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Johns Hopkins researchers identify new biological target for treating spinal muscular atrophy

Johns Hopkins researchers identify new biological target for treating spinal muscular atrophy

Johns Hopkins researchers along with academic and drug industry investigators say they have identified a new biological target for treating spinal muscular atrophy. [More]
UNC Catalyst aims to provide knowledge and research tools to tackle rare diseases

UNC Catalyst aims to provide knowledge and research tools to tackle rare diseases

Freely giving researchers the tools and knowledge to tackle rare and orphaned diseases is the mission of UNC Catalyst, a new endeavor the University of North Carolina at Chapel Hill has launched with a $2 million grant from the Eshelman Institute for Innovation. [More]
Scientists discover OGDHL and NRD1 genes linked to progressive loss of neurological function

Scientists discover OGDHL and NRD1 genes linked to progressive loss of neurological function

An international team of scientists has discovered that the gene, OGDHL, a key protein required for normal function of the mitochondria -- the energy-producing factory of the cell -- and its chaperone, nardilysin (NRD1) are linked to progressive loss of neurological function in humans. [More]
IPF diagnosis: how do patients feel about the discussion with their physician?

IPF diagnosis: how do patients feel about the discussion with their physician?

IPF (Idiopathic Pulmonary Fibrosis) is a difficult disease to diagnose. Many patients will experience many visits to the doctor and some may even be told they have a different respiratory condition before they finally get the correct diagnosis that... [More]
Experts discuss ways to integrate whole genome analysis into clinical practice at Congenica webinar

Experts discuss ways to integrate whole genome analysis into clinical practice at Congenica webinar

Whole genome analysis – where all of a patient’s genes are screened for potential disease causing variants – offers the potential for a rapid, responsive NHS testing service. [More]
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, 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]
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