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Novogen's Anisina granted FDA Orphan Drug Designation for neuroblastoma

US-Australian drug discovery company, Novogen Limited, today announced that it has received notification from the U.S. Food and Drug Administration that its chemotherapy candidate drug, Anisina, has been granted Orphan Drug Designation for neuroblastoma.

16 Jul 2015

Gene therapy used for sight restoration also strengthens visual pathways in the brain

Since 2007, clinical trials using gene therapy have resulted in often-dramatic sight restoration for dozens of children and adults who were otherwise doomed to blindness. Now, researchers from the Perelman School of Medicine at the University of Pennsylvania and The Children's Hospital of Philadelphia, have found evidence that this sight restoration leads to strengthening of visual pathways in the brain, published this week in Science Translational Medicine.

16 Jul 2015

New report on different treatment strategies for haemophilia published

Numerous long-term randomized controlled trials (RCTs) have been conducted to investigate the long-term, factor concentrate-based treatment of patients with severe haemophilia A or B, despite the rareness of the diseases and the lack of incentives for pharmaceutical companies.

14 Jul 2015

UM researchers discover new gene behind neurodegenerative conditions

Researchers at the University of Miami have discovered and characterized a previously unknown disease gene linked to the degeneration of optic and peripheral nerve fibers. The study titled "Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder" is published in the journal Nature Genetics.

14 Jul 2015

Canadian researchers launch world's first viral therapy clinical trial to attack and kill cancer cells

Canadian researchers have launched the world's first clinical trial of a novel investigational therapy that uses a combination of two viruses to attack and kill cancer cells, and stimulate an anti-cancer immune response. Previous research by this team and others worldwide suggests that this approach could be very powerful, and could have fewer side effects than conventional chemotherapy and radiation, although it will take years to rigorously test through this trial and others.

13 Jul 2015

New research identifies potential treatment for primary effusion lymphoma

New research from the University of Southern California Norris Comprehensive Cancer Center has identified a potential treatment for a rare but previously incurable form of lymphoma that is observed primarily in patients with HIV/AIDS infection.

8 Jul 2015

IRB Barcelona scientists provide molecular details about Seckel Syndrome

Today in Nature Communications, scientists at the Institute for Research in Biomedicine (IRB Barcelona) provide molecular details about Seckel Syndrome, a rare disease that causes microcephaly, or small brain, and growth delays.

8 Jul 2015

Researchers discover link between acute liver failure and specific gene mutations in young children

Acute liver failure is a rare yet life-threatening disease for young children. It often occurs extremely rapidly, for example, when a child has a fever. Yet in around 50 percent of cases it is unclear as to why this happens. Now, a team of researchers working on an international research project headed by Technische Universität München, the Helmholtz Zentrum Munich and Heidelberg University Hospital have discovered a link between the disease and mutations in a specific gene.

3 Jul 2015

Researchers establish link between NBAS gene and acute liver failure

Acute liver failure is a rare yet life-threatening disease for young children. It often occurs extremely rapidly, for example, when a child has a fever. Yet in around 50 percent of cases it is unclear as to why this happens. Now, a team of researchers working on an international research project headed by Technische Universität München (TUM), the Helmholtz Zentrum Munich and Heidelberg University Hospital have discovered a link between the disease and mutations in a specific gene.

2 Jul 2015

R. Rodney Howell receives ASHG’s annual Advocacy Award

The American Society of Human Genetics (ASHG) has named R. Rodney Howell, MD, Professor in the Department of Pediatrics, Chairman Emeritus of Pediatrics, and Member of the Hussman Institute for Human Genomics, at the University of Miami Leonard M. Miller School of Medicine, as the first recipient of its new, annual Advocacy Award.

1 Jul 2015

SNSF’s special programme aims to support clinical studies initiated by researchers

Physicians and drug developers do not always have the same research questions. The new special programme Investigator Initiated Clinical Trials (IICT) will enable independent clinical researchers to answer questions that are important for patients.

27 Jun 2015

Genetic Alliance, Claritas Genomics team up to help patients and families participate in rare disease research

Today Claritas Genomics and Genetic Alliance announced a partnership to help patients and families find and participate in relevant research opportunities that will advance understanding of individual genetic disorders and development of new therapies.

