Publications by authors named "A Hamosh"
Article Synopsis
- The study investigates the genetic variance (variome) of the Turkish population, focusing on how admixture and consanguinity influence their genomic makeup related to diseases.
- Exome sequencing data from 773 affected individuals and 643 unaffected relatives revealed that Turkish genomes are closely related to Europeans, with two main subpopulations showing different levels of genetic mixing.
- The analysis identified that higher inbreeding coefficients and longer runs of homozygosity in affected individuals are linked to rare harmful genetic variants, emphasizing their role in hereditary diseases within this population.
Purpose: The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (SD-GCEP) was formed to address an unmet need.
Methods: The SD-GCEP applied ClinGen's framework to evaluate the clinical validity of genes associated with rare syndromic disorders. 111 Gene-Disease Relationships (GDRs) associated with 100 genes spanning the clinical spectrum of syndromic disorders were curated.
Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare, inborn error of metabolism, that causes hypoglycemia and lactic acidosis in response to inadequate glucose intake and/or high intakes of fructose, sucrose, or sorbitol. Pregnancy in women with FBPase deficiency puts them at high risk for metabolic decompensation due to increased glucose demands from the growing fetus. Here we report a 31-year-old primipara who was treated starting at 14 weeks gestation with a diet high in complex carbohydrates and low in fructose, sucrose, and sorbitol and close monitoring of glucose levels throughout her pregnancy.
View Article and Find Full Text PDFImproving health and social equity for persons living with a rare disease (PLWRD) is increasingly recognized as a global policy priority. However, there is currently no international alignment on how to define and describe rare diseases. A global reference is needed to establish a mutual understanding to inform a wide range of stakeholders for actions.
View Article and Find Full Text PDFArticle Synopsis
- Establishing which specific disease entity to focus on is crucial for accurately assessing the relationship between genes and monogenic disorders, influencing the classification of gene-disease validity and variant pathogenicity.* -
- Due to some genes affecting multiple phenotypes, a continuous process of re-evaluating disease names and categories is needed, coordinated by the Disease Naming Advisory Committee (DNAC) formed by ClinGen, Mondo, and OMIM.* -
- The DNAC aims to create consistent guidance for disease naming across various groups, improving communication and standardization in gene-disease research, while addressing existing inconsistencies in the identification of monogenic disorders.*