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

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. [More]
Penn State researchers link mutation in common virus to fatal brain disease

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. [More]
Research shows close similarities of canine models of human rare disorders

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. [More]
Birmingham Women's Hospital leads the way in genomic diagnosis

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

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. [More]
Shire launches awareness campaign to improve lives of people with rare MPS

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. [More]
Finding treatments for rare diseases: an interview with Dr Richard Thompson

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. [More]
Radiation therapy better than chemotherapy for stage IIa testicular cancer patients

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). [More]
Rare germ cell tumor creates unique bond between two young women

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. [More]
Study shows pulmonary alveolar proteinosis can be cured by single transfer of monocytes

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. [More]
New therapy strategy for liver disease shows initial measureable success with norUrso

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). [More]
Complete genetic map of scleroderma opens door for diagnosis and targeted treatment

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. [More]
UT Southwestern scientists discover mutation that causes X-linked reticulate pigmentary disorder

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. [More]
Anthim (obiltoxaximab) injection approved for treatment of inhalational anthrax

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. [More]

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. [More]
Systemic sclerosis: an interview with Dr Kristin Highland

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 [More]
Study identifies gene linked to rare, complex diseases

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. [More]
New international survey provides insights into emotional truths of living with IPF

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. [More]
Rare Disease Day 2016: Boehringer Ingelheim launches new initiatives to raise awareness of IPF

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. [More]
FDA announces availability of $2 million for rare disease research

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. [More]
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