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Congenital Dystrophies - Neuromuscular Disorders Precision Medicine: Genomics to Care and Cure
- Conference date: 11–13 Jan 2020
- Location: Doha-Qatar
- Volume number: 2020
- Published: 15 September 2020
21 - 26 of 26 results
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Qatar Population Biobank: Cohort Profile
By Nahla AfifiQatar has developed the most advanced population cohort study in the region and stands parallel with some of the best and most established biobanks in the world. The study, while playing an important role in the development of precision medicine within Qatar, also aims to be a national reference database for research conducted on the Arab population. Researchers can access the extensive data catalogue with data collected on topics that range from health and lifestyle to mental health and genetic risk factors along with over 16 clinical measurements and biological samples, which result in clinical analysis on over 77 biomarkers. Unlike many other biobanks, participants are not recruited through clinic or hospital services but come from campaigns using social media or recruitment drives, with over 25,000 participants recruited to date. One of the attractions for the population in participating with Qatar Biobank is the feedback and referral service that has been established. Over 54% of participants required a referral for either an existing condition (18%) or 81% were for a new or unknown condition. An overall review of the data collected up until June 2019 showed that the most common conditions requiring referral included abnormal bone mineral density at 44%, which is identified by a combination of IDXA scan T score results and Vitamin D levels. Dyslipidemia at 14% and closely followed by 13% of the Qatar Biobank population for diabetes. Other results commonly being referred include abnormal thyroid function tests at 11.0% and osteoporosis at 6%. These feedback results emphasize the importance of the work being conducted by Qatar Biobank.
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Qatar Genome: From Basic Research to Clinical Integration
By Said IsmailThe Qatar Genome Programme (QGP) is an ambitious project promoting the implementation of genomic medicine in Qatar. The project has an overarching mission including developing guidelines and policies, encouraging research collaborations, building a national genomic data infrastructure, investing in local talent; and promoting the integration of genomics within the national healthcare system. The first phase of the project started in September 2015, with the objective of unraveling the genetic map of the local population. More than 18,000 whole genomes have been sequenced since then. Qatar Genome fosters local genomic research by direct funding as well as by facilitating the formation of research consortia to analyze the big data it produces. QGP also plays an important role in training local young researchers through internships and workshops in addition to two new graduate programs established in collaboration with local partner universities. Furthermore, QGP have performed national surveys to gauge public and professional attitudes and awareness levels on precision medicine. The outcomes of these surveys will guide the design of future phases of the project to fit the specific requirements of the Qatari population. The focus of Qatar Genome in the near future will move in the direction of introducing more precision medicine practices into the local health care system. National level partnerships are built between major local stakeholders and early implementation projects are launched to show the impact of precision medicine on patients.
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Neuromuscular Disorders: Clinical, Genomic and Proteomic Databases
More LessBuilding clinical and genetic databases for inherited muscle diseases in Qatar was one of our aims for the PPM1 grant that we were awarded. Through this QNRF-funded research grant, 267 subjects were enrolled: 222 subjects were recruited and 45 patients’ data were collected from the medical records of HMC-Cerner system. Of the 267 subjects, 127 were patients and 140 were unaffected family members. All recruitments were at HMC-site. Clinical data collection and data entry for NMDs patients have been completed for 124 of the 127 patients (3 patients removed from the clinical database due to a confirmed genetic diagnosis of a central disease associated with muscle weakness rather than primary muscular diseases). The 124 patients were derived from 104 families of 18 different ethnicities. The percent distributions of three main ethnic groups were 54% Qatari patients, 28% Arab (non-Qatari) and 18% as non-Arab. The Arab non-Qatari families involved 10 ethnicities and the non-Arab families involved 7 ethnicities. The ethnic origin of the 104 families was distributed over 6 subcontinents; 69% were West Asian, 13% South Asian, 11% North African, 4% sub-saharan African, 2% southeast Asian, and 1% Western European. We categorized the NMDs in our patients’ cohort into 9 main clinical groups with the congenital muscular dystrophy, CMD, as the most prevalent group. The genetic analysis of 118 NMDs patients, applying whole genome sequencing, has successfully identified the disease-causing genes in 95 patients. The causative genes have remained yet unidentified in 23 patients. The concluded detection rate in our cohort was 81%. Two founder recessively inherited mutations, in LAMA2 and SCGA genes were identified in Qatari patients. Details of the distribution of mutated genes and variants’ inheritance/ classification will be presented. Applying the Aptamer-based Somalogic large scale proteomic screening, our study identified 58 of 1317 protein markers significantly altered in patients as compared to the healthy control. 73 of 1317 markers were significantly altered in a selected subgroup of patients that had LAMA2 related congenital muscular dystrophy. There were 32 proteins in common between all cases and the subgroup. Of these 32 common proteins, 21 markers have been shown to replicate another published international study on Duchenne Muscular Dystrophy, which points to a high reliability of our results.
