Complex diseases
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This document discusses factors that affect gene expression and cause human diseases. It states that most chronic non-communicable diseases are caused by an interaction of both genetic and environmental factors. Diseases caused by multiple genetic and environmental factors together are called multifactorial disorders. Common diseases like diabetes, asthma and heart disease are examples of complex, multifactorial diseases determined by many genes with small additive effects and environmental influences.
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Coronary Heart Disease
This document provides an overview of coronary heart disease (CHD) genetics and risk factors. It discusses that CHD is usually multifactorial, caused by an interaction of multiple genetic and environmental risk factors. While some monogenic forms exist, like familial hypercholesterolemia, most CHD has a polygenic basis where numerous gene variants each contribute small increases in risk. A strong family history of early-onset CHD is an important risk factor, with risk increasing based on the number and closeness of affected relatives. Genetic testing currently has limited clinical utility for predicting CHD risk compared to family history assessment.
Complex Diseases
This document discusses factors that affect gene expression and cause human diseases. It states that most chronic non-communicable diseases are caused by an interaction of both genetic and environmental factors. Diseases caused by multiple genes and environmental factors together are called multifactorial disorders. Common diseases like diabetes, asthma and heart disease are complex and multifactorial rather than Mendelian. Both genes and environment contribute to diseases like schizophrenia.
Genomics' prez 1
Consanguineous marriages can increase susceptibility to infectious diseases like tuberculosis and hepatitis B. A study found strong associations between consanguinity and susceptibility to TB and hepatitis B in West African populations with high rates of cousin marriages. However, there was no significant association found for hepatitis B in Italians, who have low cousin marriage rates, or for leprosy in Indians. The level of inbreeding appears to influence susceptibility, as first-cousin marriages were necessary to account for observed susceptibility levels in Gambia. Managing consanguinity risks requires social awareness programs, population genetic screening, youth counseling, and warning those at high risk.
Inbreeding and congenital heart disease
This document discusses the relationship between consanguinity (marriage between close biological relatives) and congenital heart disease (CHD). It makes several key points:
1) Consanguineous unions increase the risk of recessive diseases like CHD being expressed. Several studies found associations between consanguinity and more severe forms of CHD.
2) However, determining the exact genetic contribution is difficult since other factors like environment, epigenetics, and sociodemographics also influence CHD risk.
3) Around 10% of the world's population engages in consanguineous marriages, particularly in parts of Asia, Africa, and migrant communities from those regions. First cousin marriages are most common
Consanguineous marriage makes congenital heart diseases more complex
Introduction: Inbreeding increases homozygotes for autosomal recessive disorders resulting in high prevalence of congenital heart disease (CHD). This cross-section looks whether consanguineous marriage (CM) makes CHDs more complex.
Subjects and Methods: This was an observational study which looked at the cross-section of a cohort of consecutive 113 patients having different CHD who visited Nizam Institute of Medical Sciences, Andhra Pradesh, during the year 2016 for surgery or intervention. The definitive diagnosis of CHD was supported by clinical profile, chest X-ray, echo, ultrasound abdomen, and cardiac catheterization which is appropriate. The study population was divided into CM group and distance marriage (DM) group. The categorical variables were analyzed using descriptive statistics.
Results: Out of 113 patients with CHD, 61 (54%) were females. A majority 104 (94%) were Hindu. About 74% of patients were from below poverty line category. Approximately 27% and 73% patients were born out of consanguineous and DM, respectively. Most of the patients were from a rural background, and 63.7% had an education level of ≤10th class. Approximately, a total of 50 (44.2%) patients had complex CHDs (CCHDs). CCHD had significant association with CM (odds ratio: 2.60 95% confidence interval: 1.11–6.09, and P = 0.02).
Conclusion: As there was a significant association of CCHD with inbreed marriage, this observation discourages CM.
Reasons and deleterious effects of consanguinity in Pakistan
This document discusses the reasons for and harmful effects of consanguineous (cousin) marriages in Pakistan. It reviews previous literature that identified reasons such as inheritance of property, dowry amounts, compatibility between spouses, and strengthening family ties. The author's survey found inheritance, caste, and family ties to be the top reasons. Consanguinity increases risks of genetic disorders like thalassemia, childhood blindness, and birth defects. It can also lead to family disputes breaking social ties. While religion was once a reason, education is changing views on whether Islam requires cousin marriages.
