Rare Disease News and Research

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Researchers identify new genetic drivers of adrenal cancer

Cancer researchers in Würzburg, in cooperation with the international Cancer Genome Atlas Research Network, have identified new genetic drivers of adrenal cancer. Würzburg was the center of coordination of the European scientists.

30 May 2016

Use of next-generation gene sequencing in NICUs may improve diagnosis of rare diseases

The use of next-generation gene sequencing in newborns in neonatal intensive care units (NICUs) may improve the diagnosis of rare diseases and deliver results more quickly to anxious families, according to new research in CMAJ (Canadian Medical Association Journal).

30 May 2016

Applying deep neural networks to predict pharmacologic properties of drugs and drug repurposing

Deep learning, frequently referred to as artificial intelligence, a branch of machine learning utilizing multiple layers of neurons to model high-level abstractions in data, has outperformed humans in tasks including image, text and voice recognition, autonomous driving and others, and is now being applied to drug discovery and biomarker development.

28 May 2016

Clinical trials of anti-cancer agent PAC-1 continue to progress with anonymous funding

Clinical trials of the anti-cancer agent PAC-1 are continuing to expand, thanks to a $7 million angel investment from an anonymous contributor who originally invested $4 million to help get the compound this far in the drug-approval pipeline.

25 May 2016

Studies explore possible link between pediatric cancer and light therapy for newborn jaundice

Two new studies raise enough questions about a possible link between childhood cancer and light therapy for newborn jaundice that clinicians should exercise caution in prescribing the treatment for infants whose jaundice is likely to resolve on its own, a pediatric oncologist from Dana-Farber/Boston Children's Cancer and Blood Disorders Center argues in an editorial published today by the journal Pediatrics.

23 May 2016

Penn State researchers link mutation in common virus to fatal brain disease

Why people on immunosuppressant drugs for autoimmune conditions have a higher incidence of an often-fatal brain disease may be linked to a mutation in a common virus, according to researchers at Penn State College of Medicine.

19 May 2016

Research shows close similarities of canine models of human rare disorders

Professor Hannes Lohi's research group at the University of Helsinki has discovered three novel canine genes for Caffey, Raine and van den Ende-Gupta syndromes. Research reveals close similarities of the canine models of human rare disorders and highlights the potential of comparative research approach for the development of rare disease diagnostics and treatments.

18 May 2016

Birmingham Women's Hospital leads the way in genomic diagnosis

Birmingham Women's Hospital (BWH) has adopted a radical new technology to make it easier to identify rare diseases by their genetic causes, leading to a faster and more accurate diagnosis for the patient. The technology being used to do this is called Sapientia™ and it is facilitating the reclassification of disease.

16 May 2016

Boehringer Ingelheim presents new data on OFEV® (nintedanib) in idiopathic pulmonary fibrosis (IPF)

New analyses presented at the American Thoracic Society’s 2016 annual conference (ATS 2016) further add to the efficacy and safety profile of OFEV® (nintedanib) in idiopathic pulmonary fibrosis (IPF).

16 May 2016

New BSR report sets roadmap to enhance care for individuals with rare rheumatic and musculoskeletal conditions

The British Society for Rheumatology has today launched a report setting out a programme of work to enhance care for people with rare rheumatic and musculoskeletal conditions.

11 May 2016

Shire launches awareness campaign to improve lives of people with rare MPS

Shire plc announces a campaign to enable people to connect and share information about MPS (mucopolysaccharide) diseases around the world.

11 May 2016

Sophisticated technology helps model and simulate optimal dose for pediatric ependymoma patients

St. Jude Children's Research Hospital scientists have used sophisticated pharmacologic modeling and simulation to translate preclinical findings into a successful phase I clinical trial of a chemotherapy agent for treatment of ependymoma. The research marked the first time the approach has been used to calculate drug doses for a clinical trial in pediatric brain tumor patients.

10 May 2016

Finding treatments for rare diseases: an interview with Dr Richard Thompson

It is estimated that around 400 rare diseases have licenced treatments, and a large proportion of these are a consequence of orphan drug legislation, which has helped to incentivise the production of drugs for small patient populations.

4 May 2016

$Ibrutinib shows added benefit for refractory mantle cell lymphoma patients$

Ibrutinib shows added benefit for refractory mantle cell lymphoma patients

Ibrutinib is a drug for the treatment of rare diseases. It has been approved for the treatment of adults with chronic lymphocytic leukaemia (CLL) or with relapsed or refractory mantle cell lymphoma (MCL) since 2014, and since 2015 also for the treatment of adults with Waldenström macroglobulinaemia. Regarding the treatment of patients with CLL or MCL, the Federal Joint Committee (G-BA) already conducted a benefit assessment and made a decision in 2015.

3 May 2016

Radiation therapy better than chemotherapy for stage IIa testicular cancer patients

A large study of testicular cancer patients has shown that radiation therapy is a better treatment than chemotherapy for patients with stage IIa disease (where one or more regional lymph nodes contain cancer cells but they are less than 2cms in diameter).

2 May 2016

Rare germ cell tumor creates unique bond between two young women

Morgan Ellison and Madison McDaniel were diagnosed with a rare germ cell tumor of the ovary earlier this year. The two strangers would soon form a unique bond during their treatment in Birmingham, Alabama.

30 Apr 2016

Study shows pulmonary alveolar proteinosis can be cured by single transfer of monocytes

Researchers from VIB-UGent reveal that adult circulating monocytes that get access to the macrophage niche in the liver or the lung can acquire identical tissue-specific macrophage functions and self-maintenance capacities as macrophages of embryonic origin.

20 Apr 2016

New therapy strategy for liver disease shows initial measureable success with norUrso

The new therapy strategy for primary sclerosing cholangitis, a liver disease that at present still cannot be cured with medication, shows initial measureable success with the nor-ursodeoxycholic acid (norUrso).

19 Apr 2016

Complete genetic map of scleroderma opens door for diagnosis and targeted treatment

Scleroderma is an autoimmune disease that affects one out of every 10,000 people in Europe and North America, mostly middle-aged women, and causes death in a high percentage of cases.

11 Apr 2016

Exome sequencing improves speed, accuracy of neurogenetic disorder diagnosis

UCLA researchers have found that a state-of-the-art molecular genetic test greatly improves the speed and accuracy with which they can diagnose neurogenetic disorders in children and adults. The discovery could lead directly to better care for people with rare diseases like spinocerebellar ataxia, leukodsystrophy, spastic paraplegia and many other conditions.

6 Apr 2016