Project description:BackgroundGenomic medicine is revolutionizing the diagnosis of rare diseases, but the implementation has not benefited underrepresented populations to the same degree. Here, we report the case of a 7-year-old boy with hypotonia, global developmental delay, strabismus, seizures, and previously suspected mitochondrial myopathy. This proband comes from an underrepresented minority and was denied exome sequencing by his public insurance.MethodsAfter informed consent was obtained, buccal cells from the proband were collected and whole exome sequencing was performed. Illumina Dragen and Emedgene software was used to analyze the data at Baylor Genetics. The variants were further intepreted according to ACMG guidelines and the patient's phenotype.ResultsThrough whole-exome sequencing (WES) under the Community Texome project, he was found to have a heterozygous de novo pathogenic variant in the ATP1A3 gene located on chromosome 19q13.ConclusionIn retrospect, his symptomatology matches the known medical conditions associated with the ATP1A3 gene namely Alternating Hemiplegia of Childhood 2 (AHC), a rare autosomal dominant disorder with an incidence of 1 in one million. His single nucleotide variant, (c.2401G>A, p.D801N), is predicted to be damaging. The specific amino acid change p.D801N has been previously reported in ClinVar along with the allelic variant p.D801Y and both are considered pathogenic. The identification of this variant altered medical management for this patient as he was started on a calcium antagonist and has reported no further hemiplegic episodes. This case illustrates the value of implementing genomic medicine for precision therapy in underserved populations.

| S-EPMC10724509 | biostudies-literature

Differences in serum proteins in traditional Chinese medicine constitutional population: analysis and verification

Project description:Using high-throughput antibody microarray, through cross-sectional sample detection and verification of samples that had undergone physical changes over time, it was found that people with balanced constitution and dampness constitution in Chinese medicine showed differences in serum protein expression. The differences were expressed as the level changes of 19 proteins such as Dectin-2, Siglec-7, AIF and TACI. The research results provided the basis for the scientific expression of traditional Chinese medicine (TCM) constitution.

2019-11-22 | GSE140769 | GEO

medicine metagenome

Project description:medicine metagenome Raw sequence reads

| PRJNA884878 | ENA

medicine metagenome

Project description:medicine metagenome Raw sequence reads

| PRJNA903771 | ENA

traditional chinese medicine

Project description:traditional chinese medicine Targeted loci

| PRJNA796441 | ENA