Join us at our MarketsandMarkets 5th Annual Orphan Drugs and Rare Diseases Conference in Germany, Europe, for a groundbreaking exploration of the recent advances in developing life-saving therapies, technologies in diagnosing, and strategies to enhance orphan drug development.\n\nEnquire Now @ https

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Genetic testing plays a crucial role in identifying inherited kidney diseases, with around 15% of CKD cases having monogenic causes. Despite a high percentage of patients reporting a family history of CKD, Mendelian causes only account for about 10% of adult ESRD cases. Understanding the genetic bas

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FRIB (Facility for Rare Isotope Beams) is supported by the U.S. Department of Energy and Michigan State University. It utilizes advanced techniques for rare isotope beam formation, offering insights into nuclear physics. The facility operates with high beam power, serving various scientific experime

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Join us at our MarketsandMarkets Orphan Drugs and Rare Diseases Conference in Boston, USA for a groundbreaking exploration of the recent advances in developing life-saving therapies, technologies in diagnosing, and strategies to enhance orphan drug development.\n\nRegister Now @ \/\/events.marketsan

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Human genetic disorders encompass a range of conditions, from recessive disorders like cystic fibrosis to dominant disorders such as Huntington's disease. Examples include cystic fibrosis, Huntington's disease, and sickle-cell anemia. Understanding genetic disorders involves research and awareness o

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Novo Nordisk shares remained stable on Thursday, despite a critical report from Harvard Medical School linking the company\u2019s weight loss drugs to a rare eye condition

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A Chicago physician, Dr. James Herrick, encountered a mysterious blood disorder in a West Indies student back in 1904. This condition, characterized by fatigue, joint pain, yellowish eyes, and an affected family history, poses a genetic inheritance puzzle. Investigations into Mendelian inheritance p

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Genetic engineering involves altering the genetic material of organisms to achieve desirable traits. This process entails cutting out specific genes from one organism and transferring them to another. In medicine, genetic engineering finds applications in gene therapy, hormone production, and vaccin

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Genetic markers play a crucial role in gene mapping within molecular biotechnology. They are fragments of DNA associated with specific genomic locations, aiding in identifying DNA sequences and analyzing genetic variation. Various types of genetic markers such as RFLP, SSR, and SNP offer insights in

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Genetic mutations can be harmless, harmful, or beneficial, leading to variations within a species. Examples of gene mutations and chromosomal aberrations, like Trisomy 21, illustrate genetic abnormalities. The increase in Down Syndrome cases with maternal age highlights a maternal age effect. Geneti

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Delve into the world of genetic engineering, where organisms' genetic makeup is altered for various purposes. Discover the process of modification, the history of genetic manipulation, and the impact of genetically modified organisms on society and science.

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Efforts to enhance the productivity of natural isolates for commercial products involve genetic modifications through mutation, genetic recombination, and genetic engineering techniques. Desired characteristics include genetic stability, efficient production, versatility in carbon sources, and ease

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The diagnosis and differential diagnosis of Type 1 and Type 2 diabetes are discussed, detailing the clinical courses, age of onset, body weight characteristics, onset patterns, and genetic factors. The etiologic classification of diabetes including insulin-deficient, immune-mediated, monogenic, and

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Plant improvement has evolved through different eras - from ancient domestication to the Green Revolution and genetic modification. Domestication shaped major crops over millennia, the Green Revolution introduced high-yielding varieties, and genetic modification allows direct genetic alterations for

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WAGR syndrome is a rare genetic condition associated with Wilms Tumor, aniridia, and developmental delays. Wilms Tumor is a form of kidney cancer mostly affecting children and is linked to genetic disorders like WAGR syndrome. The risk of Wilms Tumor is higher in children with WAGR syndrome, with po

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Comprehensive updates on European training requirements for rare diseases, rare adult solid cancers, and neuroendocrine neoplasia medicine. Initiatives include syllabi, competencies, and collaborations with international networks for advancements in the field.

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Genetic manipulation strategies in environmental biotechnology involve techniques like gene splicing and molecular cloning to modify genes directly. These methods have various applications such as isolating genes, producing specific molecules, improving biochemical production, creating organisms wit

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Rare diseases in Ghana present significant challenges such as lack of awareness, insufficient data, delayed diagnosis, and limited treatment options. To address these issues, collaborative efforts involving multiple stakeholders are essential. Actions are needed to enhance health education, improve

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Transformation in molecular biology is a process where genetic material is altered by the uptake of exogenous DNA. It involves the direct incorporation of genetic material into a cell, leading to genetic changes. This phenomenon was first demonstrated by Frederick Griffith in 1928. The process of tr

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Genetic counselors play vital roles in healthcare by assisting patients with genetic conditions, advocating for their needs, educating providers, conducting research, and influencing public policy. The National Society of Genetic Counselors (NSGC) supports genetic counselors in their professional en