Awareness campaign on Cousin marriage
1. The document presents an advocacy campaign on the genetic side effects of cousin marriage in Pakistan.
2. It was presented by [no presenters given] on [no date given].
3. The campaign aims to raise awareness of issues like increased infant mortality and birth defects resulting from cousin marriages and discourage this practice in Pakistan by educating youth and parents.
Consanguinous marriage
This document discusses consanguineous marriages, which are defined as unions between individuals related as second cousins or closer. There are various reasons why some communities prefer consanguineous marriages, such as strengthening family ties and making financial negotiations easier. Factors like higher education rates, age at marriage, and economic status can decrease consanguineous marriage rates. While effects are mixed, studies have shown associations between parental consanguinity and increased risks of infant mortality, congenital heart defects, and some genetic disorders. Genetic counseling can help families at risk of inherited disorders understand risks and family planning options.
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Coronary Heart Disease
This document provides an overview of coronary heart disease (CHD) genetics and risk factors. It discusses that CHD is usually multifactorial, caused by an interaction of multiple genetic and environmental risk factors. While some monogenic forms exist, like familial hypercholesterolemia, most CHD has a polygenic basis where numerous gene variants each contribute small increases in risk. A strong family history of early-onset CHD is an important risk factor, with risk increasing based on the number and closeness of affected relatives. Genetic testing currently has limited clinical utility for predicting CHD risk compared to family history assessment.
Complex Diseases
This document discusses factors that affect gene expression and cause human diseases. It states that most chronic non-communicable diseases are caused by an interaction of both genetic and environmental factors. Diseases caused by multiple genes and environmental factors together are called multifactorial disorders. Common diseases like diabetes, asthma and heart disease are complex and multifactorial rather than Mendelian. Both genes and environment contribute to diseases like schizophrenia.
Genomics' prez 1
Consanguineous marriages can increase susceptibility to infectious diseases like tuberculosis and hepatitis B. A study found strong associations between consanguinity and susceptibility to TB and hepatitis B in West African populations with high rates of cousin marriages. However, there was no significant association found for hepatitis B in Italians, who have low cousin marriage rates, or for leprosy in Indians. The level of inbreeding appears to influence susceptibility, as first-cousin marriages were necessary to account for observed susceptibility levels in Gambia. Managing consanguinity risks requires social awareness programs, population genetic screening, youth counseling, and warning those at high risk.
Inbreeding and congenital heart disease
This document discusses the relationship between consanguinity (marriage between close biological relatives) and congenital heart disease (CHD). It makes several key points:
1) Consanguineous unions increase the risk of recessive diseases like CHD being expressed. Several studies found associations between consanguinity and more severe forms of CHD.
2) However, determining the exact genetic contribution is difficult since other factors like environment, epigenetics, and sociodemographics also influence CHD risk.
3) Around 10% of the world's population engages in consanguineous marriages, particularly in parts of Asia, Africa, and migrant communities from those regions. First cousin marriages are most common
Consanguineous marriage makes congenital heart diseases more complex
Introduction: Inbreeding increases homozygotes for autosomal recessive disorders resulting in high prevalence of congenital heart disease (CHD). This cross-section looks whether consanguineous marriage (CM) makes CHDs more complex.
Subjects and Methods: This was an observational study which looked at the cross-section of a cohort of consecutive 113 patients having different CHD who visited Nizam Institute of Medical Sciences, Andhra Pradesh, during the year 2016 for surgery or intervention. The definitive diagnosis of CHD was supported by clinical profile, chest X-ray, echo, ultrasound abdomen, and cardiac catheterization which is appropriate. The study population was divided into CM group and distance marriage (DM) group. The categorical variables were analyzed using descriptive statistics.
Results: Out of 113 patients with CHD, 61 (54%) were females. A majority 104 (94%) were Hindu. About 74% of patients were from below poverty line category. Approximately 27% and 73% patients were born out of consanguineous and DM, respectively. Most of the patients were from a rural background, and 63.7% had an education level of ≤10th class. Approximately, a total of 50 (44.2%) patients had complex CHDs (CCHDs). CCHD had significant association with CM (odds ratio: 2.60 95% confidence interval: 1.11–6.09, and P = 0.02).
