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Dell extends partnership with TGen to globally expand precision medicine trial for pediatric cancer

Dell today announced its extended partnership with the Translational Genomics Research Institute to help clinical researchers and doctors globally expand the reach and impact of the world's first Food and Drug Administration-approved precision medicine trial for pediatric cancer.

11 Jun 2015

Manchester first to implement Congenica's Sapientia technology to provide fast, accurate diagnosis for genetic diseases

10,000 new patients a year are treated by the Manchester Centre for Genomic Medicine (MCGM) for a range of rare diseases including cancers, developmental disorders and disabilities including hearing and vision loss - diagnosis can be time-consuming and invasive.

10 Jun 2015

Frankfurt researchers decode molecular details that provide better understanding of neurodegenerative diseases

Quality control is important - this is not only applicable to industrial production but also true for all life processes. However, whereas an enterprise can start a large-scale recall in case of any doubt, defects in the quality control systems of cells are often fatal.

9 Jun 2015

Regulus Therapeutics begins RG-012 Phase I clinical study for treatment of Alport syndrome

Regulus Therapeutics Inc., a biopharmaceutical company leading the discovery and development of innovative medicines targeting microRNAs, announced today that dosing has begun in a first-in-human Phase I clinical study of RG-012, a single stranded, chemically modified oligonucleotide that binds to and inhibits the function of microRNA-21 ("miR-21").

4 Jun 2015

EMA, ESMO and RCE joint workshop focuses on rare cancers and chordoma

To date, there is no drug approved for medical therapy of chordoma patients. Supporting research for chordoma (a very rare cancer arising from the skull base or the spine and affecting only one person in a million per year) was the focus of talks that took place on 30 April 2015 at the European Medicines Agency in London. The workshop was attended by patients, oncologists, pathologists, regulators, statisticians and industry representatives.

4 Jun 2015

Trabectedin may be better than dacarbazine for treatment of soft tissue sarcoma

Janssen Research & Development, LLC announced data from the Phase 3 multicenter study SAR3007, which demonstrated a significant improvement in progression-free survival with trabectedin (YONDELIS®) compared to dacarbazine in patients with advanced liposarcoma (LPS) or leiomyosarcoma (LMS) previously treated with an anthracycline and at least one additional chemotherapy regimen.

2 Jun 2015

Study: Drugs that block NPC1 protein could be used to treat Ebola virus disease

A new study has demonstrated that a protein called Niemann-Pick C1 (NPC1) is critical for the Ebola virus to infect a host. The study, published in the May/June issue of mBio, the online open-access journal of the American Society for Microbiology, suggests that drugs that block NPC1 could be used to treat this deadly disease.

27 May 2015

Mast Therapeutics initiates Phase 3 extension study of vepoloxamer in sickle cell disease

Mast Therapeutics, Inc., a clinical-stage biopharmaceutical company leveraging its molecular adhesion and sealant technology (MAST) platform to develop novel therapies for sickle cell disease, heart failure, and arterial disease, today reported that it has initiated an open-label, multicenter Phase 3 extension study of vepoloxamer (MST-188) in sickle cell disease, referred to as "EPIC-E."

26 May 2015

Alizé Pharma presents clinical results from the AZP-531 program at the ADA 75th Scientific Sessions

Detailed data will be presented from the two Phase I trials conducted in 76 healthy volunteers and overweight or obese subjects...

26 May 2015

CORD calls upon governments, others to join forces to make Canada's Rare Disease Strategy a reality

Today, on Parliament Hill, the Canadian Organization for Rare Disorders released Canada's Rare Disease Strategy and called upon the federal, provincial and territorial governments along researchers, healthcare providers, educators, employers, and the patient community to join forces to make the Strategy a reality.

26 May 2015

Lafora rare disease could be aggravated by oxidative stress

Neurodegenerative Lafora disease usually becomes apparent through seizures during adolescence and puberty and occurs as a consequence of defects in glycogen metabolism and in the cellular mechanisms that are responsible for its disposal. Researchers at the University of Valencia have led a study in which they propose that Lafora rare disease could be aggravated by oxidative stress.

22 May 2015

Alnylam files clinical trial application for alpha-1 liver disease, presents data at DDW

Alnylam Pharmaceuticals, Inc. has announced that it has filed a Clinical Trial Application (CTA) with the U.K. Medicines and Healthcare products Regulatory Agency (MHRA) to initiate a Phase 1/2 clinical trial with ALN-AAT, a subcutaneously administered investigational RNAi therapeutic targeting alpha-1 antitrypsin (AAT) for the treatment of AAT deficiency-associated liver disease (alpha-1 liver disease).

