International Parkinson and Movement Disorder Society’s Post

Our recent publication reports on perceptions towards prenatal, newborn and premarital/preconception genetic testing for sickle cell disease.The results show a general preference for newborn screening; the complex cultural, ethical, religious and social dynamics surrounding genetic testing for SCD  and sickle cell trait (SCT); the need for public education for SCD and the necessity of incorporating genetic and psychosocial counseling into SCD/SCT testing programs. Full article: https://lnkd.in/eY73-6YQ. #sicklecelldisease ; #genetictesting. Kengne Kamga Karen; Marsha Treadwell, Jemima Araba Dennis-Antwi, Daima Bukini, Julie Makani, Ambroise Wonkam, MD, PhD. European Journal of Human Genetics

Human Genetic Variation Study https://lnkd.in/gbKAV9gJ A Stanford University team is conducting a study to learn about the role of genetic variation between human sperm and somatic (body) cells where the basis is currently unknown. A more complete understanding of genetic variation may drive the development of better diagnostic, prognostic, or therapeutic options for patients with fertility issues. Stanford University, Stanford Genetics, Stanford University School of Medicine, Snyderlab Stanford, Stanford Snyder Lab #stanfordmedicine #genetics #Snyderlab #stanford #geneticvariation #spermresearch #fertilityresearch #research #health #body #healthcare

"Yes, genetics play a role, but candidiasis is a complex, multi-systemic condition! The foundation for our body’s susceptibility to candidiasis often depends on our genetic inheritance—the complement of genes we receive from our biological parents. Our genes are the tiny “blueprints” that enable us to have our inherent bodily strengths—our ability to function effectively and our body’s capacity to adapt to unfavorable circumstances. Yet, heredity has a downside because people also inherit genetic weaknesses, predisposing them to develop certain symptoms, diseases, and illnesses. In addition, a multitude of risk factors, some worse than others, plays a significant role in promoting candidiasis, and the greater the exposure, the higher the chance for illness. Hopefully, you are beginning to realize candidiasis is far from being a black-or-white, all-or-nothing condition. Since mainstream physicians are taught to classify and define illness, they have a major problem understanding this point. Regardless of mainstream medicine’s doubts and disbelief, candidiasis is real. Yes, its diversity and variability can be understood. In fact, it is essential to understand the intricacies of candidiasis to effectively treat it. This is done to avoid mistakes as well as achieve the quickest and best results. Even though it may seem confusing at first, when the pieces of the “candidiasis puzzle” are aligned and assembled, this medical malady is easier to appreciate, diagnose, and treat." - by Dr. Marc Bielski for Little Spirit Books #candida #candidiasis #microbiome #holistichealth #integrativemedicine

An inspiring article on Carola Vinuesa highlights her impactful work at the intersection of genetics and social justice. Her efforts are instrumental in helping to free wrongly convicted parents. Vinuesa's research not only advances our understanding of genetics but also demonstrates how scientific expertise can impact real-world issues. Worth a read to understand how interdisciplinary work can drive meaningful changes. #genetics #socialjustice #scienceandlaw https://lnkd.in/dnbxt5uZ

Rare Disease Day: read Tiff's story about taking part in genetics research to help people with conditions like her https://lnkd.in/e53AsQ6V Learn more about taking part in research and search for studies at https://lnkd.in/dfYFj7hR

Looking forward to hosting the Rare Disease-Themed Genethics Forum on October 1st in Manchester! If you are a healthcare professional interested in discussing the ethico-legal issues arising in genetic medicine, don't miss out - contact [email protected] to register your place! #rarediseaseresearch #GeneticMedicine #HealthcareEthics #MedicalEthics #GenethicsForum

Scoliosis is a condition caused by lateral curvature of the spine, causing a misalignment in the body. It is predominantly diagnosed during puberty and affects 2-3% of the world’s population. Adolescent Idiopathic Scoliosis (AIS) is the most common type, with the exact cause unknown. Genetic mutations and the presence of neurological and muscular conditions may be some reasons that increase a person’s risk of developing scoliosis. According to research, scoliosis has an autosomal dominant inheritance pattern (passed in families). Read on to know more - https://qr.ae/pKoZ1e OR https://lnkd.in/g_5uQbVv. #scoliosis #spine #misalignment #lateralcurvature #puberty #adolescentidiopathicscoliosis #AIS #geneticmutations #neurological #muscular #autosomaldominant #inheritance #families #CHD7gene #SH2B1gene #ESRgene #FBN1gene #FBN2gene #CALM1gene #LBX1gene #MATN1gene #CHL1gene #xcode #xcodelife #genetics #genetest #genetictesting #genetictest #genomics #genome #geneticmakeup #geneticlink #geneticcounseling #genetictraits #genes #DNA #DNAtest #DNAtesting #genesandhealth #DNAandhealth #nutrition #research #study #findings #health #wellness #didyouknow #mondaythoughts #mondaymotivation #beatthemondayblues #beattheblues #dailypost #dailytips #dailyupdates #everydaylearning

Sharing a very rare case of skeletal dysplasia we came across. A 24 year old primigravida presented to us at 23 weeks with single fetus showing short long bones, spinal deformity, club feet and polyhydramnios. On detailed ultrasound a camptomelic micromelic skeletal dysplasia was suspected. Amniocentesis revealed sparsely reported Silverman Handmaker Dyssegmental Dysplasia. There exist around 400 distinct types of skeletal dysplasias, with this list continuously expanding due to advancements in ultrasound diagnostics and genetics. The nosology and classification of these genetic disorders remain subjects of ongoing research and development. #fetalmedicine #amniocentesis #fetaldiagnosis #skeletaldysplasia #genetics

Article:  Through the Tunnel of Genetics - Unraveling the Complexity of Retinitis Pigmentosa Introduction:  Retinitis Pigmentosa, abbreviated as RP from right here on, is an ocular condition that affects individuals of all ages. Usually, it begins with dark-sky blindness, which causes the angle of visibility to constrict to merely a single line of sight. It is similar to looking out of an elevator or trench at the expanse of space. Time blurs the view, and existence becomes difficult. Ultimately, the illness progresses to disability.... https://lnkd.in/dmXk8fAQ

#SpeakingofScience: This #DNADay, let's talk about the current inequity of #geneticscreening, particularly impacting non-white families. This study, published in Genetics in Medicine Open, reveals disparities in the accuracy of advanced #genetic tests for metabolic diseases in newborns, calling attention to historical gaps in #DNAresearch. This data is a stark reminder of the urgent need to address #diversity gaps in #medicalresearch to ensure equitable #healthcare access for all 🔬🌟 #DNA #healthequity #equalacess #diversityinhealthcare #inclusivityinhealthcare #healthcareacess https://lnkd.in/eyxZzg3Q