Conclusion: As there was a significant association of CCHD with inbreed marriage, this observation discourages CM.
Reasons and deleterious effects of consanguinity in Pakistan
This document discusses the reasons for and harmful effects of consanguineous (cousin) marriages in Pakistan. It reviews previous literature that identified reasons such as inheritance of property, dowry amounts, compatibility between spouses, and strengthening family ties. The author's survey found inheritance, caste, and family ties to be the top reasons. Consanguinity increases risks of genetic disorders like thalassemia, childhood blindness, and birth defects. It can also lead to family disputes breaking social ties. While religion was once a reason, education is changing views on whether Islam requires cousin marriages.
Awareness campaign on Cousin marriage
1. The document presents an advocacy campaign on the genetic side effects of cousin marriage in Pakistan.
2. It was presented by [no presenters given] on [no date given].
3. The campaign aims to raise awareness of issues like increased infant mortality and birth defects resulting from cousin marriages and discourage this practice in Pakistan by educating youth and parents.
Consanguinous marriage
This document discusses consanguineous marriages, which are defined as unions between individuals related as second cousins or closer. There are various reasons why some communities prefer consanguineous marriages, such as strengthening family ties and making financial negotiations easier. Factors like higher education rates, age at marriage, and economic status can decrease consanguineous marriage rates. While effects are mixed, studies have shown associations between parental consanguinity and increased risks of infant mortality, congenital heart defects, and some genetic disorders. Genetic counseling can help families at risk of inherited disorders understand risks and family planning options.
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Asperger syndrome is a subtype of autism characterized by lack of eye contact, inability to understand social cues, obsession with unusual topics, and awkward movements. It is caused by changes in the brain that may be genetic or environmental. Boys are more likely to be affected than girls. Treatment includes social skills training, speech therapy, and other therapies, as about 1 in 68 children are estimated to have an autism spectrum disorder, with Asperger's accounting for 75% of cases.
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Genetic disorders can be caused by abnormalities in a single gene or multiple genes, and may be inherited from parents or occur spontaneously. They range from very rare to more common conditions. The inheritance pattern (autosomal dominant, recessive, X-linked, mitochondrial) determines who is at risk of passing on the disorder. While some disorders cause death or disability, others only affect specific traits; treatment focuses on managing symptoms rather than curing the underlying genetic cause.
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This document discusses gene-environment interactions and their role in phenotypic expression and disease development. It explains that all traits are influenced by both genetic and environmental factors, and that variations in genetic makeup are associated with most diseases. Common diseases like diabetes and heart disease are caused by a complex interplay between multiple genetic and environmental risk factors. The effects of genes depend on the environment, and the environment's effects depend on an individual's genes. Several examples are provided to illustrate how changes in environment can influence the phenotype of genetic traits and alter disease risk.
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Depression has significant financial and health costs both directly and indirectly. Direct costs of treating depression through prescription drugs and medical treatment is $30 billion per year in the United States. Indirect costs, including related health issues, unemployment, and medical disability, amount to $210 billion annually. Factoring in worldwide costs, depression is estimated to cost over $1 trillion per year globally. Depression also increases the risks of various diseases and health conditions, as well as depression in spouses and children. Leaving untreated depression can have wide-ranging negative impacts on both individual and public health.
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Asperger syndrome
Asperger syndrome is a subtype of autism characterized by lack of eye contact, inability to understand social cues, obsession with unusual topics, and awkward movements. It is caused by changes in the brain that may be genetic or environmental. Boys are more likely to be affected than girls. Treatment includes social skills training, speech therapy, and other therapies, as Asperger syndrome affects about 1 in 68 children.
Asperger syndrome
Asperger syndrome is a subtype of autism characterized by lack of eye contact, inability to understand social cues, obsession with unusual topics, and awkward movements. It is caused by changes in the brain that may be genetic or environmental. Boys are more likely to be affected than girls. Treatment includes social skills training, speech therapy, and other therapies, as about 1 in 68 children are estimated to have an autism spectrum disorder, with Asperger's accounting for 75% of cases.
