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FDA approves Defitelio to treat hepatic veno-occlusive disease in adults, children

The U.S. Food and Drug Administration today approved Defitelio (defibrotide sodium) to treat adults and children who develop hepatic veno-occlusive disease (VOD) with additional kidney or lung abnormalities after they receive a stem cell transplant from blood or bone marrow called hematopoietic stem cell transplantation (HSCT).

31 Mar 2016

High out-of-pocket costs linked to lower use of specialty drugs

"Specialty drugs" have become important treatment options for many serious and chronic diseases, and in some conditions like cancer they represent the only chance for long-term survival.

29 Mar 2016

UT Southwestern scientists discover mutation that causes X-linked reticulate pigmentary disorder

UT Southwestern Medical Center researchers have discovered a mutation that causes a rare systemic disorder known as X-linked reticulate pigmentary disorder (XLPDR) and, significantly, the unexpected cellular mechanism by which the mutation causes the disease.

29 Mar 2016

Anthim (obiltoxaximab) injection approved for treatment of inhalational anthrax

On Friday, March 18, the U.S. Food and Drug Administration approved Anthim (obiltoxaximab) injection to treat inhalational anthrax in combination with appropriate antibacterial drugs. Anthim is also approved to prevent inhalational anthrax when alternative therapies are not available or not appropriate.

21 Mar 2016

New molecular probe can detect different amyloid deposits in human tissues

A team of scientists at Sweden's Linköping University have developed a molecular probe that can detect an array of different amyloid deposits in several human tissues. This new probe is extremely sensitive and was used at very low concentrations to correctly identify every positive amyloidosis sample when compared to the traditional clinical tests.

21 Mar 2016

FDA approves Xalkori (crizotinib) to treat patients with ROS-1 positive NSCLC

The U.S. Food and Drug Administration today approved Xalkori (crizotinib) to treat people with advanced (metastatic) non-small cell lung cancer (NSCLC) whose tumors have an ROS-1 gene alteration. Xalkori is the first and only FDA approved treatment for patients with ROS-1 positive NSCLC.

13 Mar 2016

Systemic sclerosis: an interview with Dr Kristin Highland

Systemic sclerosis, also known as scleroderma, is a rare disease characterized by the thickening and scarring of connective tissue of multiple organs in the body

7 Mar 2016

New MyGene2 web tool may help find genes influencing Mendelian disorders

A new web tool, MyGene2, will enable patients and their families to join clinicians and scientists in the search for genes underlying rare disorders. The sharing of health information also will improve knowledge about how gene variants influence symptoms and other clinical features of Mendelian disorders.

3 Mar 2016

Study identifies gene linked to rare, complex diseases

IRB Barcelona identifies GEMC1 as a master gene for the generation of multiciliated cells—cells with fine filaments that move fluids and substances—which are found exclusively in the brain, respiratory tract, and reproductive system.Defects in multiciliated cells lead to ciliopathies—rare and complex diseases that are poorly understood and for which not all causative genes have been identified.

3 Mar 2016

New international survey provides insights into emotional truths of living with IPF

An international survey of over 500 people living with idiopathic pulmonary fibrosis (IPF) in more than 20 countries worldwide reveals the real-life emotions faced by those with the devastating disease.

1 Mar 2016

Rare Disease Day 2016: Boehringer Ingelheim launches new initiatives to raise awareness of IPF

Boehringer Ingelheim, working with pharmaphorum media, has brought together patients, patient groups and globally renowned clinicians to launch a report into IPF entitled Inspiration - a new initiative dedicated to raising awareness of IPF,1 a rare disease that is relatively unheard of, frequently misdiagnosed and little understood.

1 Mar 2016

FDA announces availability of $2 million for rare disease research

The U.S. Food and Drug Administration today announced the availability of $2 million in research grants to fund natural history studies in rare diseases. The aim is to collect data on how specific rare diseases progress in individuals over time so that knowledge can inform and support product development and approval. This will be the first time the FDA will provide funding through its Orphan Products Grants to conduct these types of studies for rare diseases.

