Rare Diseases

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• A cautionary tale on genome-sequencing diagnostics for rare diseases

  Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars. Properly diagnosing a child with CDG and pinpointing the exact sugar gene that's mutated can b more

• European Medicines Agency publishes 2012 annual report

  The European Medicines Agency has published its 2012 annual report. The report highlights the main trends recently observed in the Agency’s activities. For the past few years, the Agency has received a stable number of initial marketing authorisation applications (MAAs) for human medicines, with a t more

• Prosensa receives rare disease 'Company Award' from EURORDIS

  Prosensa received the ‘Company Award’ at the EURORDIS Black Pearl Gala Dinner in Brussels. The Black Pearl Gala Dinner is hosted annually by EURORDIS, a non-governmental alliance of patients and patient organizations active in the field of rare diseases, to celebrate Rare Disease Day. Awards recogni more

White papers Rare Diseases

• Orphan Drugs – An Alternative to the declining Blockbuster Model?
  

  Up until the new millennium, the pharmaceutical industry grew stronger by 11%. However, the blockbuster model is increasingly at risk and the declining growth rates in the industry require a search for new strategies. In this context, orphan drugs are becoming increasingly important more

Publications Rare Diseases

• Patients with Nipple-Areola Paget’s Disease and Underlying Invasive Breast Carcinoma Have Very Poor Survival: A Matched Cohort Study

  by Hong Ling, Xin Hu, Xiao-Li Xu, Zhe-Bin Liu, Zhi-Min Shao Paget’s disease (PD) of the breast is a rare disease. The survival rate of PD was reported to depend on the characteristics of the underlying carcinoma. This study aimed to investigate the characteristics and survival rate of PD more

• Adjusted Sequence Kernel Association Test for Rare Variants Controlling for Cryptic and Family Relatedness

  ABSTRACT Recent progress in sequencing technologies makes it possible to identify rare and unique variants that may be associated with complex traits. However, the results of such efforts depend crucially on the use of efficient statistical methods and study designs. Although family‐based design more

• Data barriers limit genetic diagnosis

  Data barriers limit genetic diagnosis Nature 494, 7436 (2013). http://www.nature.com/doifinder/10.1038/494156a Author: Erika Check Hayden Tools for data-sharing promise to improve chances of connecting mutations with symptoms of rare more

Market studies Rare Diseases

• Afinitor - A Two-Pronged Attack Against Tuberous Sclerosis Complex

  Introduction GlobalData’s new alert, "Afinitor - A Two-Pronged Attack Against Tuberous Sclerosis Complex”, takes a look at the implications of the FDA’s recent approval of the drug for the treatment of angiomyolipomas, benign kidney tumors that affect a majority of people with this rare disease. more

• United Kingdom Pharmaceuticals and Healthcare Report Q4 2012

  BMI View: We retain our broadly pessimistic outlook for the UK’s pharmaceutical market over the five years to 2016, although the emphasis on cost containment will serve to boost the performance of the generic drug sector. A difficult economic situation will also prioritise economically priced items more

• Israel Pharmaceuticals and Healthcare Report Q2 2012

  BMI View: Following widespread protests in mid-2011, the Israeli government has been under significant pressure to spend more on housing, healthcare and education. While it was not about to tear down the country's privatised healthcare system, it has been able to support it by subsidising sick funds more

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