Multifactorial disorders
Multifactorial disorders are caused by multiple genes interacting with environmental factors, with each factor making a small contribution. Common multifactorial disorders include asthma, autoimmune diseases, cancers, cardiovascular diseases, diabetes, and mood disorders. The risk of developing a multifactorial disorder is influenced by family history and other genetic and environmental risk factors. Treatment depends on the specific disorder but may include controlling environmental triggers, medication, and lifestyle changes.
The Connection Between Indoor Air Quality and Asthma
According to the EPA, indoor air quality can have a greater impact on health than outdoor air. People spend around 90% of their time indoors where pollutant levels are often 2-100 times higher than outside. Lung disease is the third leading cause of death in the US, taking over 349,000 lives annually, with asthma being a prevalent chronic disease affecting around 24 million Americans, especially children. Indoor pollutants like household cleaners, mold, and pet dander can trigger asthma by irritating the airways and causing inflammation. Preventing exposure to indoor allergens is important for managing asthma.
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- The causes of IBD are unknown, but involve genetic susceptibility and abnormal immune responses to environmental triggers like gut microbes. Symptoms vary depending on the specific disease and location of inflammation. Diagnosis involves endoscopy and biopsy to distinguish IBD from other conditions. While there is no cure, treatment aims to induce and maintain remission.
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Similar to Complex diseases
Genetic disorders
Genetic disorders can be caused by abnormalities in a single gene or multiple genes, and may be inherited from parents or occur spontaneously. They range from very rare to more common conditions. The inheritance pattern (autosomal dominant, recessive, X-linked, mitochondrial) determines who is at risk of passing on the disorder. While some disorders cause death or disability, others only affect specific traits; treatment focuses on managing symptoms rather than curing the underlying genetic cause.
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This document discusses various familial risk factors for atherosclerosis, including familial hypercholesterolemia, hypertension, diabetes, and obesity. It describes the genetics and mechanisms underlying each condition, such as mutations in LDLR, ApoB, and PCSK9 genes for familial hypercholesterolemia. Environmental and epigenetic factors that interact with genetic risks to influence atherosclerosis are also reviewed. The document provides guidelines for diagnosing each familial condition based on clinical criteria such as LDL levels and family history of premature cardiovascular disease.
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This document discusses gene-environment interactions and their role in phenotypic expression and disease development. It explains that all traits are influenced by both genetic and environmental factors, and that variations in genetic makeup are associated with most diseases. Common diseases like diabetes and heart disease are caused by a complex interplay between multiple genetic and environmental risk factors. The effects of genes depend on the environment, and the environment's effects depend on an individual's genes. Several examples are provided to illustrate how changes in environment can influence the phenotype of genetic traits and alter disease risk.
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This document discusses human genetics and genetic disorders. It begins by noting statistics on genetic abnormalities in newborns and diseases with a genetic component. It then defines genetics, genomics, proteomics, and single nucleotide polymorphisms. The rest of the document discusses molecular bases of human disease including functional and positional cloning. It classifies human diseases and discusses mutations, Mendelian disorders, X-linked disorders, and autosomal dominant and recessive patterns of inheritance. Key points covered include definitions of genetic terms, Mendel's laws of inheritance, mechanisms of various disorders, and inheritance patterns.
Schizophrenia as a multifactorial disorder
Schizophrenia is a multifactorial disorder caused by the combined effects of multiple genes and environmental factors, rather than a single gene. It does not follow Mendelian patterns of inheritance. While relatives of those with schizophrenia have a slightly higher risk, the incidence is only around 2-4%, indicating multiple genetic and environmental contributions rather than single gene mutations. Studies examine genetic associations through single nucleotide polymorphisms (SNPs) to identify candidate genes that may increase risk or impact treatment response for schizophrenia as a complex, multifactorial condition.
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This document discusses different modes of genetic inheritance including single gene (Mendelian) disorders, chromosomal disorders, multifactorial inheritance, and teratogenically caused conditions. It provides details on autosomal dominant, autosomal recessive, X-linked, and multifactorial inheritance. Examples are given of many common genetic disorders that are inherited through each of these modes of inheritance such as cystic fibrosis, sickle cell anemia, phenylketonuria, and Marfan syndrome. The roles of new mutations, variable expression, and consanguinity are also described.
