Rare Disease News and Research

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Scientists discover potential trigger for MDS in children with rare genetic disorder

Myelodysplastic syndrome is an umbrella term used to describe disorders characterized by the bone marrow's inability to produce normal blood cells.

12 Apr 2017

Prevention, not cure, may be key to stopping Alzheimer’s disease

It has been 111 years since Auguste D. became the first person described with what is now called Alzheimer's disease.

12 Apr 2017

Researchers achieve new step towards treatment of myotubular myopathy using gene therapy

A team of researchers in France, led by Dr. Ana Buj-Bello (Genethon/Inserm) and teams at the University of Washington and Harvard Medical School in the United States, achieved a new step towards the treatment of myotubular myopathy by gene therapy.

5 Apr 2017

Liver shows positive response to leptin therapy in patients with partial lipodystrophy, study finds

Researchers at Michigan Medicine have found the livers of patients with a rare disease that affects metabolism have responded positively to leptin therapy.

5 Apr 2017

Pioneering IVF technique offers hope to families with inheritable mitochondrial disorders

Details of a pioneering IVF technique using mitochondrial replacement therapy (MRT) have been revealed, giving hope to those families with inheritable mitochondrial disorders that they may be able to have healthy children in the future.

3 Apr 2017

Investigational compound for treating indolent lymphomas shows positive results in phase II clinical study

Bayer today announced positive data on its investigational compound copanlisib, an intravenous pan-Class I phosphatidylinositol-3-kinase (PI3K) inhibitor with predominant inhibitory activity against PI3K-α and PI3K-δ isoforms.

31 Mar 2017

Discovery of new genes linked to Erdheim-Chester disease provides hope for improving diagnoses

National Human Genome Research Institute researchers have identified new genes associated with the Erdheim-Chester disease and some possible new therapies. Findings on this ultra-rare disease, found in approximately 600 people in the world, were published in Blood Advances.

31 Mar 2017

FDA approves new maintenance therapy for recurrent cancers

The U.S. Food and Drug Administration today approved Zejula (niraparib) for the maintenance treatment (intended to delay cancer growth) of adult patients with recurrent epithelial ovarian, fallopian tube or primary peritoneal cancer, whose tumors have completely or partially shrunk (complete or partial response, respectively) in response to platinum-based chemotherapy.

27 Mar 2017

Article focuses on microwave-induced bismuth salts-mediated synthesis of useful organic compounds

Bismuth salts are used as medicinally active ingredients for the past many years due to their minimum toxicity and side effects

25 Mar 2017

NHGRI researchers use facial recognition software to diagnose rare genetic disease

Researchers with the National Human Genome Research Institute, part of the National Institutes of Health, and their collaborators, have successfully used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans.

24 Mar 2017

OTUD6B gene mutations linked to physical and intellectual deficits

An international team of researchers from institutions around the world, including Baylor College of Medicine, has discovered that mutations of the OTUD6B gene result in a spectrum of physical and intellectual deficits.

24 Mar 2017

FDA grants accelerated approval to new drug for treatment of rare form of skin cancer

The U.S. Food and Drug Administration today granted accelerated approval to Bavencio (avelumab) for the treatment of adults and pediatric patients 12 years and older with metastatic Merkel cell carcinoma (MCC), including those who have not received prior chemotherapy.

23 Mar 2017

Genome sequencing approach opens door to therapy options for rare, neglected cancers

An international team of scientists led by the Icahn School of Medicine at Mount Sinai and UConn School of Medicine have reported the results of a genome sequencing study for an extremely rare form of cancer.

23 Mar 2017

Study identifies urinary biomarker that may help monitor progression of ALS

A study in Neurology suggests that analyzing levels of the protein p75ECD in urine samples from people with amyotrophic lateral sclerosis (ALS) may help monitor disease progression as well as determine the effectiveness of therapies.

22 Mar 2017

Researchers use animal model to study brain abnormality in human TD patients

Thanatophoric dysplasia (TD) is an intractable disease designated by Ministry of Welfare, Health and Labor of Japan, causing severe abnormalities of bones and the brain.

17 Mar 2017

VUMC’s Undiagnosed Diseases Network solves medical mysteries using advanced technologies

It's human nature to need answers. Patients with debilitating symptoms need a diagnosis — somewhere to place the blame, a starting point to search for answers.

14 Mar 2017

Researchers discover genetic bases of Opitz C syndrome

Opitz C syndrome is a genetic disease that causes severe disabilities in patients and has been diagnosed in three people in the Iberian Peninsula, and sixty people in the world.

10 Mar 2017

Early treatment with heart failure drug can improve cardiac function in young boys with DMD

Researchers at The Ohio State University Ross Heart Hospital and Nationwide Children's Hospital have shown early treatment with the heart failure medication eplerenone can improve heart function in young boys with Duchenne muscular dystrophy (DMD) and stabilize heart function in older boys with the disease.

7 Mar 2017

New method to identify, sort stem cells may help restore vision to people with damaged corneas

Researchers working as part of the University of Georgia's Regenerative Bioscience Center have developed a new way to identify and sort stem cells that may one day allow clinicians to restore vision to people with damaged corneas using the patient's own eye tissue.

3 Mar 2017

New London Major Early-Phase Contract Research Center Opened on Rare Disease Day

Richmond Pharmacology, one of the UK’s leading early-phase contract research organisations, have today opened their new research facility in London Bridge – at the site formerly known as the Guy’s Drug Research Unit. The move is a significant boost to the UK’s efforts to continue to grow as a global hub for Life Sciences, an area of strategic importance outlined in the Government’s recent industrial strategy.

1 Mar 2017