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Scientists discover molecular link between rare childhood genetic disease and major cancer gene

Scientists discover molecular link between rare childhood genetic disease and major cancer gene

A team of researchers led by a University of Rhode Island scientist has discovered an important molecular link between a rare childhood genetic disease, Fanconi anemia, and a major cancer gene called PTEN. [More]
Researchers identify heart defects in progeria patients that may raise risk of arrhythmias, premature death

Researchers identify heart defects in progeria patients that may raise risk of arrhythmias, premature death

Researchers at the Centro Nacional de Investigaciones Cardiovasculares Carlos III, working in collaboration with colleagues at other centers in Spain and abroad, have identified defects in the hearts of progeria patients that appear to be related to an elevated risk of arrhythmias and premature death. [More]
IU scientists find evidence for link between prostate cancer and Ewing's sarcoma

IU scientists find evidence for link between prostate cancer and Ewing's sarcoma

Medical researchers at Indiana University Bloomington have found evidence for a link between prostate cancer, which affects millions of men age 50 and older, and Ewing's sarcoma, a rare form of cancer that affects children and young adults. [More]
Scientists identify genetic cause and biological mechanisms linked to new human immunodeficiency

Scientists identify genetic cause and biological mechanisms linked to new human immunodeficiency

A multi-institutional, international team of scientists has discovered the genetic cause and biological mechanisms linked to a new human immunodeficiency. The study, which is published in Nature Immunology, also identifies a potential treatment. [More]
Congenica reports high diagnostic yields by Sapientia platform in UK 100,000 Genomes Project

Congenica reports high diagnostic yields by Sapientia platform in UK 100,000 Genomes Project

Congenica, a clinical interpretation partner for the UK 100,000 Genomes Project, has announced that its whole genome analysis platform Sapientia™ is detecting clinically relevant variants in over 35% of diagnostics reports returned to the NHS Genomic Medicine Centres (GMCs) for the Pilot and Main Phase studies. [More]
Computer-adaptive tests to measure health-related quality of life in Huntington's disease patients

Computer-adaptive tests to measure health-related quality of life in Huntington's disease patients

Huntington's disease is an inherited disease that leads to problems with movement, thinking and mood which can negatively affect an individual's quality of life. [More]
Common beta-blocker prescribed for heart conditions has anti-cancer properties, study shows

Common beta-blocker prescribed for heart conditions has anti-cancer properties, study shows

Propranolol, a beta-blocker commonly prescribed to treat irregular heart rates and other conditions, has significant anti-cancer properties, say researchers in a new clinical study published in ecancermedicalscience. [More]
Professor Illana Gozes from Tel Aviv University receives 2016 RARE Champion of Hope award

Professor Illana Gozes from Tel Aviv University receives 2016 RARE Champion of Hope award

Tel Aviv University's Prof. Illana Gozes was awarded the 2016 RARE Champion of Hope -- Science International Prize by Global Genes, a leading global advocacy non-profit organization for patients and families fighting rare and genetic diseases. [More]
Tools of Undiagnosed Diseases Network help unravel mystery of rare genetic disease

Tools of Undiagnosed Diseases Network help unravel mystery of rare genetic disease

The first patient was a mystery. Arriving at Duke six years ago at the age of three, the youngster had mild developmental delays and physical characteristics that included a large body and large head circumference. [More]
Researchers now developing digital support device to help CF sufferers monitor treatment

Researchers now developing digital support device to help CF sufferers monitor treatment

People with cystic fibrosis (CF) need help to ensure they are getting correct nutrition and the right amount of enzymes. They also need constant reminders. Researchers are now developing a digital support device to promote autonomy, but are finding that this is no easy task. [More]
Novartis gets three FDA approvals for expanded use of biologic drug to treat rare autoinflammatory diseases

Novartis gets three FDA approvals for expanded use of biologic drug to treat rare autoinflammatory diseases

Novartis announced today that the US Food and Drug Administration has granted three simultaneous approvals for the expanded use of Ilaris (canakinumab) to treat three rare and distinct types of Periodic Fever Syndromes. [More]
New survey shows majority of patients happy with how physicians manage discussion on IPF diagnosis

New survey shows majority of patients happy with how physicians manage discussion on IPF diagnosis

A diagnosis of IPF is news that few patients want to hear from their physician, but the reality is that approximately 3 million people worldwide are living with idiopathic pulmonary fibrosis (IPF). [More]
CIRM approves $5.2 million for research on life-long treatment for rare childhood disease

CIRM approves $5.2 million for research on life-long treatment for rare childhood disease

Cystinosis is a rare disease that usually strikes children before they are two years old and can lead to end stage kidney failure before their tenth birthday. [More]
Alexion initiates new global Uncommon Strength campaign to raise awareness of rare diseases

Alexion initiates new global Uncommon Strength campaign to raise awareness of rare diseases

Alexion Pharmaceuticals, Inc. today announced the launch of Uncommon Strength, a global campaign to raise awareness of rare diseases through the celebration of the extraordinary resilience and inner strength of those impacted by these diseases. [More]
New drug holds potential for treating advanced mastocytosis

New drug holds potential for treating advanced mastocytosis

Most people have never heard of mastocytosis. It's a rare, sometimes deadly, immune disorder. Now new research may help those with advanced mastocytosis and possibly many more people, too. [More]
MedUni Vienna scientists aim to identify prognostic markers for cutaneous lymphomas

MedUni Vienna scientists aim to identify prognostic markers for cutaneous lymphomas

Primary cutaneous lymphomas, cancers of the lymphatic system, occur in the skin and originate either from T-lymphocytes (T-cell lymphomas, incidence 75%) or in B-cell lymphocytes (B-cell lymphomas, 25%). [More]
Specialty pharmaceuticals: an interview with David Moran, Clinigen SP

Specialty pharmaceuticals: an interview with David Moran, Clinigen SP

Specialty pharmaceuticals as a category has its origins in the 1970s with complex treatments being developed for disease areas such as cancer, HIV and haemophilia and what characterises a specialty pharmaceutical product is that it will be high touch, high complexity or high cost and is often associated with the treatment of rare or orphan conditions. These products require a considerable amount of expertise, innovation and technology and can be expensive as a result. [More]
QOL Medical to introduce new disease awareness-raising tool at WCPGHAN 2016

QOL Medical to introduce new disease awareness-raising tool at WCPGHAN 2016

QOL Medical, LLC announced today they will introduce a ground breaking hyper-targeted marketing tool at the 5th Annual World Congress of Pediatric Gastroenterology, Hepatology and Nutrition, from October 5th-8th 2016 in Montreal, Canada. [More]
Experts develop new genomic testing method for pulmonary hypertension caused by genetic mutation

Experts develop new genomic testing method for pulmonary hypertension caused by genetic mutation

Pulmonology and genetics experts from two Utah healthcare organizations have collaboratively developed a new diagnostic genomic testing method for a rare form of pulmonary hypertension caused by a genetic mutation they discovered three years ago. [More]
AACC introduces new journal to deliver advancements in translational laboratory medicine research

AACC introduces new journal to deliver advancements in translational laboratory medicine research

AACC, a global scientific and medical professional organization dedicated to better health through laboratory medicine, is pleased to announce the launch of its new journal, The Journal of Applied Laboratory Medicine: An AACC Publication. [More]
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