Ingrid A. Holm
A5002943479- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Ethics in Clinical Research
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Prenatal Screening and Diagnostics
- Neuroscience of respiration and sleep
- Metabolism and Genetic Disorders
- Ethics and Legal Issues in Pediatric Healthcare
- Congenital heart defects research
- Parathyroid Disorders and Treatments
- Health Systems, Economic Evaluations, Quality of Life
- Autism Spectrum Disorder Research
- Neonatal Respiratory Health Research
- RNA Research and Splicing
- Biomedical Ethics and Regulation
- Genetic Associations and Epidemiology
- RNA modifications and cancer
- Childhood Cancer Survivors' Quality of Life
- Neurogenetic and Muscular Disorders Research
- Epigenetics and DNA Methylation
- Biomedical Text Mining and Ontologies
- Genetic factors in colorectal cancer
- Cellular transport and secretion
Harvard University
2016-2025
Boston Children's Hospital
2016-2025
Dana-Farber/Boston Children's Cancer and Blood Disorders Center
2015-2024
Northwestern University
2024
Boston Children's Museum
2013-2024
University of California System
2022
Broad Institute
2022
Cincinnati Children's Hospital Medical Center
2022
Children's Hospital of Philadelphia
2022
Children's Hospital & Medical Center
2022
There are few better examples of the need for data sharing than in rare disease community, where patients, physicians, and researchers must search "the needle a haystack" to uncover rare, novel causes within genome. Impeding pace discovery has been existence many small siloed datasets individual research or clinical laboratory databases and/or disease-specific organizations, hoping serendipitous occasions when two distant investigators happen learn they have phenotype common can "match"...
There is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into best practices in the areas of sequence data generation, analysis, interpretation reporting. The CLARITY Challenge was designed spur convergence diagnosing genetic disease starting from case history data. DNA samples were obtained three families with heritable disorders genomic donated by platform vendors....
BACKGROUND: Multiple lines of evidence indicate a strong genetic contribution to autism spectrum disorders (ASDs). Current guidelines for clinical testing recommend G-banded karyotype detect chromosomal abnormalities and fragile X DNA testing, but microarray analysis have not been established. PATIENTS AND METHODS: A cohort 933 patients received diagnosis ASD between January 2006 December 2008. Clinical included karyotype, (CMA) test submicroscopic genomic deletions duplications. Diagnostic...
We describe here the design and initial implementation of eMERGE-PGx project. eMERGE-PGx, a partnership Electronic Medical Records Genomics Network Pharmacogenomics Research Network, has three objectives: (i) to deploy PGRNseq, next-generation sequencing platform assessing sequence variation in 84 proposed pharmacogenes, nearly 9,000 patients likely be prescribed drugs interest 1- 3-year time frame across several clinical sites; (ii) integrate well-established clinically validated...
In 2011, an Advanced Notice of Proposed Rulemaking proposed that de-identified human data and specimens be included in biobanks only if patients provide consent. The National Institutes Health Genomic Data Sharing policy went into effect 2015, requiring broad consent from almost all research participants.We conducted a systematic literature review attitudes toward biobanking, consent, sharing. Bibliographic databases MEDLINE, Web Science, EthxWeb, GenETHX. Study screening was using...
The rapid development of genomic sequencing technologies has decreased the cost genetic analysis to extent that it seems plausible genome-scale could have widespread availability in pediatric care. Genomic provides a powerful diagnostic modality for patients who manifest symptoms monogenic disease and an opportunity detect health conditions before their development. However, many technical, clinical, ethical, societal challenges should be addressed such technology is widely deployed...
Significance This paper provides unique insights into mechanism-based therapeutics for Rett syndrome (RTT), a devastating neurodevelopmental disorder. clinical trial was based on pioneer preclinical work from the laboratory of M.S. Outcome measures include instruments, standardized behavioral measures, and biomarkers, latter being not only objective but also applicable to experimental studies. We believe this will have major impact understanding treatment RTT, as well other disorders.
Genetic variation can affect drug response in multiple ways, although it remains unclear how rare genetic variants response. The electronic Medical Records and Genomics (eMERGE) Network, collaborating with the Pharmacogenomics Research began eMERGE‐PGx, a targeted sequencing study to assess 82 pharmacogenes critical for implementation of “precision medicine.” February 2015 eMERGE‐PGx data release includes sequence‐derived from ∼5,000 clinical subjects. We present variant frequency spectrum...
Tubulin, one of the most abundant cytoskeletal building blocks, has numerous isotypes in metazoans encoded by different conserved genes. Whether these distinct form cell type– and context-specific microtubule structures is poorly understood. Based on a cohort 12 patients with primary ciliary dyskinesia as well mouse mutants, we identified characterized variants TUBB4B isotype that specifically perturbed centriole cilium biogenesis. Distinct differentially affected dynamics cilia formation...
Vitamin D has been added to milk in the United States since 1930s prevent rickets. We report unusual occurrence of eight cases vitamin intoxication that appear have caused by excessive fortification dairy milk. Methods. Medical records were reviewed and a dietary questionnaire was sent patients who had unexplained hypervitaminosis D. analyses with high-performance liquid chromatography performed on samples patients' serum, they drank, concentrate
Adults with beta thalassemia major frequently have low BMD, fractures, and bone pain. The purpose of this study was to determine the prevalence pain in all syndromes childhood, adolescence, adulthood, associations BMD fractures pain, etiology disease thalassemia. Patients Thalassemia Clinical Research Network, > or =6 yr age, no preexisting medical condition affecting mass requiring steroids, participated. We measured spine femur whole body BMC by DXA assessed vertebral abnormalities...
This study aimed to determine differences in the rates of growth, endocrine- and calcium-related abnormalities various thalassemia syndromes North America treated with current therapies. Medical history, physical examinations blood urine collections were obtained from patients all age 6 years older Thalassemia Clinical Research Network. 361 subjects, 49% male, mean 23.2 (range 6.1-75 years) studied. Approximately 25% children adults, regardless syndrome, had short stature. Overall growth was...
Autism Spectrum Disorders (ASD) is a spectrum of highly heritable neurodevelopmental disorders in which known mutations contribute to disease risk 20% cases. Here, we report the results largest blood transcriptome study date that aims identify differences 170 ASD cases and 115 age/sex-matched controls evaluate utility gene expression profiling as tool aid diagnosis ASD. The differentially expressed genes were enriched for neurotrophin signaling, long-term potentiation/depression, notch...
The greatest opportunity for lifelong impact of genomic sequencing is during the newborn period. "BabySeq Project" a randomized trial that explores medical, behavioral, and economic impacts integrating into care healthy sick newborns.Families newborns are enrolled from Boston Children's Hospital Brigham Women's nurseries, half to receive report includes monogenic disease variants, recessive carrier variants childhood onset or actionable disorders, pharmacogenomic variants. All families...