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Human Sleep Behaviors

  • Familial Advanced Sleep Phase Syndrome (FASPS)

  • Familial Delayed Sleep Phase Syndrome (FDSPS)

  • Familial Natural Short Sleepers (FNSS)

  • Advanced Sleep Phase Syndrome of Aging

Neurodegeneration

  • Autosomal Dominant Leukodystrophy (ADLD)

  • Spinocerebellar Ataxia 4 (SCA4)

  • Parkinson's Disease

Episodic Disorders

  • Paroxysmal Kinesigenic Dyskinesia (PKD)

  • Paroxysmal Non-kinesigenic Dyskinesia (PNKD)

  • Hypokalemic Periodic Paralysis

  • Hyperkalemic Periodic Paralysis

  • Thyrotoxic Periodic Paralysis

  • Andersen-Tawil Syndrome

  • Episodic Ataxia

  • Migraine

  • Epilepsy

  • Photic Sneeze Reflex

 

All normal variation and diseases in humans result from interactions of genetics and environmental factors. By studying familial disorders with strong genetic contributions, it is possible to localize and identify genes that cause human disease. These genes are blueprints for proteins which can be studied to better understand the biology underlying such disorders. Only through such understanding can we hope to better help patients with these diseases.

Research in the Laboratories of Neurogenetics is funded by the National Institutes of Health, the Howard Hughes Medical Institute, the Dystonia Medical Research Foundation, the Muscular Dystrophy Association, and the National Multiple Sclerosis Society.