Latest Rare diseases Stories

Leading Patient Organizations Establish Partnership to Improve the Lives of Tens of Millions of Rare Disease Patients in Japan and the U.S.

2013-01-29 08:31:24

Japan Patients Association (JPA) and National Organization for Rare Disorders (NORD) to Collaborate Toward New Treatments and Improved Policies WASHINGTON, Jan. 29, 2013 /PRNewswire-USNewswire/ -- The Japan Patients Association (JPA) and the National Organization for Rare Disorders (NORD)--the primary organizations representing patients and families affected by rare diseases in Japan and the U.S.--announced today that they have signed a memorandum of understanding to collaborate and...

Cystinosis Community Takes Capitol Hill with Unified Voice for Rare Disease

2013-01-28 08:28:37

WASHINGTON, Jan. 28, 2013 /PRNewswire/ -- Today ten families of patients with a rare disease called cystinosis and three foundations supporting cystinosis research tell their stories to policymakers on Capitol Hill in an effort to educate lawmakers about rare diseases like cystinosis and how upcoming federal spending decisions could impact the availability of medicines for rare diseases. Cystinosis is a metabolic lysosomal storage disease that is diagnosed in infancy and often...

Lou Gehrig's Disease (ALS) Benefit Concert Set For Feb. 11 In San Diego

2013-01-25 12:22:52

SAN DIEGO, Jan. 25, 2013 /PRNewswire/ -- With a message of hope leading the way, singers from across the U.S. will join together to participate in the first-ever "Striking A Chord" concert, an ALS Association of San Diego benefit set for Feb. 11. In addition, an online auction of a wide range of donated items was kicked off today to bolster the event's fundraising efforts. The benefit concert is the idea of 12-year-old Megan Spector, a Carmel Valley Middle School student and...

Stem Cells May Hold Promise for Lou Gehrig's Disease (ALS)

2013-01-14 16:23:21

SAN DIEGO, Jan. 14, 2013 /PRNewswire-USNewswire/ -- Apparent stem cell transplant success in mice may hold promise for people with amyotrophic lateral sclerosis (ALS), or Lou Gehrig's disease. The results of the study will be presented at the American Academy of Neurology's 65th Annual Meeting in San Diego, March 16 to 23, 2013. "There have been remarkable strides in stem cell transplantation when it comes to other diseases, such as cancer and heart failure," said study author...

Kidneys Sometimes Removed Unnecessarily Due To Misdiagnosis Of Genetic Disorder

2013-01-11 13:23:29

Study shows drug can shrink tumors and save kidneys Thousands of individuals have had kidneys removed unnecessarily because doctors misdiagnosed their disease. A new, international study published in The Lancet indicates that approximately one of every five individuals with kidney tumors common in patients with tuberous sclerosis complex (TSC), a genetic disorder, has had a kidney removed. Moreover, 40 percent had some kind of surgical procedure performed. Proper diagnosis could have...

Phase III data in The Lancet show significant benefit of Novartis drug Afinitor® in patients with non-cancerous tumors associated with TSC

2013-01-10 20:21:54

EAST HANOVER, N.J., Jan. 10, 2013 /PRNewswire/ -- Data published today in The Lancet showed that patients on Afinitor(®) (everolimus) tablets with non-cancerous kidney tumors known as renal angiomyolipomas associated with tuberous sclerosis complex (TSC) experienced a significant reduction in tumor size and the absence of tumor progression(1). Additionally, a recent issue of The Lancet featured results from a separate everolimus trial demonstrating a reduction in the size of...

ALS Therapy Development Institute and to-BBB Collaborate on Potential Treatments for Motor Neuron Disease

2013-01-08 08:31:35

CNS-targeted Liposomal Drug Delivery System Enhances Institute's Formulation Abilities CAMBRIDGE, Mass. and LEIDEN, Netherlands, Jan. 8, 2013 /PRNewswire-USNewswire/ -- The ALS Therapy Development Institute (ALS TDI) announced today that it has entered into a new collaboration with to-BBB to investigate potential treatments for ALS (aka Motor Neuron or Lou Gehrig's disease). (Logo: http://photos.prnewswire.com/prnh/20110204/DC42625LOGO) "This partnership brings a new potential...

For Orphan Drug Act and NORD: A Day to Remember and Celebrate

2013-01-04 08:23:11

Rare Disease Patient Advocates Celebrate 30(th) Anniversary Today WASHINGTON, Jan. 4, 2013 /PRNewswire-USNewswire/ -- Thirty years ago today, President Ronald Reagan signed the Orphan Drug Act into law to encourage the development of treatments for the millions of Americans with rare diseases. (Logo: http://photos.prnewswire.com/prnh/20110719/DC37656LOGO-b) The new law represented a triumph of patient advocates working with government partners, the media, and other supporters to...

DioGenix Raises $1.5 Million in Series B Financing for Novel Molecular Diagnostic for Multiple Sclerosis, MSPrecise

2012-12-18 08:27:46

GAITHERSBURG, Md., Dec. 18, 2012 /PRNewswire/ -- Molecular diagnostics company DioGenix, Inc. today announced it raised $1.5 million in Series B financing. Existing investors including life sciences fund Nerveda LLC participated in the round to support a prospective, multi-site clinical trial to validate MSPrecise(TM), DioGenix' proprietary next-generation sequencing test for the early identification and diagnosis of multiple sclerosis (MS). In a recently completed study, MSPrecise...

uniQure Initiates Phase I in Acute Intermittent Porphyria

2012-12-11 04:21:28

AMSTERDAM, December 11, 2012 /PRNewswire/ -- uniQure B.V., a leader in the field of human gene therapy, today announced the start of its Phase I clinical trial in acute intermittent porphyria (AIP) with the treatment of the first patient. The study is conducted under the aegis of the AIPGENE consortium, a pan-European collaboration funded in part by the European Commission's Seventh Framework Program with the aim to develop a gene therapy for the treatment of AIP, a rare and...