Indepth Guide to Rare Diseases
The NORD Guide to Rare Disorders

Reprinted with permission from Elsevier (The Lancet, 2003, Vol 361, p 1663)
The Lancet Homepage

The National Organization for Rare Diseases. Philadelphia: Lippincott Williams & Wilkins, 2003. Pp 895. ISBN 0 7817 3063 5.

Research of rare disorders has gained in importance in the past few years, since our understanding of genetics has led to a growing awareness that studying rare diseases often contributes to our knowledge of more common ones. Researchers and clinicians who study and treat rare diseases frequently share information, and these exchanges are often facilitated by patients' organisations.

In the USA, this year marks the 20th anniversary of the Orphan Drug Act, legislation that has had a tremendous impact on the development of new therapies for rare disorders. In the decade before this act was adopted, only ten new treatments were brought to market in the USA for rare disorders. In the 20 years since the act, more than 1000 new treatments have been introduced to the research pipeline, and well over 200 have been approved for marketing. Similar legislation has been adopted in Europe and Japan.

It is appropriate that The NORD Guide to Rare Disorders should have been released during this 20th anniversary year. NORD (the National Organisation for Rare Disorders in the USA; see also http://www.rarediseases.org) was established in 1983 by a coalition of leaders from patients' support groups, medical researchers, and clinicians who had come together to mobilise support for the Orphan Drug Act.

The book reads like an international Who's Who in rare diseases. NORD has recruited more than 600 physicians and medical researchers to write entries on some 800 diseases. In each case, the editorial team has solicited contributions from international experts--for example, John Menkes writes about Menkes disease, John McGrath reviews McGrath syndrome, and Kurt Hirschhorn discusses Wolf-Hirschhorn syndrome.

Despite its emphasis on rare disorders, the book covers many diseases that the general practitioner should be prepared to encounter. In the USA, a "rare" disease is one known to affect fewer than 200 000 people. As a result, this book reviews a broad spectrum of diseases--from those that affect fewer than 100 people to diseases that affect some 200 000 people. Some diseases are also included that are not considered rare from a global perspective. According to the book's introduction, the topics selected were ones judged not to have been covered thoroughly in existing texts and disorders that tend to be misdiagnosed, even though they may have been covered well previously.

Generalists, including family physicians, paediatricians, and specialists in internal medicine, are the main audience for this guide. The book will also be useful for those who work at national and local health institutions or departments that provide access to health care. One of the aims of the guide is to encourage earlier diagnosis for patients, who can go for several years without a proper diagnosis because their disease is rare.

The entries are short and readable, each begins with a brief, general discussion that is followed by sections on differential diagnosis, aetiology, presenting signs and symptoms, and standard therapies. Investigational therapies, when they exist, are briefly noted. The section of the synonyms is important and useful to identify the diseases; it is common for the same disease to be officially reported with a different name creating misunderstanding. Since most of the diseases are genetic, it would have been useful to have more information on genetic risk and tools of prevention if they exist. Each entry is footnoted with details of patients' organisations and other sources of assistance for patients and their families. Contact information and websites are provided for these organisations. There is also a list of about 1000 products that have been designated orphan drugs in the USA with sponsoring companies.

Although many of the book's contributors are from American universities and government offices (most notably the National Institutes of Health and Centers for Disease Control and Prevention), there are also many contributors from other countries, including Magnus Aberg of Sweden, Joe Clarke of Canada, Jean-Pierre Fryns of Belgium, Yuji Okura of Japan, and Lucia Bartoloni of Italy, among many others. In that respect, this book is a refreshing reminder that the world's differences are becoming fewer and geographical divisions less pronounced in the medical community, if not always in other aspects of our lives.

Michele Lipucci di Paola
e-mail:mlipucci@agr.unipi.it