Rare Disease News and Research

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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

Study endeavors to strengthen genomic diagnosis of rare pediatric diseases in the United Kingdom and Ireland

Researchers performed a large-scale sequencing study using data gathered over a decade from a previous study.

14 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

Nirogacestat shows promising results in patients with desmoid tumors

When Dana Avellino, now 36, first noticed a lump near her groin in the summer of 2018, she thought it was related her recent cesarean section. Her younger daughter was only 2 months old at the time.

9 Mar 2023

Government funding to accelerate research in AI healthcare technologies

Tens of thousands of patients across the country could benefit from quicker, earlier diagnoses and more effective treatments for a range of conditions - as the government invests nearly £16 million into pioneering artificial intelligence research (AI).

3 Mar 2023

Product development and drug delivery at Seda

In this interview, NewsMedical speaks with Shanoo about her career progression and role in Seda Pharmaceutical regarding product development and drug delivery. She also outlines some of the services that Seda offers.

From Seda Pharmaceutical Development Services 1 Mar 2023

Largest genomic study focuses on the prognosis of metastatic pheochromocytomas

Pheochromocytoma is a rare tumor, with an incidence of three to eight cases per million population per year.

28 Feb 2023

New clinician toolkit aims to close the gaps in diagnosis of interstitial lung diseases

The expert steering committee for Bridging Specialties: Timely Diagnosis for ILD is encouraging primary care and pulmonary clinicians to come together on Rare Disease Day (February 28) to explore ways to shorten the time to diagnosis for pulmonary fibrosis and other interstitial lung diseases.

28 Feb 2023

Mutation in a single non-coding gene found to be the source of multisystemic smooth muscle dysfunction syndrome

A team of investigators from Massachusetts General Hospital, a founding member of Mass General Brigham and Mass General for Children has identified - for the first time - the mutation in a single non-coding gene of a young patient responsible for the extremely rare disease known as multisystemic smooth muscle dysfunction syndrome, which causes profound cerebrovascular, gastrointestinal and urologic impairment.

28 Feb 2023

Rare Disease News and Research

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

Study endeavors to strengthen genomic diagnosis of rare pediatric diseases in the United Kingdom and Ireland

New treatment pathway identified for patients with idiopathic nephrotic syndrome

The drug company that prospered without creating any drugs

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

The emergence of tanapox in South Africa, 2022

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

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

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

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

Upgraded tumor model points the way toward more effective cancer therapies

Computational analysis of large genetic datasets reveals rare disease etiologies

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

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

Nirogacestat shows promising results in patients with desmoid tumors

Government funding to accelerate research in AI healthcare technologies

Product development and drug delivery at Seda

Largest genomic study focuses on the prognosis of metastatic pheochromocytomas

New clinician toolkit aims to close the gaps in diagnosis of interstitial lung diseases

Mutation in a single non-coding gene found to be the source of multisystemic smooth muscle dysfunction syndrome

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

Expanding access to NMR with the Fourier 80 Duo

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