Precsion medicine of monogenic disorders Lessons learned from the Saudi human genome

10.2741/4757 ◽  
2019 ◽  
Vol 24 (5) ◽  
pp. 870-889 ◽  
Author(s):  
Malak S Abedalthagafi
Keyword(s):  
Human Genome ◽  
Lessons Learned ◽  
Monogenic Disorders

scholarly journals Breakdown of T cell tolerance and autoimmunity in primary immunodeficiency—lessons learned from monogenic disorders in mice and men

2008 ◽  
Vol 20 (6) ◽  
pp. 646-654 ◽  
Author(s):  
Lisa S Westerberg ◽  
Christoph Klein ◽  
Scott B Snapper
Keyword(s):  
T Cell ◽  
Primary Immunodeficiency ◽  
Lessons Learned ◽  
T Cell Tolerance ◽  
Cell Tolerance ◽  
Monogenic Disorders

scholarly journals First Nigerian Bioinformatics Conference (FNBC): Towards a dynamic bioinformatics community

2019 ◽  
Author(s):  
ThankGod E. Ebenezer ◽  
Itunuoluwa Isewon ◽  
Elijah Kolawole Oladipo ◽  
Olaitan I. Awe ◽  
Marion Adebiyi ◽  
...  
Keyword(s):  
Human Genome ◽  
Human Genome Project ◽  
Central Africa ◽  
Genome Project ◽  
Lessons Learned ◽  
New Era ◽  
The Human Genome Project ◽  
Dynamic Community ◽  
Analytical Approaches ◽  
Bioinformatics Community

The human genome project, which was completed in 2003, ushered in a new era of scientific applications in medicine and bioscience, and also enhanced the generation of high-throughput data which required laboratory and computational analytical approaches in fields known as genomics and bioinformatics respectively. Internationally, specific advances have been achieved which involved the formation and emergence of strong scientific communities to sustain these technological advancements. On the African continent and regionally, the Human Hereditary and Health in Africa (H3Africa), Biosciences eastern and central Africa - International Livestock Research Institute (BecA - ILRI) Hub, and the Alliance for Accelerated Crop Improvements in Africa (ACACIA), are helping to push some of these advances in human health, biosciences, and agriculture respectively. In Nigeria, we believe that significant advances have also been made by various groups since the human genome project was completed. However, a scientific gathering platform to sustainably enable scientists discuss and update these progresses remained elusive. In this article, we report the First Nigerian Bioinformatics Conference (FNBC) hosted by the Nigerian Bioinformatics and Genomics Network (NBGN) in collaboration with the Nigerian Institute of Medical Research (NIMR). The conference was held from 24th - 26th June, 2019, with the theme: “Bioinformatics in the era of genomics in Africa”. Quantitatively, the conference recorded 195 online registered participants, and up to 186 actual participants; comprising of 8 keynote speakers, 6 invited speakers, 25 oral presenters, 83 poster presenters, and up to 73 non-presenting participants. Attendees with national (up to 179) and international (up to 16) affiliations also participated at the conference. Qualitatively, broad scope of bioinformatics, genomics and molecular biology presentations in biomedicine, health, and biosciences were featured at the conference. We discuss the conference structure and activities, lessons learned, and way forward for future bioinformatics conferences in Nigeria. We further discuss the relevance of the conference which presents an increased visibility for the Nigerian bioinformatics community, positions Nigeria as a dynamic community player within the African bioinformatics space, and provides a platform for national impact through the application and implementation of the benefits of bioinformatics.

scholarly journals BRAIN: innovative neurotechnologies for imaging and therapeutics

2013 ◽  
Vol 15 (3) ◽  
pp. 241-243
Keyword(s):  
Human Genome ◽  
Human Genome Project ◽  
Brain Research ◽  
Genome Project ◽  
Lessons Learned ◽  
Innovative Technologies ◽  
Imaging Technologies ◽  
Therapeutic Decisions ◽  
The Human Genome Project ◽  
The Brain

Conceived with the aim of meeting the needs of the neurobiology and clinical communities, the Brain Research through Advancing Innovative Technologies (BRAIN) Initiative builds on the lessons learned from major projects in genetics, such as the Human Genome Project. It concentrates on the use of new imaging technologies in conjunction with genomics to inform therapeutic decisions.

scholarly journals Toward the correction of muscular dystrophy by gene editing

2021 ◽  
Vol 118 (22) ◽  
pp. e2004840117
Author(s):  
Eric N. Olson
Keyword(s):  
Muscular Dystrophy ◽  
Gene Editing ◽  
Genetic Disorder ◽  
Premature Death ◽  
Lessons Learned ◽  
Large Mammals ◽  
Gene Encoding ◽  
Monogenic Disorders ◽  
Dystrophin Expression ◽  
And Function

Recent advances in gene editing technologies are enabling the potential correction of devastating monogenic disorders through elimination of underlying genetic mutations. Duchenne muscular dystrophy (DMD) is an especially severe genetic disorder caused by mutations in the gene encoding dystrophin, a membrane-associated protein required for maintenance of muscle structure and function. Patients with DMD succumb to loss of mobility early in life, culminating in premature death from cardiac and respiratory failure. The disease has thus far defied all curative strategies. CRISPR gene editing has provided new opportunities to ameliorate the disease by eliminating DMD mutations and thereby restore dystrophin expression throughout skeletal and cardiac muscle. Proof-of-concept studies in rodents, large mammals, and human cells have validated the potential of this approach, but numerous challenges remain to be addressed, including optimization of gene editing, delivery of gene editing components throughout the musculature, and mitigation of possible immune responses. This paper provides an overview of recent work from our laboratory and others toward the genetic correction of DMD and considers the opportunities and challenges in the path to clinical translation. Lessons learned from these studies will undoubtedly enable further applications of gene editing to numerous other diseases of muscle and other tissues.