24 Jun 2015

Pediatric study looks at evidence-based predictors of biphasic allergic reactions

Children are more likely to have a repeat, delayed anaphylactic reaction from the same allergic cause, depending on the severity of the initial reaction. The first pediatric study to look at the predictors for this phenomenon was published today in Annals of Allergy, Asthma & Immunology.

22 Jun 2015

The Lancet Oncology publishes results of CYRAMZA (ramucirumab) Phase III trial for HCC treatment

Eli Lilly and Company announced that The Lancet Oncology has published results of the Phase III REACH trial that evaluated CYRAMZA (ramucirumab) as a second-line treatment for people with hepatocellular carcinoma (HCC), also known as liver cancer. While the REACH trial's primary endpoint of overall survival favored the CYRAMZA arm, it was not statistically significant.

19 Jun 2015

Study opens new area of discovery for different aspects of cell biology, biomedical research

Every cell in the body uses phosphorylation, the process of adding a chemical tag to control a protein's function and fate, such as when it moves from one part of a cell to another or binds to other proteins.

19 Jun 2015

International researchers identify previously unknown genetic immunodeficiency

An analysis of five families has revealed a previously unknown genetic immunodeficiency, says an international team led by researchers from Boston Children's Hospital. The condition, linked to mutations in a gene called DOCK2, deactivates many features of the immune system and leaves affected children open to a unique pattern of aggressive, potentially fatal infections early in life.

19 Jun 2015

Improved clinical management results in higher quality of life for patients with neurofibromatosis

A genetic disorder called neurofibromatosis (NF) causes benign tumors to grow on the brain, spinal cord, and other parts of the nervous system.

18 Jun 2015

New article shows taxonomic classification of rare genetic bone disorders based on metabolic phenotypes

An International Osteoporosis Foundation Working Group on Skeletal Rare Diseases has published a new classification of rare genetic metabolic bone disorders (RGMBDs) according to their metabolic pathogenesis.

18 Jun 2015

PNP Therapeutics granted FDA orphan drug designation for Gedeptin

PNP Therapeutics Inc. announced today the Food and Drug Administration has granted orphan drug status to Gedeptin, the Company's lead product candidate (adenoviral vector expressing E. coli purine nucleoside phosphorylase gene) for the intratumoral treatment of anatomically accessible oral and pharyngeal cancers, including cancers of the lip, tongue, gum, floor of mouth, salivary gland and other oral cavities.

16 Jun 2015

Pulmatrix completes previously announced merger and closes $10 million in private placement

Pulmatrix, Inc., previously known as Ruthigen, Inc., today announced the completion of its previously announced merger, effective June 15, 2015, and the closing of a private placement generating aggregate gross proceeds of $10.0 million. Participants in the private placement included pre-merger investors in Pulmatrix such as funds affiliated with 5AM Ventures, ARCH Venture Partners and Polaris Partners, as well as funds affiliated with Altitude Life Science Ventures.

16 Jun 2015

Rare Disease News and Research

Novogen's Anisina granted FDA Orphan Drug Designation for neuroblastoma

Gene therapy used for sight restoration also strengthens visual pathways in the brain

New report on different treatment strategies for haemophilia published

UM researchers discover new gene behind neurodegenerative conditions

Canadian researchers launch world's first viral therapy clinical trial to attack and kill cancer cells

New research identifies potential treatment for primary effusion lymphoma

IRB Barcelona scientists provide molecular details about Seckel Syndrome

Researchers discover link between acute liver failure and specific gene mutations in young children

Researchers establish link between NBAS gene and acute liver failure

R. Rodney Howell receives ASHG’s annual Advocacy Award

SNSF’s special programme aims to support clinical studies initiated by researchers

Genetic Alliance, Claritas Genomics team up to help patients and families participate in rare disease research

Pediatric study looks at evidence-based predictors of biphasic allergic reactions

The Lancet Oncology publishes results of CYRAMZA (ramucirumab) Phase III trial for HCC treatment

Study opens new area of discovery for different aspects of cell biology, biomedical research

International researchers identify previously unknown genetic immunodeficiency

Improved clinical management results in higher quality of life for patients with neurofibromatosis

New article shows taxonomic classification of rare genetic bone disorders based on metabolic phenotypes

PNP Therapeutics granted FDA orphan drug designation for Gedeptin

Pulmatrix completes previously announced merger and closes $10 million in private placement

Changing the landscape of R&D to build clinical success from the ground up

Sensing a Healthier Future

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

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