Rare Disease News and Research

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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

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

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

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

Rare Disease News and Research

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

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

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

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

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

Cerba Research expands expertise and global reach to support drug development

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

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

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

DeepMind develops new tool to predict pathogenicity of missense variants

Sensing a Healthier Future

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

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