Day :
- Medical Genetics
Location: Track 4
Session Introduction
Farkhondeh Pouresmaeili
Shahid Beheshti University of Medical Sciences, Iran
Title: Vaginal Microbiome of Women with Unexplained Recurrent Miscarriages vs. Fertile
Time : 10:00 - 10:30
Biography:
She spent her undergraduate study in Tehran University in Biology and Master degree in Tarbiat Modares University in Genetics, both Tehran-Iran. She was later successfully graduated with PhD degree in Molecular Genetics and Molecular Biology from McGill University, Montreal-Canada, year 1997. Her specific concern is Reproductive Genetics, in particular Women’s health like POF, PCOS, and Reproductive Cancer genetics that She would like to follow in an interdisciplinary cooperation in the future. She welcome any collaboration with the ones who are interested in the above fields.
Abstract:
Having knowledge of a balanced vaginal microbiome is very helpful in preventing women's diseases and maintaining their reproductive health, and therefore, to obtain vital information on this matter, it is necessary to know the bacterial strains that create this balance. In the present study, the vaginal flora of two groups of women with recurrent abortions (RA) and one group without a history of abortions was compared. Samples were taken from the vaginal wall of 30 patients with RA without a known cause and 30 healthy volunteers, and after culturing in the primary liquid medium and extracting bacteria by the kit, the genus and species of bacteria in the samples were determined by PCR and genus-specific primers. The species was identified by comparison with the bacterial 16S ribosomal RNA gene.
Analysis of real-time PCR data showed that the bacterial population structure is significantly different between the RA group and the control group. The frequency of three strains (gasseri, fermentum, and vaginalis) in the control group, and the high frequency of four strains (ruminis, acidophilus, iners, and rhamnosus) in the RA group had a significant difference.
In conclusion, the present results provide experimental evidence of vaginal flora imbalance in Iranian women with recurrent abortions. In order to better understand the unknown causes of the disease, it is necessary to compare and understand the difference in vaginal flora among a larger population of women of reproductive age (healthy and with a history of abortion) and with controlled nutritional and stress patterns.
- Genomics
Location: Track 14
Session Introduction
Andoh Cletus Tandoh
University of Yaounde I, Cameroon
Title: GENOME EDITING AND HUMAN GENETIC DISEASES: NEW POSSIBILITIES AND CHALLENGES RELATED TO HEALTHCARE FOR AFRICA
Time : 10:30 - 11:00
Biography:
Andoh Cletus tandoh is a bioethicist and philosopher, lecturing Applied Ethics, Bioethics and other specialties in Philosophy at the University of Yaounde I, Cameroon, and founding president of the Cameroon Society for the Advancement of Bioethics. His primary research interest is on the ethical challenges of scientific research with human beings and he has published several articles around this theme within the context of Africa. In 2017, he organized the international African conference on: Human Genome Editing. Science, Ethics and Policy, Yaounde, Cameroon. And in June, 8-10, 2020: Genome Editing, Human Genetic Disorders and Knowledge Development in Sub-Saharan Africa,, Yaounde, Cameroon. He was a visiting scholar at the Europaische Akademie, Bad Neuenahr-Ahrweiler, Germany between 2007-2008, where he worked on his research project entitled “The Ethical Dimensions of Technological Progress: An African Perspective”. He was also the Global Bioethics Education Initiative Scholar in 2011, the Centre for Bioethics and Human Dignity (USA). He serves as an Expert in the UNESCO Ethics Expert Panel of the Human Varium Project and its Bioethics Working Group. From 2018-2019, he was guest scientist at the Institute for Medical Ethics and History of Medicine, University of Gottingen, Germany, where he worked on the topic “Human Genome Editing: Possibilities and Challenges Related to Healthcare in Africa”.
