Boston Children's Hospital

  • Primary Immune Deficiency Treatment Consortium

    The Primary Immune Deficiency Treatment Consortium (PIDTC) was established in 2009 to study and define optimal treatments for rare genetic disorders of the immune system, collectively known as primary immunodeficiency diseases. The PIDTC includes 44 immunology and transplantation centers throughout the United States and Canada as well as six patient advocacy groups. In its first nine years, the

  • North American Mitochondrial Disease Consortium (NAMDC)

    Mitochondrial diseases affect approximately 1 in every 5,000 people. These diseases can cause muscle weakness, difficulty thinking, seizures, hearing and vision loss, digestive problems, learning disabilities, and organ failure. The North American Mitochondrial Disease Consortium (NAMDC) is a network of clinicians and researchers at 17 different clinical sites working to better understand

  • Brain Vascular Malformation Consortium (BVMC)

    The Brain Vascular Malformation Consortium (BVMC) focuses on three rare brain conditions: familial cerebral cavernous malformation (CCM), Sturge-Weber syndrome (SWS), and hereditary hemorrhagic telangiectasia (HHT). These disorders are poorly understood, are costly to manage, and can cause serious complications such as hemorrhages, seizures, and problems with spinal cord, nerve or brain function

  • DSC_RDCRN
    The Developmental Synaptopathies Consortium is composed of a group of medical centers throughout the US studying three related rare genetic syndromes that often cause autism spectrum disorder and intellectual disability. Autism spectrum disorder and intellectual disability (ASD/ID) are severe neurodevelopmental conditions with early childhood onset. Advances in genetics have indicated that ASD/ID