Mathew Shanley

The ipsogen JAK2 RGQ PCR Kit received clearance from the U.S. FDA for additional use in the diagnosis of all myeloproliferative neoplasms.

On his personal website Monday, legendary musician Neil Diamond revealed that he has been diagnosed with Parkinson’s disease.

BERG announced this morning that the U.S. FDA has granted orphan drug designation to the company’s leading product candidate BPM31510 (ubidecarenone) for the treatment of pancreatic cancer.

This morning, Sobi, announced that the FDA has issued a Study may proceed letter for the first study in humans, thereby accepting the investigational new drug application for sobi003, and the regulatory agency granted Fast Track status to the product candidate.

Marshall Summar, M.D., director of the Children’s National Rare Disease Institute, sat down with Rare Disease Report to discuss recent news and what it means for the rare disease community.

To kick off the new year, Alnylam Pharmaceuticals, Inc., a company dedicated to the development of RNAi therapeutics, announced the expansion of its Alnylam Act.

uniQure was granted Orphan Medicinal Product Designation from the European Medicines Agency for AMT-130, an investigational gene therapy for the treatment of Huntington’s disease.

Engineers from the Engineering Faculty at the University of Sheffield and Boston Children’s Hospital, Harvard Medical School have created a robot with the intention of esophageal atresia .

Arimoclomol, in development by Danish biotech Orphazyme A/S for the treatment of Niemann-Pick Disease Type C, was granted rare pediatric disease designation by the U.S. FDA this morning.

New research published in Annals of Internal Medicine shows that the rate of arterial and venous thrombosis was significant in patients with myeloproliferative neoplasms (MPNs).

In 2018, uniQure N.V. expects to advance the clinical development of AMT-130, its investigational gene therapy for the treatment of Huntington’s disease.

Last night, the U.S. FDA approved the supplemental New Drug Application to add overall survival data from the Phase 3 head-to-head ENDEAVOR trial to the Prescribing Information for Kyprolis (carfilzomib).

This morning, Novartis was granted U.S. FDA Priority Review for the drug in patients with relapsed or refractory diffuse large B-cell lymphoma who are ineligible for or relapse after autologous stem cell transplant (ASCT).

The FDA has accepted for review supplemental Biologics License Application for Ruconest for routine prophylaxis to prevent attacks in adult and adolescent patients with hereditary angioedema, Pharming Group N.V. reported this morning.

Ipsen and Exelixis, Inc. announced detailed results of the pivotal phase 3 CELESTIAL trial, evaluating cabozatinib in previously treated patients with advanced hepatocellular carcinoma.

NORD, the leading nonprofit organization dedicated to helping Americans with rare diseases, announced this morning that its 7,000 Mile Rare Movement will be kicking off this year’s celebration.

This morning, Novartis announced that the U.S. FDA has accepted its Biologics License Application for the proposed biosimilar adalimumab to the reference medicine, Humira, developed by AbbVie, Inc.

Today, Eiger BioPharmaceuticals announced that results from the Phase 2 LIBERTY study demonstrated no improvement overall in its Phase 2 PAH treatment study, evaluating the effects of ubenimex.

Boehringer Ingelheim announced the approval of a new indication for afatinib, as the U.S. FDA approved a supplemental NDA for the first-line treatment of patients with metastatic NSCLC whose tumors have non-resistant EGFR mutations.

Filmmaker Kumail Nanjiani opened up on Twitter – perhaps more candidly than ever before – after his wife's mother found an old hospital badge.

Almost exactly one year after it received Orphan Drug Designation in the EU, Benitec has been granted Orphan Drug Designation for its product BB-301, which is being developed to treat oculopharyngeal muscular dystrophy, by the U.S. FDA.

The U.S. Food and Drug Administration has approved a third indication for olaparib tablets (Lynparza).

Results from a study report that behavioral interventions, like environmental enrichment, can reduce the functional deficit experienced by patients with Rett syndrome.

Retrophin has committed $3 million over the next 6 years to support the work of the Children’s National Rare Disease Institute, the first Center of Excellence for the National Organization for Rare Disorders.

Roaming monkeys in Florida are being removed by the state’s wildlife managers because of the growing fear that they are excreting a virus that can be dangerous to humans.

At the 36th Annual J.P. Morgan Healthcare Conference, uniQure announced that in 2018, the company intends to advance its gene therapy AMT-061 into a pivotal study for hemophilia B.

Data published in the Orphanet Journal of Rare Diseases suggests that endurance training could have a positive impact in Huntington’s disease patients, much like it has in anyone else.

Earlier this week, NuMedii, Inc. announced the official formation of an Idiopathic Pulmonary Fibrosis (IPF) Advisory Board.

Avadel Pharmaceuticals announced this morning that FT 218, its once-nightly product for the treatment of narcolepsy, has been granted Orphan Drug Designation by the U.S. Food and Drug Administration.

On Tuesday, University of Central Florida (UCF) senior linebacker Shaquem Griffin became the 10th winner of the prestigious Rare Disease Champion Award.