Pamela Feliciano
A5006993209- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Cancer Genomics and Diagnostics
- PI3K/AKT/mTOR signaling in cancer
- Cancer Cells and Metastasis
- CRISPR and Genetic Engineering
- Family and Disability Support Research
- RNA regulation and disease
- Cancer, Hypoxia, and Metabolism
- Metabolism, Diabetes, and Cancer
- Hedgehog Signaling Pathway Studies
- interferon and immune responses
- RNA Interference and Gene Delivery
- Pluripotent Stem Cells Research
- Lung Cancer Treatments and Mutations
- Amyotrophic Lateral Sclerosis Research
- MicroRNA in disease regulation
- Malaria Research and Control
- Ethics in Clinical Research
- Epigenetics and DNA Methylation
- Genomics and Chromatin Dynamics
- Neurogenesis and neuroplasticity mechanisms
Simons Foundation
2015-2024
Boston Children's Hospital
2024
Harvard University
2024
Baylor College of Medicine
2023
Abstract To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new cases recruited online by SPARK. We identified 60 genes with exome-wide significance ( P < 2.5 × 10 −6 ), five NAV3 , ITSN1 MARK2 SCAF1 HNRNPUL2 ). The association is primarily driven loss-of-function (LoF) variants, an estimated relative 4, consistent moderate effect. Autistic individuals LoF four...
Abstract Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by combination of rare de novo and inherited variants as well common in at least several hundred genes. However, significantly larger sample sizes are needed to identify the complete set genetic risk factors. We conducted pilot study for SPARK (SPARKForAutism.org) 457 families with ASD, all consented online. Whole exome sequencing (WES) genotyping data were generated each family using DNA from saliva....
Most genes associated with neurodevelopmental disorders (NDDs) were identified an excess of de novo mutations (DNMs) but the significance in case-control mutation burden analysis is unestablished. Here, we sequence 63 16,294 NDD cases and additional 62 6,211 cases. By combining these published data, assess a total 125 over 16,000 compare to nonpsychiatric controls from ExAC. We identify 48 (25 newly reported) showing significant ultra-rare (MAF < 0.01%) gene-disruptive (FDR 5%), six which...
The impact of the 2019 coronavirus pandemic (COVID-19) in United States is unprecedented, with unknown implications for autism community. We surveyed 3502 parents/caregivers individuals an spectrum disorder (ASD) enrolled Simons Powering Autism Research Knowledge (SPARK) and found that most ASD experienced significant, ongoing disruptions to therapies. While some services were adapted telehealth format, participants not receiving such at follow-up, those who reported minimal benefit....
Autism spectrum disorder comprises several neurodevelopmental conditions presenting symptoms in social communication and restricted, repetitive behaviors. A major roadblock for drug development autism is the lack of robust behavioral signatures predictive clinical efficacy. To address this issue, we further characterized, a uniform rigorous way, mouse models that are interest because their construct validity wide availability to scientific community. We implemented broad battery included but...
The COVID‐19 pandemic has disrupted lives around the world. Autistic adults are at higher risk for co‐occurring medical and psychiatric conditions may be more prone to difficulties adapting pandemic‐related changes social distancing mandates coping with ongoing uncertainties. On other hand, lead greater understanding acceptance of accommodations in broader community that facilitate supports autistic beyond pandemic. To learn about their early experiences, online surveys were sent independent...
Most genetic studies consider autism spectrum disorder (ASD) and developmental (DD) separately despite overwhelming comorbidity shared etiology. Here, we analyzed de novo variants (DNVs) from 15,560 ASD (6,557 SPARK) 31,052 DD trios independently also combined as broader neurodevelopmental disorders (NDDs) using three models. We identify 615 NDD candidate genes (false discovery rate [FDR] < 0.05) supported by ≥1 models, including 138 reaching Bonferroni exome-wide significance (P 3.64e-7) in...
To expand, analyze and extend published behavioral phenotypes relevant to autism spectrum disorder (ASD), we present a study of three ASD genetic mouse models: Feng's Shank3tm2Gfng model, hereafter Shank3/F, Jiang's Shank3tm1Yhj Shank3/J the Cacna1c deletion model. The Shank3 models mimick gene mutations associated with Phelan-McDermid Syndrome model recapitulates underlying Timothy syndrome. This utilizes both standard novel tests same methodology used in our previously companion report on...
The link between the oral microbiome and neurodevelopmental disorders remains a compelling hypothesis, still requiring confirmation in large-scale datasets. Leveraging over 7000 whole-genome sequenced salivary samples from 2025 US families with children diagnosed autism spectrum (ASD), our cross-sectional study shows that composition can discriminate ASD subjects neurotypical siblings (NTs, AUC = 0.66), 108 differentiating species (q < 0.005). relative abundance of these is highly correlated...
Abstract Background: SPARK launched in 2016 to build a US cohort of autistic individuals and their family members. Enrollment includes online consent share data optional provide saliva for genomic analysis. SPARK’s recruitment strategies include social media support nation-wide network clinical sites. This study evaluates enroll core population. Methods: Individuals who joined between January 31, 2018, May 29, 2019 were included the Data sociodemographic characteristics, site referral,...
Abstract Introduction: Under enrollment of participants in clinical research is costly and delays study completion to impact public health. Given that personnel make decisions about which strategies pursue are the recipients these efforts, we surveyed staff ( n = 52) 4,144) affiliated with SPARK (Simons Foundation Powering Autism for Knowledge) – largest autism U.S. understand their perceptions effective recruitment strategies. Methods: In Study 1, were asked report they tried indicate ones...
An amendment to this paper has been published and can be accessed via a link at the top of paper.
Abstract Despite the known heritable nature of autism spectrum disorder (ASD), studies have primarily identified risk genes with de novo variants (DNVs). To capture full ASD genetic risk, we performed a two-stage analysis rare and inherited coding in 42,607 cases, including 35,130 new cases recruited online by SPARK. In first stage, analyzed 19,843 one or both biological parents found that neurodevelopmental (NDD) explain nearly 70% burden conferred DNVs. contrast, less than 20%...
Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by combination of rare de novo and inherited variants as well common in at least several hundred genes. However, significantly larger sample sizes are needed to identify the complete set genetic risk factors. We conducted pilot study for SPARK (SPARKForAutism.org) 457 families with ASD, all consented online. Whole exome sequencing (WES) genotyping data were generated each family using DNA from saliva. identified...