DNA methylation in satellite repeats disorders

2019 ◽  
Vol 63 (6) ◽  
pp. 757-771 ◽  
Author(s):  
Claire Francastel ◽  
Frédérique Magdinier
Keyword(s):  
Dna Methylation ◽  
Human Genome ◽  
Repetitive Dna ◽  
Dna Sequences ◽  
Satellite Repeats ◽  
Tremendous Progress ◽  
Genes Encoding ◽  
Dna Elements ◽  
Near Future

Abstract Despite the tremendous progress made in recent years in assembling the human genome, tandemly repeated DNA elements remain poorly characterized. These sequences account for the vast majority of methylated sites in the human genome and their methylated state is necessary for this repetitive DNA to function properly and to maintain genome integrity. Furthermore, recent advances highlight the emerging role of these sequences in regulating the functions of the human genome and its variability during evolution, among individuals, or in disease susceptibility. In addition, a number of inherited rare diseases are directly linked to the alteration of some of these repetitive DNA sequences, either through changes in the organization or size of the tandem repeat arrays or through mutations in genes encoding chromatin modifiers involved in the epigenetic regulation of these elements. Although largely overlooked so far in the functional annotation of the human genome, satellite elements play key roles in its architectural and topological organization. This includes functions as boundary elements delimitating functional domains or assembly of repressive nuclear compartments, with local or distal impact on gene expression. Thus, the consideration of satellite repeats organization and their associated epigenetic landmarks, including DNA methylation (DNAme), will become unavoidable in the near future to fully decipher human phenotypes and associated diseases.

Lessons Learned From Coaching Postsecondary Students With Traumatic Brain Injury

2020 ◽  
Vol 5 (1) ◽  
pp. 88-96
Author(s):  
Mary R. T. Kennedy
Keyword(s):  
College Students ◽  
Traumatic Brain Injury ◽  
Brain Injury ◽  
Sense Of Self ◽  
Scientific Evidence ◽  
Sudden Onset ◽  
Lessons Learned ◽  
Speech Language Pathologists ◽  
The Brain ◽  
Exhaustive List

Purpose The purpose of this clinical focus article is to provide speech-language pathologists with a brief update of the evidence that provides possible explanations for our experiences while coaching college students with traumatic brain injury (TBI). Method The narrative text provides readers with lessons we learned as speech-language pathologists functioning as cognitive coaches to college students with TBI. This is not meant to be an exhaustive list, but rather to consider the recent scientific evidence that will help our understanding of how best to coach these college students. Conclusion Four lessons are described. Lesson 1 focuses on the value of self-reported responses to surveys, questionnaires, and interviews. Lesson 2 addresses the use of immediate/proximal goals as leverage for students to update their sense of self and how their abilities and disabilities may alter their more distal goals. Lesson 3 reminds us that teamwork is necessary to address the complex issues facing these students, which include their developmental stage, the sudden onset of trauma to the brain, and having to navigate going to college with a TBI. Lesson 4 focuses on the need for college students with TBI to learn how to self-advocate with instructors, family, and peers.

Experiences With and Lessons Learned From Developing, Implementing, and Evaluating a Support Program for Older Hearing Aid Users and Their Communication Partners in the Hearing Aid Dispensing Setting

2020 ◽  
Vol 29 (3S) ◽  
pp. 638-647 ◽  
Author(s):  
Janine F. J. Meijerink ◽  
Marieke Pronk ◽  
Sophia E. Kramer
Keyword(s):  
Large Scale ◽  
Hearing Aid ◽  
Critical Discussion ◽  
Lessons Learned ◽  
Research Note ◽  
Support Program ◽  
Large Sample Size ◽  
Long Term Effects ◽  
Communication Program ◽  
Communication Partners

Purpose The SUpport PRogram (SUPR) study was carried out in the context of a private academic partnership and is the first study to evaluate the long-term effects of a communication program (SUPR) for older hearing aid users and their communication partners on a large scale in a hearing aid dispensing setting. The purpose of this research note is to reflect on the lessons that we learned during the different development, implementation, and evaluation phases of the SUPR project. Procedure This research note describes the procedures that were followed during the different phases of the SUPR project and provides a critical discussion to describe the strengths and weaknesses of the approach taken. Conclusion This research note might provide researchers and intervention developers with useful insights as to how aural rehabilitation interventions, such as the SUPR, can be developed by incorporating the needs of the different stakeholders, evaluated by using a robust research design (including a large sample size and a longer term follow-up assessment), and implemented widely by collaborating with a private partner (hearing aid dispensing practice chain).

Lessons Learned: My Path from PhD to Postdoc to Tenure Track

2014 ◽  
Vol 4 (1) ◽  
pp. 1-17
Author(s):  
Cara Stepp
Keyword(s):  
Lessons Learned ◽  
Tenure Track

Maximizing Outcomes in Group Treatment of Aphasia: Lessons Learned From a Community-Based Center

2014 ◽  
Vol 24 (3) ◽  
pp. 100-105 ◽  
Author(s):  
Darlene Williamson
Keyword(s):  
Group Treatment ◽  
Treatment Protocol ◽  
Lessons Learned ◽  
Group Program ◽  
Community Based ◽  
Multiple Treatment ◽  
Use Of Technology ◽  
Communication Impairments ◽  
Treatment Settings

Given the potential of long term intervention to positively influence speech/language and psychosocial domains, a treatment protocol was developed at the Stroke Comeback Center which addresses communication impairments arising from chronic aphasia. This article presents the details of this program including the group purposes and principles, the use of technology in groups, and the applicability of a group program across multiple treatment settings.

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