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1. The document discusses genetic disorders and cancer, covering topics like common genetic disorders, causes of genetic disorders, symptoms, single gene disorders, cancer characteristics, and genes commonly mutated in cancer.
2. It provides details on different types of genetic disorders like chromosomal, complex/multifactorial, and single-gene disorders. Common examples like Down syndrome and cystic fibrosis are mentioned.
3. The causes of genetic disorders include gene mutations from environmental factors like chemical exposure. Symptoms vary depending on the disorder but can include developmental delays, organ issues, and neurological problems.
4. Single gene disorders can be dominant, recessive, or X-linked. Cancer arises from gene mutations that disrupt cell growthComprehensive survey of human genetic diseases
This document provides an overview of the importance of genetics to medicine. It discusses that over 12 million Americans have genetic disorders, and genetics plays a role in many medical conditions. It then covers several key genetics topics including single gene defects, chromosomal abnormalities, inheritance patterns, genetic disorders, and birth defects. Specific genetic disorders like cystic fibrosis, Tay-Sachs disease, and phenylketonuria are summarized. Key genetic terminology is also defined.
GENETIC DISORDERS
This document provides an overview of genetic diseases and inheritance patterns. It discusses several types of genetic disorders including single gene inheritance, multifactorial inheritance, chromosomal abnormalities, and mitochondrial inheritance. Specific genetic diseases are described for each category, such as cystic fibrosis, sickle cell anemia, and Alzheimer's disease. The roles of genes, chromosomes, and mitochondria in the development and transmission of genetic traits and diseases are also summarized.
TRADITIONAL INHERITANCE
The modern scientific era begins with the work of Austrian monk, Gregor Mendel, who in 1865 presented the results of his breeding experiments on contrasting characters in garden peas
Mendel's laws of inheritance
Dominant inheritance
Dominant mutations are expressed when only one copy of that mutation is present. Therefore, anyone who inherits one dominant disease mutation such as the mutation for Huntington’s disease will have that disease.
Dominantly inherited genetic diseases tend to occur in every generation of a family. Each affected person usually has one affected parent.
However, dominant mutations can also happen in an individual for the first time, with no family history of the condition (spontaneous mutation).
Genetics and internal medicine (1& 2)
The document summarizes a genetics course taught by Dr. Ahmed Elshebiny. The course covers basic principles of medical genetics including the structure of DNA and chromosomes. It examines the genetic basis of various diseases and inheritance patterns. The course also explores applications of genetics in clinical practice such as genetic testing and gene therapy.
SCHIZOPHRENIA Epidemiology and Genetics.pptx
Epidemiological and genetic theories of schizophrenia.
Who global burden o disease
family studies, twin and molecular studies. kretschmer body build theory and risk of schizophrenia
15 Genetic Diseases
Genetic diseases are increasing due to factors like environmental pollution and improved diagnostic techniques. In China, it is estimated that 1 million new patients develop inherited disorders each year. Genetic diseases can be classified as chromosomal abnormalities, single gene disorders, and polygenic disorders. While most genetic diseases cannot be cured, treatment options include dietary restrictions, removing harmful substances, supplementing lacking substances, and gene therapy shows promise for some conditions. Prevention involves genetic counseling and prenatal testing.
GENETICS AND MODES OF INHERITANCE( SPECIAL REFERENCETO CHROMOSOMAL DISORDERS ...
GENETICS AND MODES OF INHERITANCE ( WITH SPECIAL REFERENCE TO CHROMOSOMAL DISORDERS IN CHILDREN ), PEDIGREE ANALYSIS AND DIAGNOSTIC MODALITIES.
Pathophysiology pptx
The document provides an overview of pathophysiology and related terminology. It discusses how pathophysiology involves understanding the basic mechanisms of health and disease. Disease develops when homeostasis is disrupted and not restored. The study of pathophysiology examines anatomy, physiology and pathology to understand the causes and signs of disease. Related terminology like etiology, diagnosis and predisposing factors are defined. Genetic disorders like single gene, chromosomal and multifactorial conditions are described. Environmental factors before and during pregnancy that can negatively impact development are also outlined.
