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Stem cell disease model reveals how tumor suppressor may drive bone cancer

Using induced pluripotent stem cells (iPSCs), a team led by Mount Sinai researchers has gained new insight into genetic changes that may turn a well known anti-cancer signaling gene into a driver of risk for bone cancers, where the survival rate has not improved in 40 years despite treatment advances.

10 Apr 2015

Prolong Pharmaceuticals' SANGUINATE granted FDA Orphan Drug Designation for SCD treatment

Prolong Pharmaceuticals, LLC, a biopharmaceutical company dedicated to developing products for the treatment of anemias, cancers and their debilitating comorbidities, announced today that the U.S. Food and Drug Administration has granted Orphan Drug Designation for its flagship product SANGUINATE for the treatment of Sickle Cell Disease (SCD).

8 Apr 2015

Study identifies genetic variants linked to Hirschsprung’s disease

Genetic studies in humans, zebrafish and mice have revealed how two different types of genetic variations team up to cause a rare condition called Hirschsprung’s disease. The findings add to an increasingly clear picture of how flaws in early nerve development lead to poor colon function, which must often be surgically corrected.

8 Apr 2015

CentoMD: World's largest genetic mutation database for rare diseases

CENTOGENE AG announces the launch of the world's largest genetic mutation database for rare diseases, CentoMD. CentoMD is a comprehensive and unique repository of genetic variants, including a huge number of unpublished pathogenic variants gathered from patients worldwide.

3 Apr 2015

Shire announces availability of Natpara (parathyroid hormone) for injection in U.S.

Shire plc today announced that Natpara (parathyroid hormone) for injection is now available in the United States. The U.S. Food and Drug Administration approved Natpara as an adjunct to calcium and vitamin D to control hypocalcemia in patients with hypoparathyroidism on January 23, 2015.

1 Apr 2015

Patient with severe Alzheimer's shows promising benefits during treatment with Bryostatin drug

Researchers at the Blanchette Rockefeller Neurosciences Institute and the Marshall University Joan C. Edwards School of Medicine announced their findings from a new study entitled, "PSEN1 Variant in a Family with Atypical AD." An Alzheimer patient with very severe disease, genetically confirmed to have a known variant of PSEN1, showed promising benefits during treatment with the drug Bryostatin 1.

30 Mar 2015

CNIO researchers describe presence of MDH2 gene mutations in hereditary neuroendocrine tumors

Researchers in the Hereditary Endocrine Cancer Group of the Spanish National Cancer Research Centre -- led by Alberto Cascón and Mercedes Robledo -- have described the presence of mutations in the MDH2 gene, in a family with very rare neuroendocrine tumours associated with a high hereditary component: pheochromocytomas and paragangliomas that affect the suprarenal and parathyroid glands (groups of chromaffin cells in the central nervous system), respectively.

30 Mar 2015

Medunik announces availability of PHEBURANE drug in Canada for chronic management of UCD

Medunik Canada, a Canadian pharmaceutical company specialized in rare diseases, is pleased to announce that PHEBURANE (a tasteless oral formulation of sodium phenylbutyrate), is now available for distribution in Canada. PHEBURANE is the first drug to be approved in Canada for the chronic management of urea cycle disorders (UCD) after receiving market authorisation on January 27th, 2015.

30 Mar 2015

WHO report: Access to new medicines requires transparency, collaboration

As the number of new medicines introduced in Europe rises, governments are finding it increasingly difficult to afford them, according to a comprehensive study released today by the WHO Regional Office for Europe.

27 Mar 2015

Iceland paint a genomic picture for an entire nation

Researchers in Iceland have published the largest ever studies of whole-genome data and effectively deduced the genetic code of “an entire nation.”

26 Mar 2015

First randomized, controlled trial of pharmacotherapy in PCD patients now in place

Primary ciliary dyskinesia (PCD) is a rare, genetic respiratory tract disorder leading to progressive pulmonary dysfunction. It exhibits many problems typical for orphan diseases: delayed diagnosis, limited evidence-based knowledge etc. The European Union is funding BESTCILIA (Better Experimental Screening and Treatment for Primary Ciliary Dyskinesia) to introduce uniform guidelines for PCD treatment and diagnosis across Europe.

25 Mar 2015

Confluence pharmaceuticals signs co-development and marketing agreement with AOP orphan for fragile X syndrome drug

Confluence is a biopharmaceutical company focused on developing therapeutic treatments for Fragile X Syndrome and Autism Spectrum Disorders. AOP is an Austrian based company specializing in the development and marketing of medicines for rare and complex diseases.

