Alpha-1-antitrypsin Deficiency - A Simplified Description
Alpha-1-antitrypsin deficiency is a common hereditary disorder characterized by a reduction of serum levels of Alpha-1, emphysema, and occasionally liver disease.... Details >
Alpha1 Association |
Check Your Cystic Fibrosis I.Q.
Test your knowledge of cystic fibrosis. Answer true or false to the statements online and find out what you know or don't know about this respiratory disease.... Details >
American Association for Respiratory Care |
Clinical Features of Shwachman-Diamond Syndrome
This document presents the various clinical characteristics of Shwachman-Diamond Syndrome sorted into two categories: the primary features (those that are likely a direct result of the genetic fault t... Details >
Shwachman-Diamond America |
Gene Therapy and Cystic Fibrosis
A patient education brochure that discusses gene therapy as a potentially a life-saving treatment that tackles the root cause of cystic fibrosis (CF), rather than the symptoms. Topics covered include ... Details >
Cystic Fibrosis Foundation |
Genetic and Rare Conditions: Support Groups & Information Page
Professionals, educators, or individuals seeking information on genetic conditions or birth defects can use this directory to locate national and international organizations, or contact a genetic coun... Details >
Educational Institution--Follow the Resource URL for More Information |
Genetics and Neuromuscular Diseases
Also available in: Spanish
This brochure describes just what a genetic disorder is, and explains how genetic testing and counseling can help people understand how disorders that may affect themselves or their children are inher... Details >
Muscular Dystrophy Association |
Have a Personal or Family History of Cancer? Consider Joining the Cancer Genetics Network
This fact sheet describes the Cancer Genetics Network and provides contact information for Network Centers.... Details >
National Cancer Institute, National Institutes of Health |
Maple Syrup Urine Disease
Maple Syrup Urine Disease (MSUD) is an inherited metabolic disorder, that, if untreated, causes mental retardation, physical disabilities and death.... Details >
Maple Syrup Urine Diseases Family Support Group |
Progeria Publications and Abstracts
This document lists over 100 publications and abstracts related to progeria.... Details >
Progeria Research Foundation, Inc. |
The National MSP ( mucopolysaccharide ) Society Inc.
MPS and Mucolipidoses (ML) are rare genetically determined disorders caused by the body's inability to produce certain enzymes. This results in an abnormal deposit of complex sugars in tissues and cel... Details >
National MPS Society, Inc. |