Genetics and Internal Medicine (1)
First Lecture in Genetics Course ( Internal Medicine) for undergraduates ( 5th year) /Menoufyia faculty of Medicine, Egypt/ April 2011
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GENETICS AND MODES OF INHERITANCE( SPECIAL REFERENCETO CHROMOSOMAL DISORDERS ...
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Latinos in Clinical Research
This organization aims to increase Latino participation in the research industry through employment opportunities and participation in clinical trials. They seek to reduce health disparities overall. The team introduces themselves and their social media profiles, welcoming all ethnicities to learn and grow together. They will provide educational resources like videos, podcasts, and meetings to their members on the importance of diversity in clinical trials.
Dscs clinical trial services flyer
DSCS provides various services to help clinical trial sites acquire and manage studies, including monthly quality assurance monitoring, virtual workspace access, feasibility questionnaires, budget negotiation, clinical trial management systems, staff training, standard operating procedures, and unlimited phone consultations. DSCS has over 25 years of experience in clinical trials and owns and operates some startup clinical research sites. The company markets each physician site to pharmaceutical companies to match them with applicable trials based on a site survey. Services are provided for a flat $1,299 monthly fee with no additional costs, and sites remain the payee for any contracts and budgets negotiated by DSCS.
The importance of quality assurance
Quality assurance in clinical research involves systematically examining all trial activities and documents to ensure compliance. This includes ensuring data collected matches the protocol and source documents. Components of quality include thorough standard operating procedures, trained personnel, proper document management, and corrective action plans. Regular audits of regulatory documents, source documents, and case report forms help ensure accuracy and protocol adherence.
The benefits of being a principal investigator
This document outlines the benefits of physicians serving as Principal Investigators (PIs) in clinical research. Only 15% of doctors participate as PIs, and 90% of those who do a first study do not do another. Serving as a PI plays an important role in raising public awareness of research and makes patients more likely to enroll in studies. PIs can participate in academic research funded by grants or industry-sponsored research developed by sponsors. Benefits include control over academic research, access to industry research unaffected by budgets cuts, and potential to supplement private practice income significantly as PIs can earn $500,000 annually from research in addition to their private practice salaries.
Sop writing for research sites
This document provides guidance on writing standard operating procedures (SOPs) for research sites. It defines SOPs as structured documents that detail steps to achieve expected outcomes. SOPs describe technical and operational elements, ensure regulations and policies are followed, improve data quality, and serve as training guides. The document recommends SOP topics and outlines a process for developing SOPs that involves identifying key stakeholders, reviewing regulations and policies, process mapping, drafting, reviewing, and authorizing final SOPs. It provides tips on format, language, and resources for SOP development.
Regulatory documents in clinical research
The document outlines various regulatory documents that must be maintained at clinical research sites, including an investigator's agreement signed by the principal investigator taking responsibility for the study conduct, financial disclosure forms for study staff, protocol signature pages signed by the PI and staff training logs to document that all personnel are qualified to perform assigned tasks. Other required documents include IRB approvals, subject enrollment logs, investigational product accountability records, safety reports, correspondence between the site and sponsor/IRB, a CLIA waiver if biological samples are collected, and an investigator's brochure containing information on the study drug.
Negotiating contracts and budgets
Negotiating budgets is important for clinical trial sites. While some CROs believe sites cannot negotiate and still receive studies, CROs actually have maximum budgets per site. Sites should negotiate to get as close to the maximum as possible. If sites do not negotiate, it sets a lower standard and indicates a site is less experienced. CROs are given a total budget from sponsors and keep the difference between that amount and negotiated site budgets as profit. As such, CROs have incentive to keep site budgets low. Sites should justify costs, be aware of standards, aim for a 30% increase, and negotiate early before subjects potentially drop out.
Managing the clinical research process
Managing clinical research requires acquiring studies, selecting sites, and setting up regulatory and operational processes. Key steps include business development to find studies, signing confidentiality agreements, completing feasibility surveys, undergoing site selection visits, negotiating contracts and budgets, establishing regulatory documents and staff training, conducting study start-up activities, hiring coordinators, and ensuring proper conduct through monitoring visits, database locks, closeouts, and payments. Effective management requires timely responses, active business development, and strong relationships with sponsors.
