Rare Disease News and Research

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Two thirds of IPF patients report being involved during the decision-making process for the most appropriate treatment

New results from a global survey of over 150 people living with idiopathic pulmonary fibrosis (IPF), a life-threatening rare lung disease, demonstrate that while many patients were involved in treatment decisions, opportunities exist to improve the level of dialogue between patients and healthcare professionals.

28 Feb 2017

Researchers discover rare deafness-dystonia syndrome in a family in Pakistan

A group of researchers from Pakistan, Europe and Singapore have identified and characterised a previously undiscovered rare deafness-dystonia syndrome in a family living in a remote region of Pakistan.

28 Feb 2017

Scientists propose potential new treatment for Gaucher disease

Scientists propose in Nature blocking a molecule that drives inflammation and organ damage in Gaucher and maybe other lysosomal storage diseases as a possible treatment with fewer risks and lower costs than current therapies.

23 Feb 2017

UMass Amherst study highlights unmet drug needs of patients with rare diseases

A new analysis by health policy researchers at the University of Massachusetts Amherst who studied the effectiveness of the 1983 Orphan Drug Act finds that current incentives "are not sufficiently stimulating orphan drug development" by pharmaceutical companies, and patients with rare diseases and conditions still have unmet needs. Further, barriers to ethical and timely access remain.

16 Feb 2017

Combination of drugs amplifies kill rates of brain cancer tumours in mice

A promising combination of immunotherapies delivers a one-two punch to brain cancer tumours with high cure rates in mice, scientific evidence published in Nature Communications today says.

15 Feb 2017

Study provides new insight into causes of rare metabolic disorder

Just before Rare Disease Day 2017, a study from the Monell Center and collaborating institutions provides new insight into the causes of trimethylaminura, a genetically-transmitted metabolic disorder that leads to accumulation of a chemical that smells like rotting fish.

14 Feb 2017

Penn Medicine's ODC collaborates with FAST to develop gene therapy for Angelman syndrome

Penn Medicine's Orphan Disease Center announces a new partnership with FAST to study gene therapy approaches to treat Angelman syndrome.

14 Feb 2017

Review shows lipid nanoparticles as highly promising delivery systems in gene therapy

Lipid nanoparticles (SLNs and NLCs) are regarded as highly promising systems for delivering nucleic acids in gene therapy.

14 Feb 2017

Research suggests new type of congenital muscular dystrophy

A newly discovered mutation in the INPP5K gene, which leads to short stature, muscle weakness, intellectual disability, and cataracts, suggests a new type of congenital muscular dystrophy.

10 Feb 2017

FDA approves new treatment for wide range of patients with Duchenne muscular dystrophy

The U.S. Food and Drug Administration today approved Emflaza (deflazacort) tablets and oral suspension to treat patients age 5 years and older with Duchenne muscular dystrophy (DMD), a rare genetic disorder that causes progressive muscle deterioration and weakness.

9 Feb 2017

Researchers create first animal model of rare disease linked to problem of adrenal glands

The name of the gene is Armc5, for Armadillo repeat containing 5. Until now, its function was unknown. After 10 years of research, a team at the University of Montreal Hospital Research Centrehas succeeded in deleting this gene in experimental mice and discovered that its loss gives rise to a heretofore unidentified syndrome.

7 Feb 2017

Scientists discover treatment that improves symptoms in mouse model of juvenile Batten disease

Researchers at Baylor College of Medicine, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital and King's College London have discovered a treatment that improves the neurological symptoms in a mouse model of juvenile Batten disease.

6 Feb 2017

IQWiG assesses benefit of newborn screening for severe combined immunodeficiency

The German Institute for Quality and Efficiency in Health Care assessed the benefit of newborn screening for severe combined immunodeficiency (SCID).

30 Jan 2017

Repurposing existing drugs to treat rare diseases could improve outcomes, save money

Findacure, a rare diseases charity based in Cambridge, saysrepurposing existing drugs to treat rare diseases will improve patient outcomes and save the NHS money.

27 Jan 2017

New gene therapy for Pompe disease may replace currently available treatments

After decades investigating a rare, life-threatening condition that cripples the muscles, Duke Health researchers have developed a gene therapy they hope could enhance or even replace the only FDA-approved treatment currently available to patients.

27 Jan 2017

Sapientia genome analysis software by Congenica could cut costs and save lives

Whole genome analysis (WGA) enables rapid diagnosis of rare disease, ensuring that an appropriate course of management and treatment can be administered, possibly within days for acute neonatal cases, cutting the cost of intensive care and potentially saving lives. Rapid diagnosis is one of the many benefits of using the Sapientia™ genome analysis and interpretation platform that Dr Nick Lench, Chief Operating Officer of Congenica, will be discussing at Precision Medicine World Conference (PMWC) 2017 on January 23rd at 3.15pm.

23 Jan 2017

EMQ to showcase healthcare and life sciences project at Arab Health

Edgbaston Medical Quarter (EMQ) will be at Arab Health 2017 for the first time to showcase the healthcare and life sciences revolution taking place in the West Midlands, in the heart of the UK.

20 Jan 2017

Researchers explore ins and outs of genome sequencing in newborns

When you have a baby, a nurse or a phlebotomist performs a heel stick to take a few drops of blood from your infant and sends it off to a state lab for a battery of tests.

19 Jan 2017

First symptoms of meningitis

Thankfully, meningitis is a rare condition. Although it can occur in anyone, it's more prevalent in babies and young children, with young people and students being the next most at risk group. In the early stages, it can be very difficult to tell meningitis apart from milder diseases, as it often resembles other common viral illnesses. Symptoms of the disease can develop very quickly.

19 Jan 2017

New Apple ResearchKit app from Penn Medicine focuses on sarcoidosis patients

Penn Medicine today launched its first Apple ResearchKit app, focused on patients with sarcoidosis, an inflammatory condition that can affect the lungs, skin, eyes, heart, brain, and other organs.

17 Jan 2017

Rare Disease News and Research

Two thirds of IPF patients report being involved during the decision-making process for the most appropriate treatment

Researchers discover rare deafness-dystonia syndrome in a family in Pakistan

Scientists propose potential new treatment for Gaucher disease

UMass Amherst study highlights unmet drug needs of patients with rare diseases

Combination of drugs amplifies kill rates of brain cancer tumours in mice

Study provides new insight into causes of rare metabolic disorder

Penn Medicine's ODC collaborates with FAST to develop gene therapy for Angelman syndrome

Review shows lipid nanoparticles as highly promising delivery systems in gene therapy

Research suggests new type of congenital muscular dystrophy

FDA approves new treatment for wide range of patients with Duchenne muscular dystrophy

Researchers create first animal model of rare disease linked to problem of adrenal glands

Scientists discover treatment that improves symptoms in mouse model of juvenile Batten disease

IQWiG assesses benefit of newborn screening for severe combined immunodeficiency

Repurposing existing drugs to treat rare diseases could improve outcomes, save money

New gene therapy for Pompe disease may replace currently available treatments

Sapientia genome analysis software by Congenica could cut costs and save lives

EMQ to showcase healthcare and life sciences project at Arab Health

Researchers explore ins and outs of genome sequencing in newborns

First symptoms of meningitis

New Apple ResearchKit app from Penn Medicine focuses on sarcoidosis patients

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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