FocusWe are focused on treating rare, inherited disorders where the disease burden on children, families and caregivers is immense, and where current therapeutic options often do not exist, are suboptimal or are associated with severe complications. Read more about the diseases we’re working on with extraordinary effort and groundbreaking science, and learn why we share families’ sense of urgency to advance the development of investigational therapies.
Neurometabolic disorders are a group of conditions characterized by issues with brain function and metabolism, or the process by which the body converts food into energy.
PRIMARY IMMUNE DEFICIENCIES
Primary immune deficiencies are a group of rare, genetic disorders in which the immune system does not function properly, leading to frequent infections that can be life-threatening.
Hemoglobinopathies are a group of inherited disorders in which a genetic abnormality affects the body’s ability to produce functional red blood cells.
Are you living with a rare disease, or are you a family member or a caregiver to someone who is? Find support services and resources here.