How to send biz dev emails
This document provides guidance on conducting business development for clinical research sites to obtain more studies. It discusses the importance of business development and outlines two main ways sites can get studies - outbound leads through cold/warm pitches and inbound leads from past sponsors. The document then details strategies for an effective customized email pitch to sponsors, including recommended information to include and how to follow up. It stresses the importance of following up repeatedly with leads through use of a customer relationship management system to track communication history.
How to address pi concerns
This document provides guidance on keeping principal investigators engaged and interested in clinical research at different stages: 1) When initially pitching them, emphasize the limited work, easy revenue, and excellent pay; 2) In the interim before a study, lower expectations on timing, provide updates, and ask them to update their CV or gain experience; 3) Once a study is secured, communicate payment timelines and address concerns about responsibility and potential audits. The overarching recommendation is to continuously communicate with the PI to keep them informed and comfortable with the process.
Employee retention and assessing employee workload in busy clinical research ...
- Employee retention is dropping in clinical research due to competitive market with better incentives elsewhere. To retain employees, companies should pay salaries on the high end and offer incentives like profit sharing.
- Coordinators can become overwhelmed with too large a workload, slowing performance. To assess workload, consider complexity of assigned studies, frequency of visits, and enrollment levels. Basic math can estimate time needed per subject visit.
- Signs a coordinator needs help include unanswered queries, lack of regulatory document maintenance, and unfiled documents. Talk to coordinators and monitors to determine if additional hiring is needed.
Deconstructing all types of monitoring visits
There are four types of monitoring visits for clinical trials: site selection visits, site initiation visits, interim monitoring visits, and close out visits. Site selection visits involve touring facility and assessing capabilities. Site initiation visits focus on training, delegation, supply receipt, and system access. Interim monitoring visits review protocol compliance, safety reporting, data verification, and recruitment. Close out visits include reconciling supplies, closing safety reports, finalizing data, and archiving documents.
Business models for clinical research sites
The document discusses different business models for clinical research sites based on their size. For small sites, the coordinator typically handles all study responsibilities. As sites grow to medium size, roles and responsibilities are divided among more staff and departments. For large mega sites, a site director oversees all research staff and communicates with the site owner. The owner's role decreases as the site scale increases.
An indepth look at feasibility questionnaires
A feasibility questionnaire is a survey sent by sponsors to potential clinical trial sites to determine site qualification and estimate patient enrollment projections. It is typically 7-10 pages and asks key questions like the number of patients a site can screen and enroll per month. Sponsors use the enrollment projections to plan site selection and staffing. It is important for sites to provide conservative but realistic estimates, as sponsors will hold them accountable. Maintaining a copy of the feasibility questionnaire answers can help sites confirm information during monitoring visits.
12 months to 7 figures
Running clinical trials can be very profitable, with profit margins ranging from 40-90%. There are two main options - conducting inpatient or outpatient studies. Inpatient studies where patients stay overnight offer the highest potential profits, especially if the site can negotiate a high nightly reimbursement rate from the sponsor (e.g. $1100 per night) while keeping costs low by using facilities like assisted living. Outpatient studies provide steady income but lower profits. The key is to minimize costs and retain patients to complete studies. With the right combination of high-paying studies and patient enrollment, a clinical trials site could reach seven figures in profits within 12 months.
How To Recruit Patients
This document provides strategies for finding patients for clinical trials, including mining an existing private practice database; establishing referral processes with referring physicians, specialists, and private practice staff; advertising through traditional media like TV, radio and newspapers; online and digital advertising on platforms like Google and Facebook; long-term branding through a YouTube channel, podcast or articles; engaging with community patient advocacy groups; and encouraging word-of-mouth referrals from existing patients. The strategies aim to capture patient information like emails and phone numbers and do not always require IRB approval.
Interim Monitoring Visits
An interim monitoring visit typically lasts 4-6 weeks and involves the CRA reviewing documents, checking enrollment status, verifying informed consent, and ensuring regulatory compliance. The CRA sends a confirmation letter beforehand outlining what will be checked. During the visit, the CRA signs in, reviews outstanding issues, performs source data verification, and ensures protocols are followed for areas like deviations, data collection, and regulatory documents. A follow up letter is later sent summarizing any new action items or findings.
