AB083. Social media with cartoon characters as a powerful tool for expanding medical education and raising awareness of rare genetic diseases

UNSTRUCTURED This research study was designed to understand physician awareness and engagement with social media (sometimes referred to as #SoMe) within the digital landscape of healthcare delivery. An audience-response survey focused on social media “Social media in Healthcare: Physician Survey”, was administered during the “A Systematic Approach to Medically Unexplained Symptoms” continuing medical education conference. The Conference took place between August 22, 2019 and August 24, 2019. Data was collected on August 23, 2019. A range of 103 (59.5%) to 112 (64.7%) of the total 173 attendees participated in this cross-sectional audience-response survey, depending on the questions answered. Most responders were between the ages of 35 and 65 years (79.6%) and female (60.2%). A majority of responders were aware of social media terminology (88.7%), and many had used it personally (46.7%), but only 12% knew how to use social media to search medical topics, 18% used it to network professionally and most (68.9%) had a distrust of social media when it came to the protection of their privacy or their patients’ privacy. Overall, about 29.6% indicated an interest in future continued medical education focused on social media (and 27.4% were neutral). Awareness of social media’s role in healthcare has increased among physicians in practice, however their participation and knowledge of opportunities remains limited. Distance from academic institutions and concerns about privacy play the largest roles in the aversion towards professional use of social media.

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Considerations for Home-Based Treatment of Fabry Disease in Poland during the COVID-19 Pandemic and Beyond

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph18168242 ◽

2021 ◽

Vol 18 (16) ◽

pp. 8242

Author(s):

Michał Nowicki ◽

Stanisława Bazan-Socha ◽

Mariusz Kłopotowski ◽

Beata Błażejewska-Hyżorek ◽

Mariusz Kusztal ◽

...

Keyword(s):

Fabry Disease ◽

Genetic Diseases ◽

Healthcare Providers ◽

Treatment Programs ◽

Current Therapy ◽

Term Care ◽

Pharmacological Chaperone ◽

Enzyme Replacement ◽

Home Based ◽

Rare Genetic Diseases

Current therapy for Anderson–Fabry disease in Poland includes hospital or clinic-based intravenous enzyme replacement therapy with recombinant agalsidase alpha or beta, or oral pharmacological chaperone therapy with migalastat. Some countries around the world offer such treatment to patients in the comfort of their own homes. The 2020–2021 COVID-19 pandemic has pushed global healthcare providers to evolve their services so as to minimize the risk of COVID-19 exposure to both patients and providers; this has led to advances in telemedicine services and the increasing availability of at-home treatment for various procedures including parenteral drug administration. A total of 80% of surveyed Anderson–Fabry disease patients in Poland would prefer home-based treatment, which would be a safe and convenient alternative to clinic-based treatment if patient selection is based on our proposed algorithm. Our recommendations for home-based treatments appear feasible for the long term care of Anderson–Fabry disease patients during the COVID-19 pandemic and beyond. This may also serve as a basis for home-based treatment programs in other rare and ultra-rare genetic diseases.

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TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases

Cells ◽

10.3390/cells10040820 ◽

2021 ◽

Vol 10 (4) ◽

pp. 820

Author(s):

Lorena Kumarasinghe ◽

Lu Xiong ◽

Maria Adelaida Garcia-Gimeno ◽

Elisa Lazzari ◽

Pascual Sanz ◽

...

Keyword(s):

Common Ancestor ◽

Genetic Diseases ◽

Ubiquitin Ligases ◽

E3 Ubiquitin Ligases ◽

Lafora Disease ◽

C Terminus ◽

Rare Genetic Diseases ◽

Tripartite Motif ◽

Trim Proteins ◽

Ring E3

Tripartite motif (TRIM) proteins are RING E3 ubiquitin ligases defined by a shared domain structure. Several of them are implicated in rare genetic diseases, and mutations in TRIM32 and TRIM-like malin are associated with Limb-Girdle Muscular Dystrophy R8 and Lafora disease, respectively. These two proteins are evolutionary related, share a common ancestor, and both display NHL repeats at their C-terminus. Here, we revmniew the function of these two related E3 ubiquitin ligases discussing their intrinsic and possible common pathophysiological pathways.

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High-Throughput Sequencing and Rare Genetic Diseases

Molecular Syndromology ◽

10.1159/000343941 ◽

2012 ◽

Vol 3 (5) ◽

pp. 197-203 ◽

Cited By ~ 4

Author(s):

P. Makrythanasis ◽

S.E. Antonarakis

Keyword(s):

High Throughput ◽

High Throughput Sequencing ◽

Genetic Diseases ◽

Rare Genetic Diseases

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Burden of care in families of patients with rare genetic diseases: analysis of a large Italian cohort

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2021.104230 ◽

2021 ◽

pp. 104230

Author(s):

Alex Moretti ◽

Paola Cianci ◽

Anita De Paoli ◽

Francesca Meroni ◽

Silvia Tajè ◽

...

