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Scientists propose therapeutic strategy to suppress formation of hereditary bony tumors

Patients with multiple hereditary exostoses (MHE)--a rare disease that causes the growth of multiple benign bone tumors -- have limited treatment options.

3 Aug 2017

FDA gives its nod to new drug Imbruvica (Ibrutinib) for chronic Graft versus Host Disease

The U.S. Food and Drug Administration (FDA) yesterday in a press release informed about the approval of Imbruvica (ibrutinib) for the treatment of adult patients with chronic graft versus host disease (cGVHD) who have previously failed with one or more treatment. This is the first drug that the FDA has given its approval to in this disease condition.

2 Aug 2017

Researchers examine affected canines to help develop effective treatment for children with rare epilepsy

The research, published in PLOS ONE, has identified the progression of Lafora disease, a devastating form of epilepsy which affects up to 50 young children worldwide.

2 Aug 2017

Drug puts a $750,000 ‘price tag on life’

Jana Gundy and Amanda Chaffin live within two hours of each other in Oklahoma. Each has a child with the same devastating disease, one that robs them of muscle strength, affecting their ability to sit, stand or even breathe.

2 Aug 2017

Living in rural households lowers person's risk of developing IBD, study finds

Living in rural households decreases a person's risk of developing inflammatory bowel disease (IBD), particularly for young children and adolescents, according to a new study by researchers at the Children's Hospital of Eastern Ontario Research Institute, Institute for Clinical Evaluative Sciences, and the Canadian Gastro-Intestinal Epidemiology Consortium.

25 Jul 2017

Established therapeutic drugs may be effective against childhood dementia

Although dementia is most often seen in adults, childhood or adolescent dementia does occur. A team of researchers from the University of Würzburg believes that established therapeutic drugs might be effective against childhood dementia.

24 Jul 2017

NIH researchers show how investigational drug works against rare, fatal genetic disease

Scientists have demonstrated how an investigational drug works against a rare, fatal genetic disease, Niemann-Pick type C1 (NPC1).

17 Jul 2017

Study identifies new gene involved in Fanconi anemia

Researchers from the group led by UAB Chair Professor Dr Jordi Surrallés at the Hospital de la Santa Creu i Sant Pau, Barcelona, the Universitat Autònoma de Barcelona and the CIBER of Rare Diseases participated in a study which has led to the identification of a new gene involved in Fanconi anemia, a rare genetic disease.

17 Jul 2017

Mayo Clinic and nference launch startup to develop drugs for rare diseases

Today, Mayo Clinic and nference launch a startup company for drug development that will be powered by clinical expertise and artificial intelligence (AI).

14 Jul 2017

Whichever way ‘repeal and replace’ blows, pharma is due for windfall

The pharmaceutical industry could see windfall profits from a little-noticed tweak to the insurance market tucked into the Trump administration's draft executive order on drug prices, experts say.

12 Jul 2017

New treatment receives FDA approval to reduce complications of sickle cell disease

The U.S. Food and Drug Administration today approved Endari (L-glutamine oral powder) for patients age five years and older with sickle cell disease to reduce severe complications associated with the blood disorder.

7 Jul 2017

Study opens new range of therapeutic options for patients with atypical Rett syndrome

A translational, multicenter study carried out by research groups of the Bellvitge Biomedical Research Institute, San Juan de Dios Hospital, the University of Barcelona, Clinic Hospital, the University of Vic, Santa Creu i Sant Pau Hospital and the thematic area of Rare Diseases, has unveiled the potential of D-serine -- a dietary supplement -- to improve the neuronal function of a patient with a mutation of the glutamate receptors associated to atypical Rett syndrome with severe encephalopathy.

4 Jul 2017

FDA to expedite orphan drug processing queues

In a press release the U.S. Food and Drug Administration (FDA) released a plan for eliminating the backlog regarding orphan drug application status and also released plans for deadlines to clear the queues.

29 Jun 2017

Safe under the ACA, patients with preexisting conditions now fear bias

Cheasanee Huette, a 20-year-old college student in Northern California, is worried. Two years ago, knowing she was protected by the Affordable Care Act's guarantees of coverage for preexisting conditions, she decided to find out if she carried the same genetic mutation that eventually killed her mother.

29 Jun 2017

Scientists discover link between sugar metabolism and peroxisomal biogenesis disorders

Meeting a young patient with Zellweger syndrome, a rare, life-threatening genetic disease, started a scientific investigation that culminated with an unexpected discovery.

23 Jun 2017

Researchers identify new disease gene for early-onset axonal neuropathy and mild intellectual disability

Research group from the University of Helsinki, Finland, has identified a new disease gene for early-onset axonal neuropathy and mild intellectual disability through an international research network, which was brought together by "Tinder for geneticists".

20 Jun 2017

Blocking newly discovered cellular pathway could help control tumor growth

Scientists have discovered a new cellular pathway that can promote and support the growth of cancer cells. In a mouse model of melanoma, blocking this pathway resulted in reduction of tumor growth.

15 Jun 2017

When an insurer balks and treatment stops

Gillen Washington, a student at Northern Arizona University, had been getting medication for an immunodeficiency disease since 2011. But when he went to his clinic in November 2014 for the monthly dose, a nurse told him his insurance company had denied it.

7 Jun 2017

Statin medications can cause necrotizing myopathy in some patients

Statin medications, such as Crestor, Lipitor, and other lipid-lowering medications, have been prescribed increasingly in recent years to reduce cardiovascular disease and mortality in high risk individuals.

6 Jun 2017

Insilico Medicine launches personalized drug discovery platform to develop new treatments for ALS

Today, Insilico Medicine, Inc., a company applying the latest advances in deep learning to biomarker development, drug discovery and aging research, launched ALS.AI, a personalized drug discovery and biomarker development platform utilizing the latest advances in deep learning.

1 Jun 2017

Rare Disease News and Research

Scientists propose therapeutic strategy to suppress formation of hereditary bony tumors

FDA gives its nod to new drug Imbruvica (Ibrutinib) for chronic Graft versus Host Disease

Researchers examine affected canines to help develop effective treatment for children with rare epilepsy

Drug puts a $750,000 ‘price tag on life’

Living in rural households lowers person's risk of developing IBD, study finds

Established therapeutic drugs may be effective against childhood dementia

NIH researchers show how investigational drug works against rare, fatal genetic disease

Study identifies new gene involved in Fanconi anemia

Mayo Clinic and nference launch startup to develop drugs for rare diseases

Whichever way ‘repeal and replace’ blows, pharma is due for windfall

New treatment receives FDA approval to reduce complications of sickle cell disease

Study opens new range of therapeutic options for patients with atypical Rett syndrome

FDA to expedite orphan drug processing queues

Safe under the ACA, patients with preexisting conditions now fear bias

Scientists discover link between sugar metabolism and peroxisomal biogenesis disorders

Researchers identify new disease gene for early-onset axonal neuropathy and mild intellectual disability

Blocking newly discovered cellular pathway could help control tumor growth

When an insurer balks and treatment stops

Statin medications can cause necrotizing myopathy in some patients

Insilico Medicine launches personalized drug discovery platform to develop new treatments for ALS

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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