24 Mar 2015

Everyday Health announces acquisition of Cambridge BioMarketing Group

Everyday Health, Inc., a leading provider of digital health and wellness solutions, today acquired Cambridge BioMarketing Group, LLC, the leader in strategic launch and marketing solutions for orphan and rare disease products.

23 Mar 2015

Stempeutics' Stempeucel drug receives ATMP classification from EMA for treatment of TAO

Stempeutics Research, a group company of Manipal Education and Medical Group and a Joint Venture with Cipla Group, announced today that the European Medicines Agency has granted Advanced Therapy Medicinal Product classification for its novel stem cell drug 'Stempeucel' which will be used for the treatment of Thromboangiitis Obliterans (TAO).

23 Mar 2015

Selten Pharma's SPI-026 granted FDA Orphan Drug Designation for treatment of PAH

Selten Pharma, Inc., a privatively held biopharmaceutical company focused on the development and commercialization of therapies for the treatment of rare diseases, announced today that its lead compound tacrolimus (SPI-026) has been granted Orphan Drug Designation by the U.S. Food & Drug Administration for the treatment of pulmonary arterial hypertension (PAH).

18 Mar 2015

FDA approves CHOLBAM (cholic acid) for treatment of bile acid synthesis disorders

Asklepion Pharmaceuticals, LLC. today announced that the U.S. Food and Drug Administration (FDA) approved CHOLBAM (cholic acid) as a once-daily treatment for cholic acid deficiency in bile acid synthesis disorders due to single enzyme defects.

18 Mar 2015

Researchers discover gene associated with congenital anomaly of urinary tract

An interdisciplinary team of researchers under the direction of the University of Bonn Hospital have discovered a gene which is associated with a rare congenital anomaly of the urinary tract called classic bladder exstrophy.

13 Mar 2015

Young immigrants to Canada at greater risk of developing IBD

The younger a person is when they immigrate to Canada, the higher their risk of developing inflammatory bowel disease (IBD), and its major subtypes Crohn's disease and ulcerative colitis, according to a study by researchers at the University of Ottawa, the Institute for Clinical Evaluative Sciences and the Children's Hospital of Eastern Ontario.

11 Mar 2015

TWi Biotechnology obtains Rare Disease Drug designation in Taiwan for use of AC-203 to treat EBS

TWi Pharmaceuticals, Inc. today announced that its fully owned subsidiary, TWi Biotechnology, Inc., has received the designation of Rare Disease Drug by Taiwan FDA for use of AC-203 to treat Epidermolysis Bullosa Simplex (EBS), and is eligible for applying for coverage under National Health Insurance Administration.

10 Mar 2015

Mallinckrodt enters into definitive agreement to acquire Ikaria

Mallinckrodt plc, a leading global specialty biopharmaceutical company, and Ikaria, Inc. a privately-held critical care company, announced today that they have entered into a definitive agreement under which a subsidiary of Mallinckrodt will acquire Ikaria, Inc. from a Madison Dearborn-led investor group in a transaction valued at approximately $2.3 billion.

5 Mar 2015

Rare Disease News and Research

Stem cell disease model reveals how tumor suppressor may drive bone cancer

Prolong Pharmaceuticals' SANGUINATE granted FDA Orphan Drug Designation for SCD treatment

Study identifies genetic variants linked to Hirschsprung’s disease

CentoMD: World's largest genetic mutation database for rare diseases

Shire announces availability of Natpara (parathyroid hormone) for injection in U.S.

Patient with severe Alzheimer's shows promising benefits during treatment with Bryostatin drug

CNIO researchers describe presence of MDH2 gene mutations in hereditary neuroendocrine tumors

Medunik announces availability of PHEBURANE drug in Canada for chronic management of UCD

WHO report: Access to new medicines requires transparency, collaboration

Iceland paint a genomic picture for an entire nation

First randomized, controlled trial of pharmacotherapy in PCD patients now in place

Confluence pharmaceuticals signs co-development and marketing agreement with AOP orphan for fragile X syndrome drug

Everyday Health announces acquisition of Cambridge BioMarketing Group

Stempeutics' Stempeucel drug receives ATMP classification from EMA for treatment of TAO

Selten Pharma's SPI-026 granted FDA Orphan Drug Designation for treatment of PAH

FDA approves CHOLBAM (cholic acid) for treatment of bile acid synthesis disorders

Researchers discover gene associated with congenital anomaly of urinary tract

Young immigrants to Canada at greater risk of developing IBD

TWi Biotechnology obtains Rare Disease Drug designation in Taiwan for use of AC-203 to treat EBS

Mallinckrodt enters into definitive agreement to acquire Ikaria

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