Skip to content

Rare Diseases

Introduction
Books
Journals
Internet

Introduction

The purpose of this guide is to assist faculty, students, and staff of the University of Chicago find information about rare diseases and disorders. This guide is not meant to be exhaustive but to highlight key resources to help you start your research.

Book Resources

Finding a recent guide specifically on the disease in question may be difficult as there are very few books entirely devoted to a specific rare disease, or that are tagged with a subject or title of "Rare Diseases 101". Genetic related conditions and diseases are spread over many potential call number ranges in genetics, pediatrics, human embryology, anatomical pathology, etc. Due to the explosion in the information within medical genetics, there will probably be some adjustments within the classifications schemes of the Library of Congress in the future.

In the meantime, try focusing on the general characteristics of your disease. For example, does your disease impact a specific system of the body? Then check the RC classification for textbooks in internal medicine related to the region of the body your disease impacts. For example, Diseases of the Cardiovascular System RC 666-701. Diseases of the Respiratory System RC 705-779. Is your disease caused from environmental, pharmaceutical (RM, RS), or genetic origins? Try looking in textbooks within these disciplines to see if you can find a reference.

You can also browse through the following subject headings/ call numbers in the area of genetics for help.

  • Genetics (Human chromosome abnormalities) (QH 426-470)
  • Human Embryology (QM 601 -695)
  • Abnormalities, Human (QM 601 -695)
  • Theories of Disease. Pathogenesis (RB 151-214)
  • Genetic Disorders (RB155...)
  • Metabolism, Inborn errors of (RC 627.5 - 632)
  • Metabolism -- Disorders (RC 627.5 - 632)
  • The Embryo and Fetus (RG 600 - 650)

For electronic access to books, try searching the MD Consult database. You can search within an individual textbook, or run a search across >35 textbooks simultaneously for your topic.

Use the Library catalog to locate relevant print and electronic books in the University Library. To see what Libraries in the Chicago region and beyond own, use FirstSearch WorldCat, a catalog of books, web resources, and more for North American member libraries.

Browse or search the catalog using broad and narrow subject terms related to your disease. Catalog tip: use the "*" wildcard to search for variations of your root term. For example child* to search for child or children or children's.

Title
Date
Collection
Call#
Gale Encyclopedia of Genetic Disorders 2002 Crerar Reference RB155.5. G35
Fetal and neonatal pathology / 2001 Crerar Stacks RG 626 . F45 2001
Management of genetic syndromes 2001 Crerar Stacks RB 155. 5 . M36 2001
Rare kidney diseases Contributions to nephrology ; vol. 136 2001 Crerar Stacks RC 902. A1C6 v.136
Human embryology & teratology 2001 Crerar Stacks QM 601 . O73 2001
The handbook of genetic communicative disorders / edited by Sanford E. Gerber. 2001 Crerar Stacks RB155.5 .H36 2001
Human chromosomes 2001 Crerar Stacks QH 431 . T436 2001
The encyclopedia of genetic disorders and birth defects. Series: Facts on File library of health and living 2000 Crerar Reference, floor 1 RB 155. 5 . W96 2000
Textbook of uncommon cancer. Edition: 2nd ed. 1999 Crerar Stacks RC262 .T432 1999
Metabolic diseases : foundations of clinical management, genetics, and pathology. 2000 Crerar Stacks RC 627. 54. G553 2000
Chemically induced birth defects 2000 Crerar Stacks RG 627. 6. D79 S33 2000
The complete directory for people with rare disorders : a comprehensive guide to over 1,000 rare disorders 1998/ 1999 Crerar Reference, floor 1 RC 48. 8. C66
Anesthesia & uncommon diseases 1998 Crerar Stacks RD 87 . A54 1998
Smith's recognizable patterns of human malformation 1997 Crerar Stacks RG 627. 5 . S57 1997
Embryos, genes, and birth defects 1997 Crerar Stacks QM 691 .E44 1997
Dictionary of medical syndromes 1997 Crerar Reference, floor 1 RC 69 . M33 1997
Neurology of hereditary metabolic diseases of children 1996 Crerar Stacks RJ 486 .A30 1996
The metabolic and molecular bases of inherited disease / 1995 Crerar Stacks RC 627.8.M470 1995
Physicians' guide to rare diseases. National Organization for Rare Disorders 1992 Crerar Reference, floor 1 RC55.P38
An atlas of clinical syndromes : a visual aid to diagnosis : for clinicians and practicing physicians 1991 Crerar Stacks RJ 48 .5 .W52130 1991
Birth defects encyclopedia : the comprehensive, systematic, illustrated reference source for the diagnosis, delineation, etiology, biodynamics, occurrence, prevention, and treatment of human anomalies of clinical relevance 1990 Crerar Reference, floor 1 QM 690 .B57 1990

Journals

Medline
There are two versions of the the Medline database available.
MEDLINE on Ovid and PubMed.

