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At the Megakaryocytes to Platelets Research Group at Boston Children’s Hospital, we research how megakaryocytes make blood platelets, and the role(s) that these platelets play in different disease states. The group was founded by our two principal …
Karp Family Research Building 1 Blackfan Circle, Floor 11 Boston, MA 02115 Post-doctoral fellowships The Megakaryocytes to Platelets Research Group is always on the lookout for talented and motivated individuals to join our team. Any individuals …
Nephrotic syndrome (NS) NIH Grant Research Aims: Discover the missing single-gene causes of SRNS by WES in ~1,000 SRNS families. Functionally characterize newly identified single-gene causes of SRNS/SSNS to delineate the pathogenesis and study …
Renal Transplant Whole-exome sequencing (WES) finds a CKD-related mutation in approximately 20% of patients presenting with CKD before 25 years of age. Although provision of a molecular diagnosis could have important implications for clinical management, …
What is Exception from Informed Consent (EFIC)? The U.S. Food and Drug Administration (FDA) is an agency of the federal government that oversees human research protection involving medicines. The FDA has created a set of special rules, called “Exception …
R01AI128976 (TA Chatila, PI) 9/01/2018 – 8/31/2022 NIH/NIAID Mechanisms of Combined Immunodeficiency due to DOCK8 Deficiency: The focus of the study will elucidate how DOCK8 and STAT3 interact to mediate gene regulation, and how the breakdown in their …
Phenotypic and Genetic Factors in Autism Spectrum Disorders (ASD) Ching M, Nasir R, Shen Y, Tan W, Jeste S, Morrow E, Chen X, Mukaddess NM, Yoo S, Hanson E, et al.(2010). Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental …
Since the summer of 2005, more than 80 college students have participated in our lab’s student training program. Students have the opportunity to observe clinics in the Developmental Medicine Center, attend research study visits, and assist with tasks …
Physical risks associated with participating in the Registry are related only to obtaining a blood sample. While there are no physical risks associated with gathering medical and family history information, some of this information may be uncomfortable …
Tetralogy of Fallot Approximately 1 in 100 babies is born with some form of congenital heart disease. Tetralogy of Fallot (TOF) is a common form of congenital heart disease and accounts for approximately 10% of cases of congenital heart disease in the …