Projects using the Precision Link Biobank for Health Discovery

Study Title PI Brief Description
Genetics of Epilepsy and other related disorders Ann Poduri Genetic factors related to epilepsy and related neurological disorders are being studied to improve treatment of epilepsy and other neurological disorders.
Genetics of Early Childhood Obesity Joel Hirschhorn Genetic research is being conducted to help doctors better understand how people grow which will hopefully lead to earlier diagnosis and treatment of excessive weight gain in children.
Genetics of Short Stature Joel Hirschhorn The purpose of this project is to find new genetic causes of short stature. We hope the knowledge we gain from this research will help us to understand how people grow and lead to earlier diagnosis and new treatments of problems leading to poor growth.
Fecal and Serologic Biomarkers for Use in the Diagnosis and Interval Assessment of Patients with IBD Paul Rufo Stool samples are being collected to assess for markers that can be used in the diagnosis and interval assessment of patients with known or suspected inflammatory bowel disease (IBD).
Cardiovascular and Critical Care Biorepository William Pu New biorepository that utilized HDP infrastructure Cardiomyopathy/Heart Failure Biorepository.
Genetics of Opsoclonus Myoclonus Syndrome (OMS) study Mark Gorman To describe the genetic basis for host anti-tumor immunity and autoimmunity in Opsoclonus Myoclonus Syndrome (OMS) by executing whole-genome sequencing (WGS) and determining plausible disease-causing variants.
Testing of New or Modified Magnetic Resonance Methods Richard Robertson Prospective collection of MRI images that can be linked with clinical and specimen data to better inform clinical diagnostic tools and procedures
N/A, cohort building Ari Wassner Patients who undergo thyroid nodule surgery and patients with Graves' Disease.
N/A, cohort building Mike Mendelson Patients with confirmed or suspected hyperlipidemia.
N/A, cohort building Olaf Bodamer All patients who are seen in the BCH genetics outpatient clinics.
N/A, cohort building Dave Kantor Parents and patients on ECMO or admitted for Esophageal Atresia.
N/A, cohort building Mary Mullen Patients with pulmonary arterial hypertension (PAH).
N/A, cohort building Camilla Richmond Patients who may have Bariatric Surgery.
Origins of Asthma David Kantor Plasma from patients without asthma was used in a study investigating factors that contribute to acute asthma severity.
Regulation of antibody responses Arlene Sharpe (HMS)
Margaret Kenna (BCH)
Tonsil tissue was used in a study to better understand the function of CD4 T cells in the autoimmune system.
An environment-wide association study in autism spectrum disorder using novel bioinformatics methods and metabolomics via mass spectrometry Sek Won Kong Plasma from patients both with and without autism is being used to investigate internal and external environmental exposures that may have contributed to the significant increase in autism prevalence in the U.S.
The Manton Center for Orphan Disease Research Discovery Core (GDC) Catherine Brownstein Completed a comparison of serum levels of TRRAP with control children serum samples to determine if there is a relation to very early onset psychosis.
High-throughput identification of autoantibodies in IPEX and IPEX like patients Christopher Walsh (BCH)
Mohammad Dezfulian (BWH)
Plasma is being used to identify markers specifically associated with the immune dysfunction of IPEX and IPEX like patients, which are of extreme value for diagnostic purposes, and to decipher the extent of Tregs contribution to B-cell tolerance and homeostasis.
AD Biomarker in human plasma Michael Rogers (BCH)
David Mengel (BWH)
Plasma samples will be used to determine blood levels of [Autism Disorder] AD-relevant proteins across different ages to study age-related trajectories of these biomarkers. These research efforts will feed into strategies to monitor and treat AD pathology in DS individuals.
Gene expression in Trisomy 21 Sarah Norton (BCH)
Christine & Jonathan Seidman (HMS)
Plasma was used to study short stature, growth outcomes, and other abnormalities of the bone often seen with Trisomy 21.
The Manton Center for Orphan Disease Research Discovery Core (GDC) Joseph Gonzalez Biobank CSF specimens will be used to establish baseline gene expression and protein expression in CSF in children, for later comparison to very early onset psychosis and schizophrenia patients.