Boston Children's Hospital

  • PHEFREE Logo
    The Phenylalanine Families and Researchers Exploring Evidence (PHEFREE) Consortium studies the health, neurologic, cognitive, neuropsychiatric, patient-reported and quality-of-life outcomes in individuals with chronic elevations of the amino acid phenylalanine in blood (hyperphenylalaninemia). In the United States, elevated blood phenylalanine is typically detected at birth through newborn
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    2022 CLIC-Sponsored Hub-Hosted Un-Meeting

    The Genomic Information Commons (GIC) is an NCATS/NIH funded continuously updating, queryable, federated system enabling and promoting clinical and genomic research across eight pediatric hospitals. A GIC goal is to harmonize IT, regulatory and workflow components across sites for sharing genomic and phenotypic data (including EHR data on millions of patients), as well as biospecimen metadata on broadly consented cohorts.

    At this potentially transformative moment, GIC sites seek innovative and collaborative ideas from across the CTSA Consortium

  • 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, costly to manage, and can cause serious complications such as hemorrhages, seizures, and problems with spinal cord, nerve or brain function. Over
  • DSC_RDCRN
    Autism spectrum disorder (ASD) affects 1 in 59 children in the United States and is a major public health concern and challenge. The Developmental Synaptopathies Consortium (DSC) aims to explore the underlying causes of autism by focusing on three rare genetic disorders related to ASD, including Tuberous Sclerosis Complex (TSC), PTEN Hamartoma Tumor Syndrome (PHTS) and Phelan-McDermid Syndrome