Why a Sports Physical May Trigger a Doctor to Think About a Rare Diagnosis

Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Though people with the disease can look long and lean and ideal for certain sports, strenuous activity can be dangerous because the disease can cause enlargement of the aorta and lead to sudden…Continue Reading

Rare Leader: Carrie Ostrea, Executive Director of NGLY1.Org

The Basics Name: Carrie Ostrea Title: Executive Director Organization: NGLY1.org Disease focus: N-glycanase deficiency, or NGLY1 deficiency, is an extremely rare genetic disorder in which both copies of a patient’s NGLY1 gene contain mutations. It is a progressive condition, and no cure is currently available. This gene holds the information…Continue Reading

What Works When You Need to Crowdfund for Sequencing

The cost of whole exome sequencing has fallen rapidly, but even though it can represent the fastest path to a clear diagnosis for patients with a rare genetic disease, the cost remains prohibitive for many families and one that is not typically covered by health…Continue Reading

Gottlieb Calls for $400 Million in Expanded FDA Funding in Part to Stimulate Investment in Rare Diseases

Rare Daily Staff U.S. Food and Drug Administration Commissioner Scott Gottlieb called for developing clinical trial networks to improve the understanding of the natural history and clinical outcomes of rare diseases as part a series of initiatives that would be supported by an estimated $400…Continue Reading

UPenn’s Orphan Disease Center Takes a Rare Approach

    Rare disease centers at academic institutions are usually places that focus on early-stage research of faculty members, but the Orphan Disease Center at the University of Pennsylvania’s Perelman School of Medicine takes a multidimensional approach to address the needs or the rare disease…Continue Reading

Global Genes Rare Disease Stock Index Jumps 8.92% for Week as Market Rebounds

The Global Genes Rare Disease Stock Index rose 8.92 percent as the market rebounded after the recent sell-off. The index outoutperformed the major indices for the week and no is up 9.53 percent for the year.  INDEX 2017 Close 2/2/2018 2/9/2018 Week Change YTD CHANGE GLOBAL…Continue Reading

FDA Grants Priority Review for Genentech’s Rituxan for Rare Autoimmune Condition

Rare Daily Staff The U.S. Food and Drug Administration granted Genentech priority review status for its application to expand approved uses of its rheumatoid arthritis drug Rituxan to include it as a treatment for pemphigus vulgaris, a life-threatening, autoimmune condition with limited treatment options. Pemphigus…Continue Reading

PCORI Awards $50K to International WAGR Syndrome Association for Conference on Wilms Tumor

Rare Daily Staff The Eugene Washington PCORI Engagement Awards program, an initiative of the Patient Centered Outcomes Research Institute has awarded the International WAGR Syndrome Association $50,000 in funding to support its Conference on Wilms Tumor in WAGR Syndrome. The project will bring researchers and…Continue Reading

Tremeau Closes $5.2 Million Equity Round to Repurpose Vioxx for Rare Diseases

Rare Daily Staff Tremeau Pharmaceuticals said that it raised a total of $5.2 million in its first equity round to advance its pipeline of non-opioid pain treatment candidates for patients with rare diseases. “The feedback from the patient, medical, and investor communities regarding our strategy…Continue Reading

Oxford BioMedica Enters Gene Therapy Collaboration with Bioverativ Worth up to $105M

Rare Daily Staff Oxford BioMedica entered into a collaboration and license agreement worth up to $105 million with Bioverativ for the development and manufacturing of lentiviral vectors to treat hemophilia. The agreement includes a license to use Oxford’s LentiVector-enabled technology and access to its industrial-scale…Continue Reading

ProQR Enters $7.5 million Partnership with Foundation Fighting Blindness to Develop Usher Syndrome Therapy

Rare Daily Staff The Foundation Fighting Blindness and ProQR have entered into a partnership that will provide the company up to $7.5 million to develop QR-421a, an experimental treatment for Usher syndrome type 2A, a genetic disease that causes hearing loss and progressive vision loss.…Continue Reading

Vertex Wins FDA Approval for Symdeko to Treat CFTR Gene

Rare Daily Staff The U.S. Food and Drug Administration approved Vertex Pharmaceuticals’ Symdeko for cystic fibrosis patients 12 and older who have two copies of the F508del mutation in the CFTR gene or at least one mutation that is responsive to medicine. It is Vertex’s…Continue Reading