Dr Danial Roshandel of the Lions Eye Institute is leading a novel research initiative for a rare genetic eye disorder. This pioneering work has the potential to make a significant impact.
Stay informed about Dr Roshandel's remarkable work addressing the corneal issues caused by congenital aniridia https://ow.ly/ceIK50SuiR2
In The FASEB Journal: New research highlights the vital contribution of Xbp1 to odontoblastic differentiation by regulating mitochondrial balance, providing insights into potential therapies for mitochondrial disorders stemming from genetic anomalies. Read more in The FASEB Journal: https://hubs.ly/Q02sKbVD0
Have you ever wondered about how ultrasound can detect chromosomal and genetic abnormalities🤔? Let's dive into this topic together and gain information about this. See the thread below and join the discussion!👇🏻
In this talk, I will discuss the historical perspective as well as potential opportunities and limitations of self-reported race/ethnicity and genetic ancestry in biomedical research. I will emphasize the key points discussed in the recent @theNASEM report and give our own asthma study as an example. @DrTMersha
Over the past decade, studies have shown that chronic stress can induce genome-wide epigenetic changes and affect the distribution of molecules in the brain. What’s more, maternal genetic changes that result from high cortisol exposure may even be passed down to future generations. Read more about the epigenetic effects of stress here: https://hubs.la/Q02dCSnQ0
Join me tomorrow for Ambry Genetics’ EducateNext to learn about inherited ataxias.
This webinar examines the inherited ataxias, specifically their clinical, genetic, and psychosocial features. We'll explore cerebellar anatomy down to the root causes of ataxia, specific syndromes that have ataxia as a primary feature, and updates in diagnosis, research, and treatment.
#Learning opportunity: This is a very niche and interesting topic for those interested in Neurogenetics and Neuromuscular disorders.
Genetic Ataxias: Clinical Overview, Research, and the Future of Diagnosis and Treatment with Victoria Suslovitch, MS, CGC!
Chromosomal Microarray Analysis (CMA) identifies chromosomal deletions and duplications in the genome.
Baylor Genetics’ CMA can help identify a diagnosis in individuals with multiple anomalies that are not specific to well-delineated genetic syndromes, such as non-syndromic developmental delay, intellectual disability, or autism spectrum disorders as recommended by the American College of Medical Genetics and Genomics.
For more details and to start a test order: https://bit.ly/3ZEvXRW
Read our blog to learn more about CMA: https://bit.ly/3NfY5GA#ThinkBG#BGreat#Cytogenetics#GeneticTesting
Aging research expert Nir Barzilai has collaborated with six other experts to co-author a research article recently published in Aging Cell.
The research uncovers a unique humanin variant, P3S, enriched in centenarians with the APOE4 allele, demonstrating its potential role in mitigating amyloid beta pathology and enhancing phagocytosis in APOE4-linked amyloidosis, highlighting its significance in longevity and cognitive health among carriers.
To learn more - https://lnkd.in/ecJkyscY
Seven AFAR Experts – Gil Atzmon, PhD; Nir Barzilai, MD; Pinchas Cohen, MD; Su Jeong Kim, PhD; Hiroshi Kumagai, PhD; Patrick Sullivan, PhD, and Kelvin Yen, PhD – co-authored research recently published in Aging Cell on a genetic mutation that could promote longevity and protect those predisposed to #Alzheimer’s. https://ow.ly/IfB550R6Xln#healthspan#longevity#cognitivehealth
Spring Refresh! 🌷 We have updated all our familial hypercholesterolemia resources for primary care practitioners! ❤️ With the oversight of international expert, Dr. Robert Hegele. 🎇 Learn about updates to genetic testing in Canada 👨💻. Refresh your knowledge about this common hereditary condition. Share with your colleagues both within Genetics and your referring clinicians 🔁 . Let us know what you think! 🌷
www.geneticseducation.ca > Resources for clinicians > Cardiogenomics
Pediatric Neurology is a monthly journal that provides essential information to child neurologists and others who care for children with neurological disease.
Study on 37 patients with congenital myasthenic syndromes highlights the need for genetic diagnosis for effective treatment.
- Belgium prevalence: 3.19 per 1M.
- Treatment depends on genetic defect.
- Normal electrophysiology doesn't rule out CMS.
https://lnkd.in/dR23NB8i
I'm delighted to share with you my latest review on the role of O-GlcNAcylation in epigenetics and more specifically on histones. This is just the beginning Benjamin Lauzier & Serge McGraw !!
Founder | Biomed Engineer | Data Scientist
1moGreat to see Danial Roshandel, MD, PhD!! Please keep the great work going!