1 Mar 2016

Rare disease day focuses on new approach to finding treatment

2,200 babies will be born in the UK on 29th February, of which 30 will die of a rare disease before they are five years old.

29 Feb 2016

Novartis announces FDA approval of Afinitor for progressive, nonfunctional neuroendocrine tumors of GI

Novartis today announced that the United States Food and Drug Administration approved Afinitor (everolimus) tablets for the treatment of adult patients with progressive, well-differentiated, nonfunctional neuroendocrine tumors (NET) of gastrointestinal (GI) or lung origin that are unresectable, locally advanced or metastatic.

26 Feb 2016

New Notre Dame research may lead to a therapy for Niemann-Pick Type C disease

Niemann-Pick Type C (NPC) disease is a rare, fatal neurodegenerative disease for which there is currently no cure. NPC primarily strikes children before and during adolescence and affects one in every 150,000 children. The disease causes cholesterol and other lipids to build up in the body's cells, which results in symptoms such as delayed motor development, deterioration of memory and balance, and seizures.

26 Feb 2016

Clincierge wins 2016 Clinical Informatics News Best Practices award

Clincierge, a provider of specialized services that increase the patient-centricity of clinical drug development and help remove burdens associated with trial participation, today announced that they have been named a winner of the 2016 Clinical Informatics News Best Practices awards.

25 Feb 2016

Research: Impaired immune response significantly involved in rare autoimmune diseases

In the context of the multicentre EU project "INTRICATE" under the management of Renate Kain of the Clinical Institute for Pathology of MedUni Vienna, the effects of infections on the generation of rare autoimmune diseases such as granulomatous polyangiitis (GPA), a systemic disease of the vascular system, are examined.

25 Feb 2016

Influenza virus can able to circumvent the body's immune system

Influenza is able to mask itself, so that the virus is not initially detected by our immune system. This is the result of new research from Aarhus University. The researchers behind the study hope that the discovery can be used to develop better treatment against influenza and chronic inflammation conditions such as rheumatoid arthritis.

24 Feb 2016

Bad technology choices contributing to increased drug development costs, say experts

The search for new medicines is becoming unsustainably expensive despite huge technological advances because researchers are using the wrong methods, experts say.

15 Feb 2016

Molecular imaging and radiochemistry: the importance of instrumentation. An interview with Professor Björn Wängler

Interview conducted with Professor Björn Wängler, Professor for Molecular Imaging and Radiochemistry from Heidelberg University.

From Bruker BioSpin Group 4 Feb 2016

Rare Disease News and Research

FDA approves Defitelio to treat hepatic veno-occlusive disease in adults, children

High out-of-pocket costs linked to lower use of specialty drugs

UT Southwestern scientists discover mutation that causes X-linked reticulate pigmentary disorder

Anthim (obiltoxaximab) injection approved for treatment of inhalational anthrax

New molecular probe can detect different amyloid deposits in human tissues

FDA approves Xalkori (crizotinib) to treat patients with ROS-1 positive NSCLC

Systemic sclerosis: an interview with Dr Kristin Highland

New MyGene2 web tool may help find genes influencing Mendelian disorders

Study identifies gene linked to rare, complex diseases

New international survey provides insights into emotional truths of living with IPF

Rare Disease Day 2016: Boehringer Ingelheim launches new initiatives to raise awareness of IPF

FDA announces availability of $2 million for rare disease research

Rare disease day focuses on new approach to finding treatment

Novartis announces FDA approval of Afinitor for progressive, nonfunctional neuroendocrine tumors of GI

New Notre Dame research may lead to a therapy for Niemann-Pick Type C disease

Clincierge wins 2016 Clinical Informatics News Best Practices award

Research: Impaired immune response significantly involved in rare autoimmune diseases

Influenza virus can able to circumvent the body's immune system

Bad technology choices contributing to increased drug development costs, say experts

Molecular imaging and radiochemistry: the importance of instrumentation. An interview with Professor Björn Wängler

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

Expanding access to NMR with the Fourier 80 Duo

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