Rare Disease News and Research

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New insights regarding challenges in rare disease diagnosis, drug approval, and patient access

Value in Health, the official journal of ISPOR, announced today the publication of a series of articles offering important insight regarding the challenges in rare disease diagnosis, drug approval, and patient access.

17 May 2018

Familial Chylomicronemia Syndrome: How HCP’s can Support Patients with Rare Diseases

Dr Robert Cramb gives an introduction to the rare disease FCS, and how HCP's can best advise and support patients with the condition.

15 May 2018

Adding chemotherapy to treatment regimen can give children with PVS a chance to grow up

Pulmonary vein stenosis (PVS) is a rare disease in which abnormal cells build up inside the veins responsible for carrying oxygen-rich blood from the lungs to the heart. It restricts blood flow through these vessels, eventually sealing them off entirely if left untreated.

11 May 2018

Phase 2 study of dexpramipexole in hypereosinophilic syndromes meets its co-primary endpoints

Knopp Biosciences LLC today announced the publication of a report in the journal Blood that a Phase 2 study of dexpramipexole in hypereosinophilic syndromes met its co-primary endpoints.

10 May 2018

New review of infants with congenital hyperinsulinism shows surgery benefits

A review of nearly 500 cases of infants with severe congenital hyperinsulinism who underwent partial or near-total removal of their pancreas for persistent hypoglycemia at Children's Hospital of Philadelphia showed that surgeons can cure virtually all patients with the focal, or localized, form of the rare genetic disease.

7 May 2018

Best reads of the week from Brianna Labuskes

Newsletter editor Brianna Labuskes, who reads everything on health care to compile our daily Morning Briefing, offers the best and most provocative stories for the weekend.

28 Apr 2018

Research leads to new potential treatment for Hereditary Hemorrhagic Telangiectasia

The work of researchers Francesc Viñals and Mariona Graupera at the Bellvitge Biomedical Research Institute - Catalan Institute of Oncology - University of Barcelona, together with Dr. Antoni Riera-Mestre, has led to a new potential treatment for Hereditary Hemorrhagic Telangiectasia or Rendu-Osler Syndrome, a rare disease that affects blood vessels and had no described treatment.

26 Apr 2018

Why are Antibiotics Overprescribed for Meningitis Treatment?

Meningitis is a relatively rare disease, with our estimates for the incidence of meningitis in the UK being about 3.2 cases of meningitis per 100,000 adults. Crucially, bacterial meningitis is linked to significant morbidity and mortality - up to 30% mortality in pneumococcal meningitis cases.

25 Apr 2018

Researchers discover new gene associated with aortic aneurysms

An interdisciplinary team of researchers has identified a new gene linked to human aortic aneurysms. By combining comprehensive genetic studies in the fruit fly, dataset searches and analysis of diseased human aortic tissue, the researchers shed light on mechanisms not previously known to be associated with this devastating disease.

24 Apr 2018

NuProbe to commercialize Wyss Institute's new technology to facilitate precision medicine

NuProbe Global will commercialize the Wyss Institute's DNA nanotechnology-based variant-detecting method as a fast, low-cost and multiplexed molecular diagnostic for different disease areas, including cancer and infectious diseases.

24 Apr 2018

FDA approves marijuana based medication for epilepsy treatment

An advisory panel from the United States Food and Drug Administration (FDA) has recommended the approval of a novel epilepsy drug that is made up of ingredients from marijuana. The agency normally follows the recommendations of the advisory panels regarding approvals and rejections of applications of new drugs. The recommendation statement came yesterday (19th April 2018).

19 Apr 2018

ATS Foundation and Insmed to provide $50,000 funding for NTM lung disease research

The ATS Foundation is pleased to announce a new ATS Foundation/Insmed Research Award in Non-Tuberculous Mycobacteria Lung Disease, which will provide one year of funding support in the amount of $50,000.

12 Apr 2018

NIH study uncovers genetic basis of 'dripping candle wax' bone disease

Researchers at the National Institutes of Health worked with 15 patients from around the world to uncover a genetic basis of "dripping candle wax" bone disease.

11 Apr 2018

Simple bedside test may help doctors diagnose certain degenerative brain diseases

A simple bedside test that matches a change in heart rate with a drop in blood pressure after a patient stands may help doctors diagnose certain degenerative brain diseases.

28 Mar 2018

Johns Hopkins researchers make great strides in understanding biology behind pulmonary hypertension

Working with cells that line the innermost layer of the blood vessels, Johns Hopkins investigators say they have made a leap forward in understanding the underlying biology behind pulmonary hypertension, a dangerous type of high blood pressure in lungs that ultimately leads to right heart failure and death.

27 Mar 2018

Scientists uncover new answers to cell aging in children with rare, fatal disease

In a recent paper published in Cell Reports, Saint Louis University researchers have uncovered new answers about why cells rapidly age in children with a rare and fatal disease.

20 Mar 2018

Study shows benefits of hair loss drug in improving cognitive function and vascular health

Minoxidil, a popular drug used on the scalp to treat hair loss, might improve blood flow to the brain, lower blood pressure and increase elasticity in the blood vessels if taken in an oral form, according to a new study in mice.

20 Mar 2018

Groundbreaking 100,000 Genomes Project achieves important milestone to transform NHS care

The Department of Health and Social Care, NHS England and Genomics England today announced reaching the 50,000 whole human genome sequences landmark within the 100,000 Genomes Project.

From Genomics England 20 Mar 2018

Wales participates in the 100,000 Genomes Project

Wales has joined the 100,000 Genomes Project, the Welsh Government announced today. The project, now a UK-wide initiative, seeks to transform patient care, encourage genomic discovery and drive a thriving genomics sector.

From Genomics England 20 Mar 2018

Genomics England announces new partnership to improve efficiency of next-generation sequencing analysis

Today (8 January 2018) at the annual J.P. Morgan Healthcare Conference, Edico Genome and Genomics England announced a new partnership to strengthen the accuracy and consistency of next-generation sequencing data analysis in Genomics England’s Rare Disease Pilot.

From Genomics England 20 Mar 2018

Rare Disease News and Research

New insights regarding challenges in rare disease diagnosis, drug approval, and patient access

Familial Chylomicronemia Syndrome: How HCP’s can Support Patients with Rare Diseases

Adding chemotherapy to treatment regimen can give children with PVS a chance to grow up

Phase 2 study of dexpramipexole in hypereosinophilic syndromes meets its co-primary endpoints

New review of infants with congenital hyperinsulinism shows surgery benefits

Best reads of the week from Brianna Labuskes

Research leads to new potential treatment for Hereditary Hemorrhagic Telangiectasia

Why are Antibiotics Overprescribed for Meningitis Treatment?

Researchers discover new gene associated with aortic aneurysms

NuProbe to commercialize Wyss Institute's new technology to facilitate precision medicine

FDA approves marijuana based medication for epilepsy treatment

ATS Foundation and Insmed to provide $50,000 funding for NTM lung disease research

NIH study uncovers genetic basis of 'dripping candle wax' bone disease

Simple bedside test may help doctors diagnose certain degenerative brain diseases

Johns Hopkins researchers make great strides in understanding biology behind pulmonary hypertension

Scientists uncover new answers to cell aging in children with rare, fatal disease

Study shows benefits of hair loss drug in improving cognitive function and vascular health

Groundbreaking 100,000 Genomes Project achieves important milestone to transform NHS care

Wales participates in the 100,000 Genomes Project

Genomics England announces new partnership to improve efficiency of next-generation sequencing analysis

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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