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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]
LouLou Foundation, ODC announce 11 new grants for research on CDKL5 deficiency

LouLou Foundation, ODC announce 11 new grants for research on CDKL5 deficiency

LouLou Foundation and the Orphan Disease Center (ODC) in the Perelman School of Medicine at the University of Pennsylvania are pleased to announce the award of 11 new research grants into CDKL5 deficiency - a rare X-chromosome-linked genetic disorder that causes severe neuro-developmental impairment and early-onset, difficult-to-control seizures. [More]
Advances in inhaled drug delivery: an interview with Dr Robert Clarke

Advances in inhaled drug delivery: an interview with Dr Robert Clarke

Delivering drugs to the lungs via inhalation has a number of potential advantages over traditional routes of administration like pills or injections. For treating pulmonary diseases, the obvious logic we are applying is topical delivery to the airways via inhalation. [More]
Using NMR to investigate intrinsically disordered proteins: an interview with Dr Isabella Felli

Using NMR to investigate intrinsically disordered proteins: an interview with Dr Isabella Felli

“IDPs” is now a widely used acronym that stands for “intrinsically disordered proteins.” It is the term generally used by the scientific community to refer to a wide variety of proteins that do not have a stable 3D structure and are instead characterized by a high extent of local mobility, disorder and many conformers that are accessible at room temperature. [More]
New collaborative research program connects canine and human cancers

New collaborative research program connects canine and human cancers

A new collaborative research program pairs oncologists who treat childhood and adult sarcomas with veterinarians who manage the same cancers in canine patients. [More]
PharmaMar announces initiation of pivotal plitidepsin clinical trial in patients with T-cell lymphomas

PharmaMar announces initiation of pivotal plitidepsin clinical trial in patients with T-cell lymphomas

PharmaMar today announced the start of a multicenter, prospective, pivotal study to analyze the efficacy of the antitumoral compound of marine origin, plitidepsin in patients with relapsed and refractory angioimmunoblastic T-cell lymphoma. [More]
Lund researchers discover two new types of childhood leukaemia

Lund researchers discover two new types of childhood leukaemia

Through a detailed study of leukaemia cells from more than 200 children, a research group at Lund University in Sweden has discovered two new types of childhood leukaemia. [More]
Existing immunotherapy drug pembrolizumab shows promise for specific sarcoma subtypes

Existing immunotherapy drug pembrolizumab shows promise for specific sarcoma subtypes

An existing cancer immunotherapy drug reduces tumor size in some types of rare connective tissue cancers, called sarcomas, report researchers at the University of Pittsburgh Cancer Institute. [More]

Nonprofits partner to raise awareness of scleroderma

If you've ever silently questioned someone wearing mittens on a warm spring day, the answer may be scleroderma. Or wondered why a woman, who otherwise appeared middle-aged, wore a face as wrinkle-free as her teenage daughter. The answer may be scleroderma. [More]
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