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Docs who treat patients with severe LAM face agonizing treatment decision

​Doctors who treat patients with a severe and progressive respiratory disease called lymphangioleiomyomatosis (LAM) can face an agonizing treatment decision. [More]
Boehringer grants volasertib 'orphan drug designation' for treatment of patients with AML

Boehringer grants volasertib 'orphan drug designation' for treatment of patients with AML

Boehringer Ingelheim announced today that the US Food and Drug Administration (FDA) and the European Commission have granted volasertib* 'orphan drug designation' for the treatment of patients with acute myeloid leukaemia (AML). [More]
Sanofi Korea launches gut health product, Probi Digestis

Sanofi Korea launches gut health product, Probi Digestis

Probi has signed a distribution and supply agreement with Sanofi. Following this the Consumer Healthcare division of Sanofi Korea is making a major launch of Probi´s gut health product, Probi Digestis starting in April 2014. Probi has already delivered products and received substantial orders for the coming quarters. [More]

Researchers discover tumor suppressor gene folliculin essential to normal lung function in BHD patients

Researchers at Penn Medicine have discovered that the tumor suppressor gene folliculin (FLCN) is essential to normal lung function in patients with the rare disease Birt-Hogg-Dube (BHD) syndrome, a genetic disorder that affects the lungs, skin and kidneys. [More]

Researchers discover mechanism that control normal lung function in patients with BHD syndrome

Researchers at Penn Medicine have discovered that the tumor suppressor gene folliculin (FLCN) is essential to normal lung function in patients with the rare disease Birt-Hogg-Dube (BHD) syndrome, a genetic disorder that affects the lungs, skin and kidneys. Folliculin's absence or mutated state has a cascading effect that leads to deteriorated lung integrity and an impairment of lung function, as reported in their findings in the current issue of Cell Reports. [More]

Adolescents in Sweden are at increased risk for type 1 diabetes than previously thought

New research published in Diabetologia (the journal of the European Association for the Study of Diabetes) suggests that Sweden-the country already thought to have the second highest prevalence of type 1 diabetes in the world-could have 2-3 times more adolescents and young adults with type 1 diabetes than previously estimated. [More]

Jain Foundation's dysferlinopathy clinical study exceeds original goal of 150 patients

The Jain Foundation is delighted to announce that 193 patients have been recruited into the Clinical Outcome Study for Dysferlinopathy (COS), exceeding the original goal of 150 patients. [More]
Researchers develop new screening tool to help diagnose obstructive sleep apnea in children

Researchers develop new screening tool to help diagnose obstructive sleep apnea in children

Clinical investigators at the Children's Hospital of Eastern Ontario (CHEO) have developed a new screening tool to help diagnose obstructive sleep apnea in children. Their findings are published in Pediatric Pulmonology. [More]

Machaon Diagnostics' aHUS Genetic Panel confirms atypical Hemolytic Uremic Syndrome in 48 hours

Machaon Diagnostics today announced the availability of its "aHUS Genetic Panel" (patent pending) to genetically confirm atypical Hemolytic Uremic Syndrome (aHUS) with a turnaround time of 48 hours. The 48 hour timeframe is a dramatic advancement over other approaches which offer results in 4-13 weeks. [More]
Research findings help explain rare genetic disorder that causes immunodeficiency syndrome

Research findings help explain rare genetic disorder that causes immunodeficiency syndrome

IRCM researchers led by Javier M. Di Noia, PhD, uncovered a new function of AID, a crucial enzyme for the immune response. The discovery, recently published by the scientific journal Proceedings of the National Academy of Sciences, helps explain a rare genetic disorder that causes an immunodeficiency syndrome. [More]
Dr. Jean-Philippe Chaput receives IJO New Faculty Award for research on obesity

Dr. Jean-Philippe Chaput receives IJO New Faculty Award for research on obesity

At the International Congress on Obesity held in Kuala Lumpur, Malaysia last week, Dr. Jean-Philippe Chaput from the Healthy Active Living and Obesity research group at the Children's Hospital of Eastern Ontario Research Institute was awarded the International Journal of Obesity (IJO) New Faculty Award for Population Science and Public Health Research. [More]
Otsuka obtains regulatory approval in Japan for pharmacological treatment of ADPKD

Otsuka obtains regulatory approval in Japan for pharmacological treatment of ADPKD

Otsuka Pharmaceutical Co., Ltd. today announced it has become the first company in the world to obtain regulatory approval for a pharmacological treatment of autosomal dominant polycystic kidney disease (ADPKD). Samsca (generic name: tolvaptan) has been approved in Japan in 7.5-mg and 15-mg tablet forms for extended use for the additional indication of ADPKD. Also, the new dosage form of 30-mg Samsca tablets has received approval for the indication of ADPKD. [More]
Scientists discover cellular pathway that may prevent onset of Type 2 diabetes

Scientists discover cellular pathway that may prevent onset of Type 2 diabetes

Scientists at the Children's Hospital of Eastern Ontario (CHEO) Research Institute have discovered a cellular pathway that is responsible for keeping blood sugar levels low in obese or pre-diabetic people, and may prevent the onset of Type 2 diabetes. [More]
Researchers identify two novel genes associated with development of rare, aggressive blood cancer

Researchers identify two novel genes associated with development of rare, aggressive blood cancer

R​esearchers have identified two novel cancer genes that are associated with the development of a rare, highly aggressive, cancer of blood vessels. These genes may now act as markers for future treatments and explain why narrowly targeted therapies that are directed at just one target fail. [More]
Patient with autistic behavior experiences improvements in mental health after liver transplant

Patient with autistic behavior experiences improvements in mental health after liver transplant

A patient with a rare metabolic disease that causes liver failure and autistic behavior experienced significant improvements in both her physical and mental health after receiving a liver transplant, according to a new case report published in the American Journal of Transplantation. [More]
Longtime allies team up to create Penn Medicine/CHOP Friedreich's Ataxia Center of Excellence

Longtime allies team up to create Penn Medicine/CHOP Friedreich's Ataxia Center of Excellence

Three longtime allies have joined forces to create the new Penn Medicine/CHOP Friedreich's Ataxia Center of Excellence. [More]

New web portal to speed discovery of genes responsible for rare disorders

A new web portal - called PhenomeCentral - is being launched today to connect clinicians and scientists worldwide in an effort to speed the discovery of genes responsible for rare disorders. [More]
Bayer HealthCare joins NORD to promote awareness of Rare Disease Day

Bayer HealthCare joins NORD to promote awareness of Rare Disease Day

Bayer HealthCare is joining the National Organization for Rare Disorders (NORD) and others in raising awareness of Rare Disease Day, which is being celebrated today around the world. [More]
Global initiatives underscore shire's long-term commitment to rare disease community

Global initiatives underscore shire's long-term commitment to rare disease community

Shire plc (LSE: SHP, NASDAQ: SHPG) today announced its support of Rare Disease Day and invites others to join them in its continued commitment to the rare disease community. [More]

Prothelia and University of Nevada, Reno enter into agreements with Alexion for development of Laminin-111

Prothelia Incorporated (Prothelia) and University of Nevada, Reno announce that they have entered into strategic agreements with Alexion for the development of Laminin-111, a patented experimental protein replacement therapy for merosin-deficient congenital muscular dystrophy (MDC1A), a life-threatening, ultra-rare disease caused by a genetic deficiency of the Laminin-211 protein. [More]