Abstract:
Currently, medical practice and approaches to healthcare delivery in Sub-Saharan Africa are increasingly obsolete and harmful to the vulnerable population afflicted with high disease burden. This requires new strategies and approaches to redress the situation and of putting plans into practice for integrating the often neglected genetic component and impact on our health and risk factors for diseases. The genetic basis of human diseases and disorders is poorly understood as human genetics and genomic medicine remain domains of study which are largely unexplored, under-researched, and under-funded in Africa. Meanwhile, developments in genome editing technologies and new scientific innovations offer new knowledge to advance the economic, health and political agendas, and approaches that can be used to reform medicine and transform healthcare delivery in Africa. Despite the advances, there is a huge persistent knowledge gap in understanding the connection between genetics, diseases and environmental factors, and how genes impact human health and risk to our lives. Further, much data is acquired from the mapping of the human genome on the genetic origins and cause of diseases, and evidence indicating that some monogenic diseases are cured using genome editing, but gene editing technologies are not yet applied to treat the genetic causes of diseases that run in families in Africa. Still, genetic diseases are life-threatening and leading causes of death, but not much is done to incorporate these components into medical practice and in healthcare delivery to improve health span, lifespan, and wellbeing in Africa. Most existing genetic data used in research is overwhelmingly from white people and the benefits of genomic medicine remain restricted to high-income countries. I address the knowledge gap and disparity in access to genomic medicine, and argue for a paradigm shift in the one size fits all approach to healthcare towards incorporation of precision medicine in Sub-Saharan Africa.
- Genetic Disorders
Location: Track 5
Session Introduction
Nilesh Kumar
D.Y. Patil Vidyapeeth, India
Title: Nail metabopsy: An early non-invasive and affordable approach for detection of inherited metabolic disorders (IMDs) among neonates
Biography:
Biography: (Dr. Nilesh Kumar Sharma completed his Ph.D. from the Indian Institute of Technology, Roorkee in 2009 with a Health Science specialization (Free Radical Biology and Oxidative Stress). Dr. Sharma has completed post-doctoral research training for more than three years in DNA repair genes and cancer biology at NIEHS, NIH, USA, and Rutgers University, New Jersey Medical School, NJ, USA. Currently, a Professor (Specialization Cancer Biology and Medical Biotechnology) at DYPBBI, Dr. D. Y. Patil Vidyapeeth, Pune, India. Dr. Sharma has actively been engaged in academic work to teach subjects like Cancer Biology, Immunology, Molecular Cell Signaling, and Molecular Biology to undergraduate and postgraduate students Dr. Sharma has been credited with more than 90 publications including in indexed National and International journals, book chapters/conference proceedings, Seven Indian patents (Published and Granting process is in progress), and Several new mimetic of metabolites are designed and submitted to PubChem.
Abstract:
Statement of the Problem: Inherited metabolic disorders (IMDs) are known to represent various forms of clinical conditions with the compromised metabolic landscape of an individual that may be manifested in various stages of life starting from neonates to adolescence. Individual cases of IMD such as organic aciduria are rare, but collectively are noticeable with moderate to severe clinical manifestations. However, an approach for the early detection of IMDs among neonates is highly limited. Methodology & Theoretical Orientation: We have developed a novel methodology for the metabopsy of nail clippings by using an in-house designed VTGE system. Further, LC-HRMS was used for the detection of metabolites such as 4-hydroxyproline ad organic acids to screen IMDs. Further, we have extended such observation to develop a mimetic of proline (MIPRO) against prolyl hydroxylase by using molecular docking and MD simulations. MIPRO is proposed as a potential small molecular inhibitor that prolyl hydroxylase that can alleviate the issue of high accumulation of hydroxyproline in tissue and free forms that leads to IMDs such as hyperhydroxyprolinemia. Findings: We have identified the high accumulation of hydroxyproline and organic acids in the nail clippings of suspected cases of IMDs among neonates. This is one of the first and novel approaches to using nail clippings for the screening of IMDs. We have designed MOPH as a potential inhibitor of prolyl hydroxylase that could serve as a proof of concept for the alleviation of IMDs. Conclusion and Significance: Taken together, the relevance of nail metabopsy are emphasized in the context of screening for IMDs such as hyperhydroxyprolinemia and organic aciduria. In the future, they could be explored at preclinical and clinical levels for early detection of IMDs and the development of mimetic drugs against IMDs.