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The EveryLife Foundation for Rare Diseases held an introductory webinar providing insights into their mission, foundation overview, staff members, board composition, and initiatives like advocating for biotechnology innovation and rare disease treatments through policy and law changes. The foundatio

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Explore the intricacies of branching statements, if-else statements, condition codes, explicit compare and branch, implicit condition codes, and the use of condition registers in computer architecture. Delve into MIPS architecture's utilization of both implicit and condition registers for efficient

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Explore the world of genetic carrier screening offered by GENDIA in Antwerp, Belgium. Learn about prenatal screening for various genetic disorders, including Down syndrome and severe monogenic disorders. Discover the frequency of common recessive disorders and the severity of genetic diseases. Uncov

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Learn about expanded carrier screening as a tool for identifying genetic risks in family planning scenarios. Understand the importance of genetic testing, considerations for non-consanguineous couples like Julie and Chris, and the evolving landscape of genetic services. Explore key aspects such as f

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Genetic screening and reproductive carrier testing play crucial roles in identifying and managing genetic disorders in couples planning for pregnancy. While carrier screening is recommended for all couples, it is not widely followed in New Zealand. Pre-conceptual reproductive carrier screening is no

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Explore real-life scenarios of individuals opting for Direct-to-Consumer Genetic Testing (DTC-GT) to assess genetic risk for various health conditions. Consider the implications, limitations, and cautions associated with DTC-GT, highlighting the importance of comprehensive evaluation and genetic cou

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Genetic disorders are caused by abnormalities in genes or chromosomes, leading to various health conditions. Inherited disorders can be passed down from parents to children, affecting physical makeup and processes in the body. In India, there is a high prevalence of genetic disorders, particularly i

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Genetic material plays a crucial role in the transmission of traits from one generation to the next. This article explores the significance of DNA and RNA as genetic material, highlighting key experiments and discoveries that demonstrate DNA's role in carrying hereditary information. From Mendel's h

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Forest management for multiple values involves producing timber, providing recreation, protecting watersheds, and perpetuating rare species. Covering over 11,000 acres with a diverse ecosystem, the area includes oak woodlands, savannas, and prairies. With a shift towards conserving rare features and

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The Nagoya Protocol aims to promote fair sharing of benefits from genetic resources utilization for conservation efforts. It encompasses access, technology transfer, funding, and respect for rights over resources and technologies. The protocol applies to genetic resources, traditional knowledge, and

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Epistasis is a phenomenon where the phenotypic expression of one gene is influenced by interactions with another gene. This concept, first introduced in 1909, plays a crucial role in genetics, affecting various traits and evolutionary processes. The difference between dominance and epistasis lies in

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Explore the world of evolutionary computation and genetic algorithms through a presentation outlining the concepts of genetic algorithms, parallel genetic algorithms, genetic programming, evolution strategies, classifier systems, and evolution programming. Delve into scenarios in the forest where gi

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A 35-year-old male presented with bilateral inguinal swelling and pain, revealing a rare case of synchronous bilateral intratubular germ cell neoplasm in bilateral undescended testes (cryptorchidism) in an adult. The pre-operative diagnosis was challenging due to the atypical tumor presentation. Ris

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Japan faces challenges in securing critical minerals for sustainable industrial activities due to market failures in rare metals trade, lack of information symmetry in supply chains, and the small market size of rare metals. The Government of Japan implements policy measures such as overseas resourc

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This presentation highlights the objectives, thematic priorities, and actions of the RD-ACTION project funded by the European Union's Health Programme. It focuses on supporting the Orphanet database, promoting multi-stakeholder debates on rare diseases, and enhancing data sharing and healthcare path

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Thang Luong and team addressed the rare word problem in Neural Machine Translation by proposing an approach to track the origins of rare words in target sentences. They utilized unsupervised alignments and relative indices in the training data and implemented a post-processing method for test transl

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This comprehensive content delves into the strategic planning of clinical trials for rare diseases, emphasizing the utilization of historical control data and the challenges associated with it. It discusses the significance of historical control in trial design, the evolving landscape of rare diseas

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This article discusses methods for improving word representation for rare words, such as the count-based Skip-gram by Mikolov and the predict-based GloVe by Pennington. It explores the concepts of Skip-gram, GloVe, and issues faced by existing models in handling rare words.

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This content delves into the proposed HL7 V2 genetics message, NLM forms builder, UCUM validator, and the current state of genetic testing codes in LOINC. It discusses the types of molecular genetic tests present in LOINC and the evolution towards newer genetic tests. The content also covers how LOI

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GWAS, or Genome-Wide Association Studies, are a method used to map genes associated with traits or diseases by analyzing genetic markers throughout the genome. This process involves statistically testing the association between SNPs and traits using regression or chi-squared tests in a hypothesis-fr

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