Federation of American Societies for Experimental Biology (FASEB)’s Post

Desperate for answers and a solution to his health issues, Craig discovered clinical research and trials, leading him to undergo genetic testing with Invitae. This genetic test finally revealed his diagnosis of ADH1, a rare genetic condition related to hypoparathyroidism, which can cause chronically low levels of calcium in the blood and high levels of calcium in the urine. Let's bring awareness to the value of genetic testing, clinical trials, research, and accurate diagnoses for #WorldThyroidDay. 🧬🌍 #BehindTheMystery #ADH1 #ADH1Awareness #Hypoparathyroidism #RareDisease #RareDiseaseAwareness

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

From MBoC Genetic inactivation of essential HSF1 reveals an isolated transcriptional stress response selectively induced by protein misfolding Cells counteract stress by inducing adaptive transcriptional programs. Ciccarelli et al. show that the transcription factor Hsf1 in yeast is solely responsible for driving a highly selective transcriptional stress response triggered by protein misfolding. https://lnkd.in/gkm4zMyh

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!👇🏻

🔗 "Beta thalassaemia: First gene-editing therapy could cure disorder - BBC" 🔗 Exciting news from the medical world! A groundbreaking gene-editing therapy for beta thalassaemia is making headlines. This cutting-edge treatment could be the key to curing this genetic blood disorder. Read all about it in this insightful BBC article. Let's celebrate the strides in medical science and the hope it brings to those affected by this condition. Click the link to learn more. #GeneEditing #MedicalBreakthrough #HopeforPatients https://ift.tt/vyUi5Ch

Osteogenesis Imperfecta is a #rare #geneticdisorder which presents with recurrent fractures. Currently, there are 18 genes that can cause OI. Early genetic tests can help in diagnosing the type of OI and direct towards better management. Timely diagnosis using clinical evaluation and #genetictesting can help doctors and families take steps to improve the quality of life. #NeubergDiagnostics #NCGM #Genetictesting #wishboneday #OI #OsteogenesisImperfecta

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

What is epigenetics? Epigenetics is a broad term for the control panel for our genes. It involves changes to our DNA that do not alter the genetic code itself but can influence how DNA will be used in the cell. These instructions can be influenced by various factors, such as our environment, lifestyle, and even experiences. Epigenetics does not only affect DNA, but also structures wrapped around our DNA, so-called histones. It is a very complex process. Epigenetic changes can impact our health by affecting how our genes function, not only influencing our risk for certain diseases but also influencing the effect of different drugs on our bodies. In the OmiCrohn trial we will use patients’ individual epigenetic “blueprint” in DNA to predict the effect of different therapeutic options. #METHYLOMIC #epigenetics #HORIZONEU #Crohns #RA #psoriasis #targetinghope

The lack of response from male praying mantids during sexual cannibalism has been argued as potential evidence that insects lack pain perception and sentience. To understand if the claim holds ground, researchers evaluated whether mantids have genes that perceive injuries. The authors sequenced and assembled the genome of Chinese mantid, and the results show they have the genes necessary for to feel pain (6 out of 7 gene categories known to be associated with nociception). For additional information, read the full paper: https://bit.ly/4dgosqB

Why might your oncologist resist ordering genetic testing for you? Find out in this short clip from our interview with one of the leading minds in Precision Medicine today, Dr. Razelle Kurzrock: https://buff.ly/3FIEyZW #GeneticTesting #PrecisionCancerMedicine