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Genomic and National Databases: Rare Diseases and Precision Medicine Perspectives: Panel Discussion
Authors: Said Ismail, Reem Al Sulaiman, Khalid Fakhro, Noha Yousri, Mohamed Saad, Nahla Afifi, Volker Straub and Alice Abdel AleemQatar has tremendous efforts and expanded funds in establishing highly-informative genomic resources. Qatar Biobank for Medical Research and Qatar Genome Programme are examples of such efforts. There are certain challenges as well as opportunities in the utilization of these resources for feeding the nationally funded research. This includes determining which actionable plans that require implementation to maximize the benefits and output of these genomic resources. The employment of genomic and large data programs in translational research and national clinical trials is the ultimate goal we aim to accomplish. Taking into consideration the trials readiness and outcome measures, the panel’s discussion will address the best first examples to bring precision medicine to practice in Qatar. The development of clinical, genomic, and proteomic sets of databases for Qatar based NMDs-patients should serve the Qatar National Plans in the field of genetics of rare monogenic diseases.
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COL6A Mutations in Patients with Congenital Muscular Dystrophy
Authors: Vidya Nair, Mahmoud Elsaid, Rana Al Shami, Noora ElMudehki, Khalid Mohamed, Khalid Ibrahim and Alice AbdelAleemIntroduction: Mutations in genes-encoding collagen VI-a chain are known to cause congenital muscular dystrophies, (CMDs). Aim: Screening for COL6A mutations in CMDs’ patients. Methods: WGS, Sanger sequencing, plasmids-construction, Western-blot and RT-PCR. Results: Missense and novel nonsense mutations in COL6A1 and COL6A2 were detected. The analysis revealed a decreased stability of the COL6A mutants as compared to wild-type. Conclusion: Collagen related muscular dystrophies may demonstrate the early presentation as of joints and bone involvement rather than of muscular weakness hence, likely may be misdiagnosed. Collagen VI muscular dystrophy was not identified in Qatari patients with muscular dystrophies, in our cohort.
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Muscle-specific Expression of Erry in the Myostatin Null Background Leads to the Development of Hypertrophied Oxidative Muscle
Authors: Saleh Omairi, Antonios Matsakas, Silvia Torelli and Ketan PatelA fundamental concept of skeletal muscle proposes an inverse relation between oxidative metabolic potential of muscle fiber and its cross-sectional area (CSA). The dystrophin-glycoprotein complex (DGC) play a vital role in transducing the contractile force of myofibrils as well as mitigating contraction-induced damage. Aims: Investigate the relationships between muscle fibersize and oxidative capacity, and muscle fiber-phenotype with DGC. Methods: We obtained the hypertrophic-highly oxidative phosphorylation model by over-expressing the estrogen-related receptor gamma (Erry) on the Myostatin (a potential inhibitor of skeletal muscle enlargement) null (Mtn -/-) background mice. Results: Superimposition of Erry on the Mtn-/- background results in hypertrophic muscle that displays a high oxidative capacity (Mtn-/-/ErryTg/+ ). Conclusion: The study revealed firstly that the prospect of producing muscle fibers that have large CSA are associated with high oxidative capacity. Secondly, the expression of sarcolemma DGC proteins would be massively regulated by the metabolic phenotype of muscle fibers.
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