MEDLINE is the National Library of Medicine's premier database covering the fields of medicine, nursing, dentistry, veterinary medicine, the health care system, and the preclinical sciences. MEDLINE contains bibliographic citations and abstracts from more than 4,000 biomedical journals. The file contains over 11 million citations dating back to 1966.

Internet Resources

Sites were selected based upon the authority and/or reputation of the issuing body in addition to the quality and organization of the website. Federal organizations, medical associations, and private organizations are included. Often, parents or friends of the effected child create and support their own grassroots efforts to connect others with the same disease. Try searching the Internet for your condition to find such sites but be careful - these support groups may or may not contain accurate information. Try searching in Dirline (see below) to locate organizations which offer information on your disease.

Agency/Organization
Information Available
The Genetic Alliance (formerly the Alliance of Genetic Support Groups - AGSG)
The Genetic Alliance is dedicated to helping individuals and families with genetic disorders. The site provides publications and listings of events, and support groups.
Genetic and Rare Diseases Information Center (GARD)
Established by the National Human Genome Research Institute and the Office of Rare Diseases, GARD employs experienced information specialists to answer questions from the general public, including patients and their families, health care professionals, and biomedical researchers.
  • Telephone Operation Monday - Friday, 12 p.m. to 6 p.m. Eastern Time: Voice number: 888-205-2311 TTY number: 888-205-3223
  • E-mail or Fax (will be answered within 5-10 working days):E-mail: gardinfo@nih.gov Fax number: 202-966-5689
  • By U.S. Mail (will be answered within 5-10 working days): The Genetic and Rare Diseases Information Center P.O. Box 8126 Gaithersburg, MD 20898-8126 Note: The Center does not give medical advice, provide treatment or diagnose illness.
March of Dimes
"The mission of the March of Dimes is to improve the health of babies by preventing birth defects and infant mortality."

Medical Genetics, University of Kansas Medical Center
 A resource provided for patients and their families with referrals to UK specialty clinics and facilities.
National Center for Biotechnology Information, National Library of Medicine
Established in 1988 as a national resource for molecular biology information, NCBI creates public databases, conducts research in computational biology, develops software tools for analyzing genome data, and disseminates biomedical information - all for the better understanding of molecular processes affecting human health and disease.
  • See the Genes and Disease website - Most of the genetic disorders featured on this web site are the direct result of a mutation in one gene. Arranged by gene and by categories: Cancer, Immune System, Metabolism, Muscle and Bone, Nervous System, Cell Signaling, Transporters.

  • OMIM, Online Mendelian Inheritance in Man. This database is a catalog of human genes and genetic disorders.
National Library of Medicine The National Library of Medicine (NLM), on the campus of the National Institutes of Health in Bethesda, Maryland, is the world's largest medical library.
  • DIRLINE: (Directory of Information Resources Online) is a database containing location and descriptive information about a wide variety of information resources including organizations, research resources, projects, and databases concerned with health and biomedicine.

  • MedLine Plus: Rare Diseases. MEDLINEplus pages contain carefully selected links to Web resources with health information.
National Organization for Rare Disorders, Inc.
Organization dedicated toward the prevention, treatment, and cure of rare "orphan" diseases.
  • Search the Rare Disease Database - "the largest database of understandable information on rare disorders. Over 1,100 diseases are included".
Office of Rare Diseases (ORD) National Institutes of Health.
U.S. Food and Drug Administration: The Orphan Products Program. An orphan drug is defined in the 1984 amendments of the Orphan Drug Act as a drug intended to treat a condition affecting fewer than 200,000 persons in the United States, or which will not recover development costs, plus a reasonable profit, within 7 years following FDA approval.

If you have any questions about resources or services available to the biomedical sciences community please contact Deb Werner, Biomedical Reference Librarian or Christa Modschiedler, Biomedical Bibliographer & Reference Librarian. You may also email the Crerar Reference Staff.