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Mapping and sequencing: From gene to genome
Published in Peter S. Harper, The Evolution of Medical Genetics, 2019
Returning to the wider consequences of the Human Genome Project, another major and international ‘downstream’ project involving the human genome, with medical importance even though primarily biological, is the now largely completed Human Variome Project, analysing sequence variation between different human populations. It is clearly essential when looking for disease-causing sequence abnormalities to be as sure as possible whether or not a finding is indeed causative; a knowledge of population differences is a vital part of this, particularly now that minorities with different ethnic origins are represented in most developed countries, not confined to their place of origin.
Introduction
Published in Shirley Sun, Socio-economics of Personalized Medicine in Asia, 2016
Malaysia, Indonesia, and the Philippines are also in the developing stages. For instance, the “Malaysia Human Genome Variation Consortium” (the Malaysian node of the Human Variome Project) is concerned with mapping genome diversity in the country (Pasha and Scaria, 2013). Also, it specifically “aims to determine the migratory history of the country’s populations, the genetic similarities between them and the implications of these variations on the various facets of research including pharmacogenomic” (Pasha and Scaria, 2013:197).
Avatrombopag improves thrombocytopenia in MYH9-related disorder following eltrombopag treatment failure
Published in Platelets, 2022
Abdul Rehman Arif, Miaomiao Zhao, Wenlan Chen, Mei Xue, Shanshan Luo, Yadan Wang
Several clinical trials and case reports have shown that thrombopoietin receptor agonists (TPO-RAs), eltrombopag (ELT), and romiplostim are effective treatments for increasing platelet counts in most patients with this disorder; however, avatrombopag (AVA) has not yet been studied [8]. The possible reason is that AVA was the latest oral TPO-RAs approved by the Food and Drug Administration in the United States for the treatment of chronic immune thrombocytopenia (cITP) [9,10]. Here, we present a case of a missense mutation, MYH9 c.4550 G > T(p.G1517V), in a patient with symptomatic thrombocytopenia. This mutation has not been previously recorded in the Global Variome database. Moreover, upon administration of AVA to the patient, the thrombocytopenia improved, even after failing to respond to ELT treatment.
A novel mutation in ATM gene in a Saudi female with ataxia telangiectasia
Published in International Journal of Neuroscience, 2021
Hussein Algahtani, Bader Shirah, Raghad Algahtani, Mohammad H. Al-Qahtani, Angham Abdulrahman Abdulkareem, Muhammad Imran Naseer
There are 12 individuals heterozygous for the c.1516G > T, p.(Gly506Cys) variant in the Genome Aggregation Database (gnomAD, n > 120,000 exomes and >15,000 genomes). This variant has also been identified in 12 heterozygous individuals out of 993 individuals in the Greater Middle East (GME) Variome Project. This variant is predicted damaging by all three in silico tools used (SIFT 0.12, PolyPhen (phyloP46way_placental), and Mutation 2.0 Tester). The ATM c.1516G > T, p.(Gly506Cys) variant has been reported in at least one individual who underwent hereditary cancer panel testing. It has also been detected in clinical testing of ataxia telangiectasia syndrome and hereditary cancer-predisposing syndrome by different laboratories, all classifying the variant as a variant of uncertain significance (ClinVar variation ID_127339).
Global Globin 2020 Challenge: The Past, Present and Future
Published in Hemoglobin, 2019
Hemoglobinopathies are the most common monogenic diseases in the world with an estimated carrier rate of 5.2% of the world’s population and 330,000 affected births recorded every year worldwide. Most of the hemoglobinopathies carriers are found in low-middle income countries and the disease burden is associated with negative economic impact for the affected countries. The Global Globin 2020 (GG2020) Challenge is a global initiative of the Human Variome Project (HVP). It was established in 2015 to utilize recent developments in human genomics to fight hemoglobinopathies, especially in low-middle income countries and build capacity for clinical services, genomic diagnosis and research. Through collecting and sharing of variation data via gene/variation portals such as Ithanet, ClinVar and ClinGen, genetic data for disease-causing and disease-modifying mutations of hemoglobinopathies and epidemiological data linked to each sequence variation will be easily accessible to researchers and clinicians worldwide. This presentation also focuses on recent developments by GG2020 member countries including the progression on the development of a new point-of-care rapid diagnostic device for thalassemia and a community outreach program, EduVariome.