and technical teams in multiple therapeutic areas for drug and vaccine development.

14 Oct 2023

PacBio Announces Complete Computational Workflow for Human Whole Genome Sequencing Data Analysis

PacBio (NASDAQ: PACB), a leading developer of high-quality, highly accurate sequencing solutions, today announced the availability of PacBio WGS Variant Pipeline – a complete, standardized computational method for HiFi whole genome sequencing (WGS) data analysis.

From PacBio 11 Oct 2023

New AI tool could aid in the diagnosis of enigmatic rare diseases

An innovative AI-based tool leverages varied symptom descriptions, along with evidence from the scientific literature and genomic datasets, to pinpoint disease-associated gene variants.

10 Oct 2023

Researchers identify new potential treatments for children with rare genetic conditions of blood vessels

A research team at the Francis Crick Institute and Great Ormond Street Hospital (GOSH)/UCL Great Ormond Street Institute of Child Health have identified new potential treatments for children with rare genetic conditions of blood vessels, which cause severe, lifelong, and disabling symptoms like seizures and impaired development.

5 Oct 2023

NIH grant to fund development of new gene therapy platform for brain diseases

A two-phase NIH grant will fund research into a new CRISPR-based gene therapy platform that will target genetic brain diseases like Angelman syndrome and H1-4 (HIST1H1E) syndrome.

3 Oct 2023

DeepMind develops new tool to predict pathogenicity of missense variants

DeepMind is releasing AlphaMissense, a tool researchers can use to learn more about the effects that missense mutations – which make up the majority of "variants of uncertain significance" – have on disease.

19 Sep 2023

World-first AI model can detect eye diseases and predict systemic health

Researchers at Moorfields Eye Hospital and UCL Institute of Ophthalmology have developed an artificial intelligence (AI) system that has the potential to not only identify sight-threatening eye diseases but also predict general health, including heart attacks, stroke, and Parkinson's disease.

13 Sep 2023

First-degree relatives of patients with MASLD have higher risk of developing liver-related diseases

Close relatives of people with metabolic-associated fatty liver disease have a higher risk of developing liver cancer and dying from liver-related diseases, according to a national study from Karolinska Institutet in Sweden published in The Journal of Hepatology.

8 Sep 2023

VAI scientists uncover mechanism that annotates genetic information passed from fathers to offspring

Van Andel Institute scientists and collaborators have identified a key part of a mechanism that annotates genetic information before it is passed from fathers to their offspring.

7 Sep 2023

A move to cut drug prices has patients with rare diseases worried

For people with cystic fibrosis, like Sabrina Walker, Trikafta has been a life-changer.

30 Aug 2023

Same cellular mechanism implicated in cystic fibrosis and rare disease cystinosis

University of Michigan researchers have discovered that the same cellular mechanism involved in a form of cystic fibrosis is also implicated in a form of a rare disease called cystinosis.

28 Aug 2023

Study shows not all adrenal carcinoma patients need mitotane after surgery

After the complete tumor resection, not all patients with an adrenocortical carcinoma require the previous standard therapy Mitotane. Professors Martin Fassnacht and Massimo Terzolo show this in a clinical trial.

25 Aug 2023

Long-read sequencing reveals new details of Bartter syndrome type 3

Bartter syndrome type 3 is the result of several structural variants in the genome. By using long-read sequencing, Janine Altmüller and her team from the Max Delbrück Center, the BIH and University Hospital Cologne mapped out the rare disease in unprecedented detail.

23 Aug 2023

People with compromised immune systems less likely to have COVID-19 antibodies, study finds

New research has identified which people with compromised immune systems are less likely to have COVID-19 antibodies - making them more vulnerable to a severe infection.

23 Aug 2023

Study investigates the impact of rapid genome sequencing for infantile epilepsy

Epilepsy in infants ranges in severity and can leave caregivers with questions about their child's health. While genetic testing to help determine the cause of epilepsy is possible, comprehensive testing does not always happen routinely and it can take a long time, leaving families waiting for answers.

17 Aug 2023

Duchenne and other dystrophinopathies research receives major boost from new collaboration

Critical Path Institute's (C-Path) Duchenne Regulatory Science Consortium (D-RSC) and the Duchenne Data Foundation (DDF) are excited to announce a joint collaboration aimed at advancing research and improving healthcare for individuals with Duchenne muscular dystrophy (DMD) and other dystrophinopathies (conditions linked to mutations in the DMD gene).

10 Aug 2023

3D analysis of inner ear provides insights into Ménière's disease

Elaborate 3D analysis of the inner ear now, for the first time, provide insights into volume changes of special structures in sufferers of the so-called Ménière's disease.

7 Aug 2023