open access: Future Medicine - Personalized medicine in rare diseases

Personalized medicine in rare diseases

Definition of personalized medicine is not an easy issue [1–3,101]. It is moving from personalized medical practice to the modern concept of personalizing the science of medicine to improve individual healthcare. 

In many aspects personalized medicine refers to the translation of the interaction between the biological individuality of the patient and the environment into clinical medicine and healthcare. By the term personalized medicine we envision a complete integration of clinical (phenotype), genetic, genomic, transcriptomic, proteomic and metabolomic profiles with environmental (including nutritional) information that is provided for a particular person. The major expected consequence is to optimize preventive healthcare strategies and response to drug therapies while people are either healthy or in an early stage of the disease. Personalized medicine tries to move the population-based evidence of medical interventions towards individual evidence of how to treat the specific person based on the biological profile, clinical history and environment. The aim is to offer tailored healthcare to every person. The personalized medicine based on the integration of individual information, from the genome variation, physiology and cellular phenotype to the interaction with the personal environment, may represent a proactive, preventive and prospective model of healthcare [4–6] that is opposite to the more traditional, disease-based, reactive approach to the health status of individuals.

The fundamentals of genomic and personalized medicine and application of new technologies that may define personal biological profiles apply to every type of pathological process, disease or condition, whatever the main organ or tissue is involved in the disorder affecting the person.

Consumer Updates - Helping Rare Disease Patients Find Their Voice

The RARE List™ Feb. 1, 2012 /PRNewswire-USNewswire/

Blogger's Note: the full list of rare disorders is included in the article





7,000 Different Rare Diseases and Disorders Comprise 65 Page RARE List™, 95% of the Medical Conditions Included on RARE List™ Have No FDA Approved Treatments
DANA POINT, Calif., Feb. 1, 2012 /PRNewswire-USNewswire/ -- The R.A.R.E. Project (http://RAREproject.org), a leading patient advocacy organization representing the rare disease community, today issued the RARE List™, a stunning 65 page alphabetical listing of roughly 7,000 known rare diseases and disorders. The rare diseases and disorders that comprise the RARE List™ impact 30 million Americans (or 10% of the U.S. population) and an estimated 350 million people worldwide. The RARE List™ was released by the R.A.R.E. Project as part of month long public awareness campaign leading up to World Rare Disease Day on February 29, 2012.

Ovarian cancer, Ovarian cancer childhood, Ovarian carcinosarcoma, Ovarian epithelial cancer, Ovarian germ cell tumor, Ovarian insufficiency due to FSH resistance, Ovarian insufficiency familial, Ovarian low malignant potential tumor, Ovarian remnant syndrome, Ovarian small cell carcinoma

DIA Patient Organization/ Advocate Track - Drug Information Association - conference notice Rare Diseases/Orphan Products Oct 11-13th Washington, Dc

Patient Organization/ Advocate Track
Patient organizations/patients are invited to attend the US Conference on Rare Diseases and Orphan Products at a reduced registration fee of $400. Please submit a registration form to +1-215-442-6199 or Carrie.Dunn@diahome.org.

The Associated Press: Push to spur more drugs for deadly rare diseases

"There are treatments for just 200 of the roughly 7,000 rare diseases, illnesses that affect fewer than 200,000 people, often far, far fewer. Yet add those diseases together, and more than 20 million Americans have one." "A new International Rare Diseases Research Consortium is pushing for at least 200 more treatments by 2020, in part by pooling the work of far-flung scientists and families. Rather than starting from scratch, the Food and Drug Administration is pointing the way for manufacturers to "repurpose" old drugs for new use against rare diseases, publishing a list of those deemed particularly promising."

The case for a global rare-diseases registry : The Lancet

The case for a global rare-diseases registry

Rare diseases are a clinically heterogeneous group of about 6500 disorders,1 and in fewer than 200 000 individuals in the USA.2 They are commonly diagnosed during childhood, often inherited, and can have deleterious long-term effects. Although any one condition is rare, their cumulative public health burden is substantial, with 6—8% of people having a rare disease at some point during life.3

Because of the rarity, no single institution, and in many cases no single country, has sufficient numbers of patients to do generalisable clinical and translational research. Geographic spread of patients has been a major impediment to recruitment into clinical trials....cont'd

Rare Disease Day 2011 - Find out what is happening in your country

Do We Need a War on Rare Diseases? - Health Blog - WSJ

Perspective Towards a framework for personalized healthcare: lessons learned from the field of rare diseases

Pfizer Establishes Rare Disease Research Unit - Pharmaceutical Business Review