Rare Disease News and Research

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UCL researchers produce first image of the structures that power human cilia

The first image of the structures that power human cilia – the tiny, hairlike projections that line our airways – has been produced by a team involving UCL researchers and could lead to much-needed treatments for people with rare cilial diseases.

13 Jun 2023

New insights into the mechanisms underlying progression of Huntington's disease

New research led by a University of Ottawa Faculty of Medicine team is providing compelling insights into the mechanisms underlying the progression of Huntington's disease in an animal model.

7 Jun 2023

Large-scale comprehensive sequencing helps downstream medical care in newborns

Researchers who lead the world's first comprehensive sequencing program for newborn infants have published the next chapter in the ongoing study of the BabySeq Project, with new findings on infants and families who have been followed for 3-5 years.

6 Jun 2023

New algorithm could improve the search for genetic cause of hereditary diseases

So far, it has not been possible to explain the causes of around half of all rare hereditary diseases. A Munich research team has developed an algorithm that predicts the effects of genetic mutations on RNA formation six times more precisely than previous models.

1 Jun 2023

Study aims to optimize radiotherapy treatment for patients with anal cancer

Reducing the dose and duration of radiotherapy treatments for anal cancer may result in fewer side effects, recent clinical trial results have shown.

15 May 2023

Pioneering AI-based approach identifies rare disease patients using electronic health records

Research paper describes the use of Symptoma's AI-based approach to identify patients with Pompe disease from retrospective electronic health records. The study found a prevalence of one in every 18,427 people for Pompe disease in the greater Salzburg region and established phenotypes for patient cohorts with an onset of symptoms above or below 1 year of age.

11 May 2023

Targeting uncontrolled inflammation may make tumors more responsive to treatment

Van Andel Institute scientists have pinpointed how a specific gene mutation triggers an inflammatory cascade that may drive development of treatment-resistant cancers.

11 May 2023

One-third of patients with chronic thromboembolic pulmonary hypertension also have left heart disease

A long-term analysis designed by Christian Gerges and Irene Lang at the Department of Medicine II of the University Hospital Vienna and MedUni Vienna indicates that one third of patients with chronic thromboembolic pulmonary hypertension (CTEPH) also have left heart disease.

27 Apr 2023

New treatment pathway identified for patients with idiopathic nephrotic syndrome

With funding from charity Kidney Research UK, Dr Carl May from Bristol Medical School and his team have identified a new treatment pathway for patients with non-genetic (idiopathic) nephrotic syndrome (INS), targeting a still unknown factor that causes the progression towards kidney failure.

13 Apr 2023

The drug company that prospered without creating any drugs

The new drug looked so promising — except for that one warning sign.

13 Apr 2023

Optimized genome-editing method opens the door to more effective treatment of genetic diseases

CRISPR-Cas9 is widely used to edit the genome by studying genes of interest and modifying disease-associated genes.

11 Apr 2023

The emergence of tanapox in South Africa, 2022

Study describes a human case of tanapox in South Africa.

10 Apr 2023

Using brain organoids to test gene therapies for a rare disease in children

Brain tissue grown in a laboratory by University of Queensland researchers will be used to test a treatment for a rare disease in children and help unlock therapies for a range of neurological disorders.

5 Apr 2023

New treatment for fibrous dysplasia shows promising results in NIH clinical trial

A clinical trial at the National Institutes of Health found that a medication, denosumab, significantly reduced abnormal bone turnover in adults with fibrous dysplasia, a rare disease marked by weak and misshapen bones.

4 Apr 2023

Novel immunotherapy-based approach for low-grade lymphomatoid granulomatosis improves patient survival

Results from a clinical trial conducted by researchers at the National Institutes of Health (NIH) show that people with low-grade lymphomatoid granulomatosis who are treated with interferon alfa-2b, a type of immunotherapy, can live for decades after diagnosis.

4 Apr 2023

Study focuses on a novel mechanism of the body's regulation of salt balance

A new study led by Marshall University researchers focuses on a novel mechanism of the body's regulation of salt balance.

31 Mar 2023

Upgraded tumor model points the way toward more effective cancer therapies

Tumor cells won't show their true selves in a petri dish, isolated from other cells.

20 Mar 2023

Computational analysis of large genetic datasets reveals rare disease etiologies

Using a new computational approach they developed to analyze large genetic datasets from rare disease cohorts, researchers at the Icahn School of Medicine at Mount Sinai and colleagues have discovered previously unknown genetic causes of three rare conditions: primary lymphedema (characterized by tissue swelling), thoracic aortic aneurysm disease, and congenital deafness.

17 Mar 2023

Simple genetic urine test shows potential for early detection of bladder cancer

Testing for genetic mutations in urine can detect bladder cancer years before the disease shows clinical symptoms, new research has shown.

13 Mar 2023

PacBio to commence first customer shipments of Revio long-read sequencing systems

PacBio, a leading developer of high-quality, highly accurate sequencing solutions, today announced its first customer shipments of Revio long-read sequencing systems will commence on March 8, 2023.

9 Mar 2023