Rare Diseases e-Resource Guide eReport

Page Count:
15
Editor:
Melinda (Mindy) Throm Burnworth
DOI:
https://doi.org/10.37573/9781585285082
Online ISBN:
9781585285082
Print ISBN:
9781585285082
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Page Count: 15 pages

This eReport defines rare (orphan) diseases and advances pharmacy knowledge about the diseases and related pharmacotherapy (orphan drugs). It also evaluates rare disease resources such as the National Organization for Rare Disorders (NORD), Genetic and Rare Diseases Information Center (GARD), Canadian Organization for Rare Disorders (CORD), Rare Diseases Europe (EURORDIS), and Orpha.net and provides a portal to the best resources available (using hyperlinks directly from the eReport).

As a gateway to these resources, most of which are not familiar to the average pharmacist, the eReport will be a valuable resource for any department of pharmacy to keep on hand.

NOTE: The link below allows you to download the ePub file. If you want the PDF files, click on Table of Contents, browse the chapters by clicking on the drop-down symbol ^, select a chapter, and you will see the DOWNLOAD PDF orange button in the upper right. Most ePub files can be opened in eBook readers, like the B&N Nook and Kobo eReader. These files have to be converted to .Mobi format before they are usable on the Amazon Kindle device or app. For your computer, the easiest way to open an ePub file is to double-click on it and let your PC decide which default application should open the file. If no program opens it, then you probably do not have an application installed that can view ePub files. ePub files can also be opened on a computer with various free programs including Adobe Digital Editions. If you have access to this title you can download the ePub here:

    • Rare Diseases e-Resource Guide eReport (EPUB 785 KB)
    • Rare Diseases e-Resource Guide eReport (PDF 644 KB)

A rare (or orphan) disease is defined as any disorder affecting less than 200,000 persons. While each individual disease may be classified as “rare,” when considered as a whole these diseases affect over 30 million Americans. The likelihood of a pharmacist being called upon to treat a patient with a rare disease is therefore quite high, but unfortunately, general knowledge and awareness of rare diseases is scarce. Healthcare providers, patients, and families often have difficulty locating reliable and up-to-date information about rare (orphan) diseases and orphan drugs.

Only limited information regarding these interesting albeit rare disorders is found in common pharmacy references. Whether or not the pharmacist has encountered a rare disease or orphan drug, patients expect a high degree of expertise and empathy. Thus, it is important that pharmacists have a basic understanding of rare diseases and the resources available to supplement care of a patient with a rare disorder.

This eReport will define rare (orphan) diseases and advance pharmacy knowledge about the diseases and related pharmacotherapy (orphan drugs). It will also evaluate rare disease resources such as the National Organization for Rare Disorders (NORD), Genetic and Rare Diseases Information Center (GARD), Canadian Organization for Rare Disorders (CORD), Rare Diseases Europe (EURORDIS), and Orpha.net and provide a portal to the best resources available (using hyperlinks directly from the eReport).

As a gateway to these resources, most of which are not familiar to the average pharmacist, the eReport will be a valuable resource for any department of pharmacy to keep on hand.

Melinda (Mindy) Throm Burnworth, PharmD, BCPS, FAzPA

Melinda Burnworth is a Professor of Pharmacy Practice at Midwestern University, College of Pharmacy─Glendale. Dr. Burnworth graduated from the University of Missouri Kansas City School of Pharmacy in 2001. She then completed ASHP-accredited residencies in pharmacy practice (PGY1) and adult internal medicine (PGY2) at Grady Health System in Atlanta, GA. 

Dr. Burnworth has held several leadership roles with the Arizona Pharmacy Association (AzPA) including Chair of the Health-System Academy from 2007-2009. She remains active with the AzPA Health-System Academy and Legislative Committee with annual contributions to the Political Action Committee. She has presented several advocacy educational programs at the state level. Burnworth was honored with AzPA’s Service to Pharmacy Award twice, Pharmacist of the Year, Appreciation to Pharmacy Award, and Hall of Fame Award. She is recognized as a Fellow of AzPA and ASHP. In 2008 and 2009, she received ASHP’s State Affiliate Leadership Appreciation Award.