Rare Disease News and Research

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Common drug for high blood pressure repurposed to treat soft tissue sarcoma in Europe

A drug that's commonly used to treat high blood pressure is being repurposed for a rare tissue cancer in Europe. The medication, named propranolol, was recently granted Orphan Drug Designation by the European Commission.

17 Jan 2017

Johns Hopkins researchers identify new biological target for treating spinal muscular atrophy

Johns Hopkins researchers along with academic and drug industry investigators say they have identified a new biological target for treating spinal muscular atrophy.

9 Jan 2017

British pharmaceutical wholesaler and distributor to attend Arab Health 2017 in Dubai

A British pharmaceutical wholesaler and distributor, who specialises in exporting overseas licensed, restricted and out of stock pharmaceuticals and speciality products for rare diseases, will attend Arab Health 2017.

6 Jan 2017

UNC Catalyst aims to provide knowledge and research tools to tackle rare diseases

Freely giving researchers the tools and knowledge to tackle rare and orphaned diseases is the mission of UNC Catalyst, a new endeavor the University of North Carolina at Chapel Hill has launched with a $2 million grant from the Eshelman Institute for Innovation.

5 Jan 2017

FDA approves first drug to treat children and adults with spinal muscular atrophy

The U.S. Food and Drug Administration today approved Spinraza (nusinersen), the first drug approved to treat children and adults with spinal muscular atrophy (SMA), a rare and often fatal genetic disease affecting muscle strength and movement.

23 Dec 2016

Scientists discover OGDHL and NRD1 genes linked to progressive loss of neurological function

An international team of scientists has discovered that the gene, OGDHL, a key protein required for normal function of the mitochondria -- the energy-producing factory of the cell -- and its chaperone, nardilysin (NRD1) are linked to progressive loss of neurological function in humans.

22 Dec 2016

FDA awards accelerated approval to new ovarian cancer drug

The U.S. Food and Drug Administration today granted accelerated approval to Rubraca (rucaparib) to treat women with a certain type of ovarian cancer.

19 Dec 2016

IPF diagnosis: how do patients feel about the discussion with their physician?

IPF (Idiopathic Pulmonary Fibrosis) is a difficult disease to diagnose. Many patients will experience many visits to the doctor and some may even be told they have a different respiratory condition before they finally get the correct diagnosis that...

12 Dec 2016

Scientists use unified analysis approach for diagnosing diseases with multiple genetic causes

Scientists at Baylor College of Medicine, Baylor Genetics, the University of Texas Health Science Center at Houston and Texas Children's Hospital are combining descriptions of patients' clinical features with their complex genetic information in a unified analysis to obtain more precise diagnoses of complex diseases, particularly those that involve more than one gene causing the condition.

8 Dec 2016

Experts discuss ways to integrate whole genome analysis into clinical practice at Congenica webinar

Whole genome analysis – where all of a patient’s genes are screened for potential disease causing variants – offers the potential for a rapid, responsive NHS testing service.

6 Dec 2016

Scientists discover molecular link between rare childhood genetic disease and major cancer gene

A team of researchers led by a University of Rhode Island scientist has discovered an important molecular link between a rare childhood genetic disease, Fanconi anemia, and a major cancer gene called PTEN.

1 Dec 2016

FDA approval of controversial drug for Duchenne muscular dystrophy raises concern and hope

In September, the Food and Drug Administration approved Exondys, a controversial treatment for Duchenne muscular dystrophy based on tenuous data from just 12 patients.

17 Nov 2016

Researchers identify heart defects in progeria patients that may raise risk of arrhythmias, premature death

Researchers at the Centro Nacional de Investigaciones Cardiovasculares Carlos III, working in collaboration with colleagues at other centers in Spain and abroad, have identified defects in the hearts of progeria patients that appear to be related to an elevated risk of arrhythmias and premature death.

2 Nov 2016

IU scientists find evidence for link between prostate cancer and Ewing's sarcoma

Medical researchers at Indiana University Bloomington have found evidence for a link between prostate cancer, which affects millions of men age 50 and older, and Ewing's sarcoma, a rare form of cancer that affects children and young adults.

25 Oct 2016

Scientists identify genetic cause and biological mechanisms linked to new human immunodeficiency

A multi-institutional, international team of scientists has discovered the genetic cause and biological mechanisms linked to a new human immunodeficiency. The study, which is published in Nature Immunology, also identifies a potential treatment.

24 Oct 2016

Congenica reports high diagnostic yields by Sapientia platform in UK 100,000 Genomes Project

Congenica, a clinical interpretation partner for the UK 100,000 Genomes Project, has announced that its whole genome analysis platform Sapientia™ is detecting clinically relevant variants in over 35% of diagnostics reports returned to the NHS Genomic Medicine Centres (GMCs) for the Pilot and Main Phase studies.

24 Oct 2016

Computer-adaptive tests to measure health-related quality of life in Huntington's disease patients

Huntington's disease is an inherited disease that leads to problems with movement, thinking and mood which can negatively affect an individual's quality of life.

21 Oct 2016

FDA approves new therapy for initial treatment of soft tissue sarcoma

The U.S. Food and Drug Administration today granted accelerated approval to Lartruvo (olaratumab) with doxorubicin to treat adults with certain types of soft tissue sarcoma (STS), which are cancers that develop in muscles, fat, tendons or other soft tissues.

19 Oct 2016

Common beta-blocker prescribed for heart conditions has anti-cancer properties, study shows

Propranolol, a beta-blocker commonly prescribed to treat irregular heart rates and other conditions, has significant anti-cancer properties, say researchers in a new clinical study published in ecancermedicalscience.

14 Oct 2016

Mayo Clinic recommends four ways physicians can use individualized medicine to treat patients

Individualized medicine is no longer the lore of science fiction. It is offering new hope for patients with cancer, heart disease, depression and rare diseases for which there historically have been no diagnosis or treatment. And that's just the beginning.

5 Oct 2016