Rare Disease News and Research

RSS

Phase 3 study finds inebilizumab effective for immunoglobulin G4–related disease

An international, phase 3 clinical trial led by investigators at Mass General Brigham could improve the treatment of a rare disease that can cause debilitating symptoms.

14 Nov 2024

Practical tool helps predict epilepsy risk in venous stroke patients

A practical calculator that predicts the risk of epilepsy after venous stroke is presented in a study from the University of Gothenburg and others.

12 Nov 2024

New calculator predicts epilepsy risk after venous stroke

A practical calculator that predicts the risk of epilepsy after venous stroke is presented in a study from the University of Gothenburg and others. The aim is to improve care for those affected, which are predominantly young adults.

12 Nov 2024

Stand Up To Cancer partners with Johnson & Johnson to explore new treatment for AL amyloidosis

Stand Up To Cancer (SU2C) today announced a collaboration with Johnson & Johnson aimed at supporting research testing a combination of two types of targeted therapies, teclistamab and daratumumab, to treat a rare disease called AL amyloidosis.

12 Nov 2024

Advances in neutropenia research could pave the way for better treatments

Neutropenia is a condition in which there are not enough neutrophils, a type of white blood cell, in the blood.

5 Nov 2024

Drug repurposing offers hope for SYNGAP1 patients

The SynGAP Research Fund 501(c)(3) has awarded a pair of grants to Dr. Clement Chow, a geneticist and Associate Professor in the Department of Human Genetics at the University of Utah. These grants are crucial steps in advancing therapeutic development for SYNGAP1-Related Disorders (SRD).

30 Oct 2024

Study provides new insights into the molecular causes of rare, fatal hereditary disease

A study entitled "IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport", now published in the open access journal "Cellular and Molecular Life Sciences", provides new insights into the molecular causes of a rare and usually fatal hereditary disease called MEDS1.

28 Oct 2024

Unlocking the secrets of Usher syndrome

The mistakes are small but carry severe consequences: In Usher syndrome, genetic mutations cause both hearing and vision loss. Cell biologist Professor Uwe Wolfrum from Mainz University is researching the molecular background of this rare genetic disorder - supported by foundations and, not least, by affected individuals themselves

28 Oct 2024

Deletion of long non-coding RNA linked to rare neurodevelopmental disorder

When a gene produces too much protein, it can have devastating consequences on brain development and function. Patients with an overproduction of protein from the chromodomain helicase DNA binding (CHD2) gene can develop a rare and severe neurodevelopmental disorder that renders them wheelchair-bound, nonverbal and with profound intellectual delays.

24 Oct 2024

New drug WNTinib shows promise in treating pediatric liver cancer

A new drug called WNTinib can delay the growth of tumors and improve survival in hepatoblastoma, a type of liver cancer that occurs in young children.

22 Oct 2024

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