How to find investigators for clinical trials
This document provides guidance on finding principal investigators (PIs) for clinical trials. It recommends looking for a PI who is an MD or DO licensed in your state and lives near the research clinic. It's best if the first PI has their own general practice, as they can refer a variety of patients to studies. Using the PI's existing office has advantages over leasing your own space. Potential PIs can be identified through professional networks, advertisements, and websites. When pitching opportunities to doctors, be prepared for common objections and have a proposed study and compensation plan ready. Maintaining strong operations and open communication is key to retaining PIs long-term.
The Cra Academy Overview
Learn the fundamentals of clinical research in this 3 month online course and then begin your internship in this industry through our network.
Genes in psychiatry (1)
Single nucleotide polymorphisms (SNPs) are variations in DNA sequences between individuals that occur approximately every 500-1000 nucleotides. SNPs make up 0.4% of the human genome and can be found in coding and non-coding regions. Researchers scan DNA samples for SNPs to locate genetic markers associated with diseases like schizophrenia. Chip technology allows for rapid, large-scale testing of over a million SNPs to identify candidate genes for various traits and medical conditions.
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Complex diseases
- 1. Genotypes and Phenotypes Gene Expression Factors that Affect Gene Expression
- 2. Human diseases are caused by a multitude of genetic and environmental factors acting together. In certain conditions such as Down syndrome, genetic factors predominate, while in infectious diseases, for example, environmental factors predominate. Most chronic non-communicable diseases such as schizophrenia and diabetes, asthma, obesity, coronary artery disease as well as some congenital malformations are caused by an interaction of both genetic and environmental factors.
- 3. Diseases that show familial clustering but do not conform to any recognized pattern of single gene inheritance are termed multifactorial disorders. They are determined by the additive effects of many genes at different loci together with the effect of environmental factors.
- 5. What is Mendelian genetics? Mendelian way of inheritance(dominant, recessive or sex-linked) is the way most of us studied genetics in college. Mendelian genetics applies to rare diseases only, such as cystic fibrosis, Huntington’s disease, muscular dystrophies, etc. These conditions render individuals unfit for breeding, which is the reason they are rare.
- 7. Common diseases such as diabetes mellitus type 2, asthma, coronary artery disease or schizophrenia are called complex diseases and their inheritance is multifactorial. Multifactorial Diseases can be detected by association studies. Monogenic diseases are usually detected by linkage studies.
- 8. A high probability(p) of a genetic locus being associated with a condition(red bars)- in this example EGR3 gene signals the highest ( p )value.
- 9. These conditions show a definite familial tendency but the incidence in close relatives of affected individuals is usually around 2-4% instead of the much higher figures that would be seen if these conditions were caused by mutations in single genes(25-50%).
- 11. Congenital Malformations: -Congenital heart defects -Neural tube defects -Cleft lip/palate -Pyloric stenosis -Congenital hip displasia Common non-communicable diseases: -Asthma -Schizophrenia -Diabetes Mellitus -Hypertension
- 12. Genes code for proteins. Proteins determine the visible characteristic of an individual (phenotype).
- 15. The inheritance and expression of a phenotype is determined by many genes at different loci, with each gene exerting a small additive effect. Additive implies that the effects of the genes are cumulative, i.e. no one gene is dominant or recessive to another.
- 16. Multiple genes and the environment lead to vulnerability for the schizophrenia phenotype.
- 17. Genes do not cause schizophrenia or symptoms of schizophrenia. Genes cause subtle molecular changes in proteins and cells that may bias the individual towards psychosis. Genes do not respect the boundaries between schizophrenia, bipolar disorder or dementia.
- 18. Enlarged lateral ventricles is a frequent endophenotype in schizophrenia.
- 19. Heritability of a trait or disease is the proportion of the total variance that is genetic. The overall variance of the phenotype is the sum of the environmental and genetic variance. Heritability provides information of the importance of genetic factors in the causation of a disease.
- 20. Schizophrenia 85 Asthma 80 Pyloric stenosis 75 Ischemic heart disease 65 Essential hypertension 60 Spina bifida 60 Diabetes mellitus 40