Keyword(s):

Genetic Diseases ◽

Burden Of Care ◽

Rare Genetic Diseases ◽

Italian Cohort

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Ethics and equity in rare disease research and healthcare

Personalized Medicine ◽

10.2217/pme-2020-0144 ◽

2021 ◽

Author(s):

Maria Koromina ◽

Vasileios Fanaras ◽

Gareth Baynam ◽

Christina Mitropoulou ◽

George P Patrinos

Keyword(s):

Rare Diseases ◽

Ethical Issues ◽

Genetic Diseases ◽

Ethical Framework ◽

Middle Income ◽

Next Generation Sequencing Technology ◽

Ethical Frameworks ◽

Rare Genetic Diseases ◽

Conducting Research ◽

Key Aspects

Rapid advances in next-generation sequencing technology, particularly whole exome sequencing and whole genome sequencing, have greatly affected our understanding of genetic variation underlying rare genetic diseases. Herein, we describe ethical principles of guiding consent and sharing of genomics research data. We also discuss ethical dilemmas in rare diseases research and patient recruitment policies and address bioethical and societal aspects influencing the ethical framework for genetic testing. Moreover, we focus on addressing ethical issues surrounding research in low- and middle-income countries. Overall, this perspective aims to address key aspects and issues for building proper ethical frameworks, when conducting research involving genomics data with a particular emphasis on rare diseases and genetics testing.

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National collaborative study groups: Structure, benefits gained and potential for rare genetic diseases

Genetics in Medicine ◽

10.1097/gim.0b013e31802bd96a ◽

2006 ◽

Vol 8 (12) ◽

pp. 793-796 ◽

Cited By ~ 6

Author(s):

Theodore B Moore ◽

Edward R B McCabe

Keyword(s):

Genetic Diseases ◽

Collaborative Study ◽

Study Groups ◽

Rare Genetic Diseases

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The usage pattern and willingness of undergraduate medical students for including social media platforms as a learning tool in medical education- an online survey

PERSPECTIVES IN MEDICAL RESEARCH - 2 ◽

10.47799/pimr.0801.03 ◽

2020 ◽

Vol 8 (1) ◽

pp. 11-17

Author(s):

Momin Kashif ◽

Mirza Nisar Baig

Keyword(s):

Social Media ◽

Medical Education ◽

Medical Students ◽

Online Survey ◽

Active Participation ◽

First Year ◽

Usage Pattern ◽

Undergraduate Medical Students ◽

Learning Tool ◽

Social Media Platforms

Background: The rapid growth and availability of smartphones and social media platforms (SMP) have changed the medical students' approach to learn and manage the information about their academic, personal and professional lives. Methods: An online survey was done in undergraduate medical students of PIMS, Karimnagar to collect information about usage pattern and perception of SMP, and willingness to participate for using SMP as a learning tool in medical education. Results: Total 433 (Females – 275) out of 600 students participated in the survey from the first year (125), secondyear (151) and third-year (157) MBBS students. Everyone is using some type of SMP. They find SMP nearly equal to lecture materials and subject notes as a useful learning tool and there was significantly increasing trend of perception of SMP being a useful learning tool from the first-year (79%), second-year (83%) to third-year (92%), (p=0.01). Almost 93% want to see SMP used at institute level in medical education. Female students (52.4%) are significantly more willing for active participation than male students (43%), p=0.04. First-year students (56%) are more ready for active participation followed by third (48.4%) and second (43.7%) year students, p=0.08. Conclusion: Most students are willing to include SMP in medical education as a learning tool and ready to participate in different activities if they get the required training. As all students have smartphones and efficiently utilizing different services on their devices, SMP can become an effective learning tool in medical education.

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Not Just a Medical Student: Delivering Medical Education Through a Short Video Series on Social Media (Preprint)

10.2196/preprints.11971 ◽

2018 ◽

Author(s):

Nadine Abbas ◽

Utkarsh Ojha

Keyword(s):

Social Media ◽

Medical Education ◽

Medical Student ◽

Medical Curriculum ◽

Medical Community ◽

Junior Doctors ◽

Leadership Academy ◽

Healthcare Leadership ◽

Short Video ◽

Education Award

UNSTRUCTURED “Not Just a Medical Student” is an innovative bite-size medical education video series founded and hosted on social media. Its primary aim is to inspire tomorrow’s doctors to be creative while engaging and informing them with the latest innovations, technology, and conferences within various specialties. To our knowledge, these themes are scarcely covered in the structured medical curriculum. Created and launched in August 2017, “Not Just a Medical Student” quickly gained traction; with over 1000 followers on Facebook and a rapidly increasing number of views, it reached the medical community across the globe. The video series features a trailblazer in virtual reality surgery and its potential impact on the evolution of medical education, reviewing future medical technology apps, such as Touch Surgery, and reporting on the latest medical education and health apps. The series engaged in topical medico-politics at the British Medical Association House and reported on global health issues and innovations at the Royal Society of Medicine Conference. The video series has further received several national awards including the Association and Study of Medical Education (ASME) Educator Innovator 2017 award, runner up to the Zeshan Qureshi Outstanding Contribution to Medical Education Award, and the Alternative Docs National Social Media Influencer award. The concept has been presented at international conferences (eg, the Healthcare Leadership Academy conference) and gained international recognition upon personal invitation at the Norwegian Annual Junior Doctors Conference. With the rise of the social media generation, innovative methods to inspire, engage, and inform students contributing to the continuous evolution of medical education should be encouraged and further explored.

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