Clinical genetics and heredity

Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes instead of the usual 46. It does not include a difference of one or more complete sets of chromosomes. A cell with any number of complete chromosome sets is called a euploid cell. Submissions are open for the upcoming issue. You may submit case reports, case studies, and research or review papers. Submit to: editor.geneticsandheredity@journalmaples.org Follow our page: https://lnkd.in/dd-AwMD8 Visit us: https://lnkd.in/dhyieEcT (Source: internet) #Aneuploidy #genetics #heredity #chromosomes

Exciting Announcement! The Journal of Clinical Genetics and Heredity has hit a significant milestone, reaching 1k members! 🌟 Gratitude to all contributors and supporters for this achievement. Authors seeking maximum visibility for the manuscripts can submit directly to Clinicalgenetics@journalmapsci.org. Join in advancing clinical genetics and heredity! #ClinicalGenetics #Heredity #ResearchMilestone #JournalAchievement

A pioneering gene editing drug shows promise in treating genetic blindness by precisely targeting and correcting disease-causing mutations. Unlike traditional therapies, this breakthrough offers a potential one-time cure, addressing the root cause of vision loss. While existing treatments manage symptoms, this innovative approach aims for permanent restoration. Challenges like delivery methods and safety are being addressed, heralding a new era in genetic eye disease management. Submissions are open for the upcoming issue. You may submit case reports, case studies, and research or review papers. Submit to: editor.geneticsandheredity@journalmaples.org Follow our page: https://lnkd.in/dd-AwMD8 Visit us: https://lnkd.in/dhyieEcT (Source: internet) #GeneEditing #Ophthalmology #VisionRestoration #Innovation

Arthritis affects millions worldwide, causing pain and challenges in daily life. This week, shine a spotlight on this condition to raise awareness and support those living with arthritis. Arthritis Care Awareness Week is a vital opportunity to learn more about arthritis, its symptoms, and effective management strategies. Let's empower everyone with knowledge to better navigate this condition by spreading awareness, promoting early detection, and fostering a supportive community. #ArthritisCareAwarenessWeek #ArthritisAwareness #HealthAwareness #SupportCommunity

Advancing the Future of Medicine by Getting Back to its Genetic Roots In the quest for medical advancement, returning to the genetic roots is paramount. Genomics, personalized medicine, and gene therapies offer transformative potential. By understanding individual genetic makeup, researchers tailor treatments, optimize drug efficacy, and minimize adverse reactions. CRISPR technology heralds breakthroughs in gene editing, offering hope for genetic disorders. Moreover, genetic insights enable preventive measures, forecasting predispositions, and empowering proactive healthcare. Embracing genetics unlocks a new era of precision medicine, promising better outcomes and improved quality of life. Access to new genetic target insights and multiple technologies, all in one place, means researcher can apply the best approaches for each disease area: more targets combined with more technologies means more meaningful new therapies. #Genomics #PrecisionMedicine #GeneTherapy

Alzheimer's disease has long been a topic of intense study, with researchers seeking to uncover its underlying causes. Recent findings suggest that genetics may play a more direct role in the development of the disease than previously thought. While it's known that genetic mutations like APP, PSEN1, and PSEN2 are linked to early-onset familial Alzheimer's, emerging research is shedding light on a broader range of genetic factors involved in both early-onset and late-onset Alzheimer's. The APOE ε4 allele, a well-established risk factor, is gaining attention, along with new genes identified through advanced genome-wide association studies (GWAS). These findings are opening doors to improved diagnostic methods, targeted treatments, and personalized prevention strategies. #AlzheimersDisease #Genetics #Healthcare #Research #BrainHealth

May is recognized as Huntington's Disease Awareness Month, a time to increase awareness about Huntington's disease (HD), a progressive neurodegenerative condition that affects muscle coordination, cognitive functions, and behavior.  Caregiving for someone with HD can be challenging. Awareness Month is also an opportunity to recognize and support the families and caregivers who play a critical role in managing the disease. Consider sharing resources and offering emotional support to those caring for loved ones with HD. #HuntingtonsDisease #HDawareness #HuntingtonsAwareness #hereditarydisorder #HDAwarenessMonth #CureHD

Arthritis Awareness Month is observed in May to raise awareness about arthritis and related conditions. Arthritis encompasses a range of disorders that cause inflammation, pain, and stiffness in the joints, and it can affect people of all ages, genders, and backgrounds. Activities during Arthritis Awareness Month often include educational events, fundraising for research and support, and community engagement to foster a better understanding of arthritis and its impact on people's lives. #ArthritisAwareness #ArthritisAwarenessMonth #Arthritis #ArthritisSupport #JointHealth #FightArthritis #ArthritisEducation #RheumatoidArthritis #Osteoarthritis

Telomeres are the protective caps at the ends of the chromosomes, safeguarding the DNA during cell division. Each time a cell divides, these telomeres shorten-a process linked to aging and cell death. But here's the twist: some cells, especially cancer cells, activate telomerase, an enzyme that extends telomeres, enabling unlimited growth. This unique feature has opened doors to innovative research, exploring telomere biology for age-related health and potential cancer therapies. Understanding telomeres could lead to breakthroughs in longevity and new cancer treatments. The journey to uncover the secrets continues to be an exciting frontier in genomics and biomedicine. Submissions are open for the upcoming issue. You may submit case reports, case studies, and research or review papers. Submit to: editor.geneticsandheredity@journalmaples.org Follow our page: https://lnkd.in/dd-AwMD8 Visit us: https://lnkd.in/dhyieEcT (Source: internet) #Biotechnology #Healthcare #Genomics #Research

Exploring human genetics opens doors to understanding the intricate makeup of life itself. By decoding DNA, a person can gain insights into disease risks, genetic disorders, and even lineage. It's a vital tool in healthcare, aiding in personalized treatments and uncovering familial connections. With technology advancing at a rapid pace, human genetics is ripe for innovation. As scientist decipher more genetic codes, the potential for groundbreaking discoveries in medicine and beyond is immense. Curious about the future of this field? The Global Human Genetics Market is poised for significant growth, driving advancements that could reshape healthcare and deepen the understanding of human history. Exciting times lie ahead! Let's delve deeper into genetics and unveil the mysteries encoded in the DNA. 🧬 #HumanGenetics #GeneticResearch #DNA #Genomics #HealthcareInnovation #MedicalBreakthroughs #Genealogy #GeneticDisorders #GlobalGenetics #PersonalizedMedicine #MedicalTechnology #HealthcareTrends #FutureOfMedicine #GeneticInsights #HealthcareScience