Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Gabriella Miller Kids First Pediatric Research Program in Enchondromatoses and Related Malignant Tumors

ABSTRACT: Gabriella Miller Kids First Pediatric Research Program in Enchondromatoses and Related Malignant Tumors

PROVIDER: PRJNA609368 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Similar Datasets

Gabriella Miller Kids First Pediatric Research Program in Enchondromatoses and Related Malignant Tumors

Project description:Gabriella Miller Kids First Pediatric Research Program in Enchondromatoses and Related Malignant Tumors

| PRJNA609367 | ENA

Gabriella Miller Kids First Pediatric Research Project in Microtia in Hispanic Populations

Project description:Gabriella Miller Kids First Pediatric Research Project in Microtia in Hispanic Populations

| PRJNA671166 | ENA

Gabriella Miller Kids First Pediatric Research Project in Microtia in Hispanic Populations

Project description:Gabriella Miller Kids First Pediatric Research Project in Microtia in Hispanic Populations

| PRJNA671167 | ENA

Gabriella Miller Kids First - Novel Cancer Susceptibility in Families (from BASIC3)

Project description:Gabriella Miller Kids First - Novel Cancer Susceptibility in Families (from BASIC3)

| PRJNA559004 | ENA

Gabriella Miller Kids First Pediatric Research Project in Cornelia de Lange Syndrome, Related Diagnosis and Structural Birth Defects

Project description:Gabriella Miller Kids First Pediatric Research Project in Cornelia de Lange Syndrome, Related Diagnosis and Structural Birth Defects

| PRJNA671181 | ENA

Gabriella Miller Kids First Pediatric Research Project in Cornelia de Lange Syndrome, Related Diagnosis and Structural Birth Defects

Project description:Gabriella Miller Kids First Pediatric Research Project in Cornelia de Lange Syndrome, Related Diagnosis and Structural Birth Defects

| PRJNA671182 | ENA

Gabriella Miller Kids First Pediatric Research Program in Craniofacial Microsomia

Project description:The Gabriella Miller Kids First Pediatric Research Program (Kids First) is a trans-NIH effort initiated in response to the 2014 Gabriella Miller Kids First Research Act and supported by the NIH Common Fund. This program focuses on gene discovery in pediatric cancers and structural birth defects and the development of the Gabriella Miller Kids First Pediatric Data Resource (Kids First Data Resource). <div> </div><div>All of the WGS and phenotypic data from this study are accessible through dbGaP and kidsfirstdrc.org, where other Kids First datasets can also be accessed. </div><div> </div><div>Craniofacial microsomia (CFM), also termed hemifacial microsomia or oculo-auricular-vertebral spectrum, is the third most common congenital craniofacial condition. CFM comprises a variable phenotype and the most common features include malformations of the ear (i.e. microtia) and lower jaw (i.e. mandibular hypoplasia) on one or both sides. Microtia in the absence of other anomalies is believed to represent the mildest form of CFM. The cause of CFM is unknown for most affected individuals. We have established a cohort through previous studies and collected DNA to identify the genetic contributions to CFM, which could facilitate diagnosis, tailored treatments and guide prevention strategies. Successful completion of this proposal will advance knowledge in the genetic architecture of susceptibility to CFM and will provide insight about the biological mechanisms underlying craniofacial development. The results from this study have the potential to further research on the etiology of other craniofacial conditions, and the pathogenesis of typical and atypical craniofacial development. </div><div><br></div>

| phs002130 | dbGaP

Gabriella Miller Kids First Pediatric Research Project in Microtia in Hispanic Populations

Project description:<p>The Gabriella Miller Kids First Pediatric Research Program (Kids First) is a trans-NIH effort initiated in response to the 2014 Gabriella Miller Kids First Research Act and supported by the NIH Common Fund. This program focuses on gene discovery in pediatric cancers and structural birth defects and the development of the Gabriella Miller Kids First Pediatric Data Resource (Kids First Data Resource).</p><p> </p><div> </div><div>All of the WGS and phenotypic data from this study are accessible through dbGaP and <a href="https://kidsfirstdrc.org/" target="_blank">kidsfirstdrc.org</a>, where other Kids First datasets can also be accessed.</div><div><br></div><div> </div><div> </div><div>Microtia is a rare congenital deformity of the external ear, the pinna. The severity of microtia is variable and ranges from subtle deformities in the pinna to absence of the external ear. Microtia is often associated with closure of the external auditory ear canal causing significant hearing loss. Microtia can be an isolated, unilateral or bilateral malformation, or occur solely with ear canal deformities, or with additional craniofacial or syndromic manifestations. Earlier studies of identical twins with microtia demonstrated a significant genetic contribution. The molecular pathogenesis for most microtia remains unknown. We propose to leverage our clinical acumen in diagnosis and treatment of microtia (R.E.), our relationship to the microtia community (M.T.) and our collected DNA samples from microtia patients to identify genetic variant(s) that contribute to this congenital malformation. Microtia prevalence is much higher among Native Americans and some Latin Americans (17 per 10000 Ecuadorian births) than among individuals of European-descent (0.6 -1.6 per 10,000 births). To capitalize on this epidemiologic data, we have recruited microtia cohorts from Latin America and the U.S, including clinical data and DNA samples. </div><div><br></div><p></p>

| phs002172 | dbGaP

Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21.

Project description: Not available

| S-EPMC6981325 | biostudies-literature

Kids First Pediatric Research Program in Neuroblastoma

Project description:Kids First Pediatric Research Program in Neuroblastoma

| PRJNA399223 | ENA