1887
  1. الرئيسية
  2. وقائع المؤتمر
  3. QScience Proceedings
  4. وقائع المؤتمر

Congenital Dystrophies - Neuromuscular Disorders Precision Medicine: Genomics to Care and Cure

  • تاريخ المؤتمر: 11–13 Jan 2020
  • الموقع: Doha-Qatar
  • رقم المجلد: 2020
  • المنشور: ١٥ سبتمبر ٢٠٢٠

21 - 26 of 26 نتائج

    • Qatar Population Biobank: Cohort Profile

      المؤلفون: Nahla Afifi
      https://doi.org/10.5339/qproc.2020.NMD.21

      Qatar 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.

    • Qatar Genome: From Basic Research to Clinical Integration

      المؤلفون: Said Ismail
      https://doi.org/10.5339/qproc.2020.NMD.22

      The 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.

    • Neuromuscular Disorders: Clinical, Genomic and Proteomic Databases

      المؤلفون: Alice Abdel Aleem
      https://doi.org/10.5339/qproc.2020.NMD.23

      Building 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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