Disease List
List of possible diseases to research: (this is only a small list of diseases -- don’t limit yourself to just the diseases on this
list. Feel free to choose a disease of someone you know who has been diagnosed)
• Alzheimer’s disease (AD; degenerative dementia)
• Amyotrophic lateral sclerosis (ALS; Lou Gehrig's Disease; progressive motor function loss leading to paralysis
and death)
• Ataxia telangiectasia (AT; progressive brain disorder resulting in loss of muscle control and cancers)
• Breast cancer (make sure you focus on information involving the BRCA 1 and BRCA 2 genes)
• Charcot-Marie-Tooth (CMT; loss of feeling in ends of limbs)
• Congenital adrenal hyperplasia (CAH; hormone deficiency; ambiguous genitalia and male
pseudohermaphroditism)
• Cystic fibrosis (CF; disease of lung and pancreas resulting in thick mucous accumulations and chronic infections)
• Duane syndrome (DS; eye movement disorder)
• Duchenne muscular dystrophy/Becker muscular dystrophy (DMD; severe to mild muscle wasting,
deterioration, weakness)
• Dystonia (DYT; muscle rigidity, repetitive twisting movements)
• Fanconi anemia, group C (FA; anemia, leukemia, skeletal deformities)
• Factor V-Leiden (FVL; blood-clotting disorder)
• Fragile X syndrome (FRAX; leading cause of inherited mental retardation)
• Gaucher disease (GD; enlarged liver and spleen, bone degeneration)
• Hemochromatosis (iron overload in blood)
• Hemophilia A and B (HEMA and HEMB; bleeding disorders)
• Hereditary hemochromatosis (HFE; excess iron storage disorder)
• Huntington's disease (HD; usually midlife onset; progressive, lethal, degenerative neurological disease)
• Klinefelter’s syndrome (affects male reproductive system)
• Myotonic dystrophy (MD; progressive muscle weakness; most common form of adult muscular dystrophy)
• Neurofibromatosis type 1 (NF1; multiple benign nervous system tumors that can be disfiguring; cancers)
• Parkinson’s disease (PD; degeneration of the central nervous system)
• Phenylketonuria (PKU; progressive mental retardation due to missing enzyme; correctable by diet)
• Adult polycystic kidney disease (APKD; kidney failure and liver disease)
• Prader Willi/Angelman syndromes (PW/A; decreased motor skills, cognitive impairment, early death)
• Sickle cell disease (SS; blood cell disorder; chronic pain and infections)
• Spinocerebellar ataxia, type 1 (SCA1; involuntary muscle movements, reflex disorders, explosive speech)
• Spinal muscular atrophy (SMA; severe, usually lethal progressive muscle-wasting disorder in children)
• Thalassemias (THAL; anemias - reduced red blood cell levels)
• Tay-Sachs disease (TS; fatal neurological disease of early childhood; seizures, paralysis)
• Turner’s syndrome (absence of female sex chromosome)