19 May 2015

Global survey finds gap in physicians' understanding on impact of lupus on patients' lives

As many people in the lupus community prepare to come together in support of World Lupus Day (May 10), a global survey shows that systemic lupus erythematosus (SLE) patients have difficulty describing their symptoms to their physicians, which leads to a gap in physicians understanding the full impact the illness has on patients' lives.

11 May 2015

Gene therapy is key to addressing Sanfilippo Syndrome, say Ohio scientists and clinicians

Gene therapy is the delivery of DNA into a patient's cells to replace faulty or missing genes—or adds new genes—in an attempt to cure cancer or make changes so the body is better able to fight off disease. Scientists and clinicians have identified a number of different ways to do this, in an effort to correct malfunctioning or mutated genes. Many gene therapy clinical trials are ongoing to assess the safety and potential benefits in patients with rare diseases.

8 May 2015

Stanford University professor named recipient of 2015 ECOG-ACRIN Young Investigator Award

Heather Wakelee, MD, is the recipient of the 2015 ECOG-ACRIN Young Investigator Award, the ECOG-ACRIN Cancer Research Group announced today. Dr. Wakelee is associate professor of medicine in the Division of Oncology at the Stanford University School of Medicine in Stanford, Calif.

7 May 2015

Partners congratulate researchers on forming new biotechnology company

The Children's Hospital of Eastern Ontario, The Ottawa Hospital, the University of Ottawa and McMaster University congratulate its researchers on forming Turnstone Biologics Inc., a biotechnology company focused on developing new treatments for cancer that harness the patient's own immune system.

6 May 2015

Tuberous Sclerosis Alliance to observe fourth annual TSC Global Awareness Day

On May 15, the Tuberous Sclerosis Alliance (TS Alliance) will join tuberous sclerosis complex (TSC) organizations around the world to observe the fourth annual TSC Global Awareness Day.

5 May 2015

aTyr's Resolaris granted FDA Orphan Drug Designation for treatment of FSHD

aTyr Pharma, a biotherapeutics company engaged in the discovery and development of Physiocrine-based therapeutics to address rare diseases, announced today that Resolaris has been granted Orphan Drug Designation by the U.S. Food and Drug Administration for the treatment of facioscapulohumeral muscular dystrophy (FSHD).

27 Apr 2015

Stem cell disease model reveals how tumor suppressor may drive bone cancer

Using induced pluripotent stem cells (iPSCs), a team led by Mount Sinai researchers has gained new insight into genetic changes that may turn a well known anti-cancer signaling gene into a driver of risk for bone cancers, where the survival rate has not improved in 40 years despite treatment advances.

10 Apr 2015

Prolong Pharmaceuticals' SANGUINATE granted FDA Orphan Drug Designation for SCD treatment

Prolong Pharmaceuticals, LLC, a biopharmaceutical company dedicated to developing products for the treatment of anemias, cancers and their debilitating comorbidities, announced today that the U.S. Food and Drug Administration has granted Orphan Drug Designation for its flagship product SANGUINATE for the treatment of Sickle Cell Disease (SCD).

8 Apr 2015

Rare Disease News and Research

Dell extends partnership with TGen to globally expand precision medicine trial for pediatric cancer

Manchester first to implement Congenica's Sapientia technology to provide fast, accurate diagnosis for genetic diseases

Frankfurt researchers decode molecular details that provide better understanding of neurodegenerative diseases

Regulus Therapeutics begins RG-012 Phase I clinical study for treatment of Alport syndrome

EMA, ESMO and RCE joint workshop focuses on rare cancers and chordoma

Trabectedin may be better than dacarbazine for treatment of soft tissue sarcoma

Study: Drugs that block NPC1 protein could be used to treat Ebola virus disease

Mast Therapeutics initiates Phase 3 extension study of vepoloxamer in sickle cell disease

Alizé Pharma presents clinical results from the AZP-531 program at the ADA 75th Scientific Sessions

CORD calls upon governments, others to join forces to make Canada's Rare Disease Strategy a reality

Lafora rare disease could be aggravated by oxidative stress

Alnylam files clinical trial application for alpha-1 liver disease, presents data at DDW

Global survey finds gap in physicians' understanding on impact of lupus on patients' lives

Gene therapy is key to addressing Sanfilippo Syndrome, say Ohio scientists and clinicians

Stanford University professor named recipient of 2015 ECOG-ACRIN Young Investigator Award

Partners congratulate researchers on forming new biotechnology company

Tuberous Sclerosis Alliance to observe fourth annual TSC Global Awareness Day

aTyr's Resolaris granted FDA Orphan Drug Designation for treatment of FSHD

Stem cell disease model reveals how tumor suppressor may drive bone cancer

Prolong Pharmaceuticals' SANGUINATE granted FDA Orphan Drug Designation for SCD treatment

Sensing a Healthier Future

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

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