this helps to understand the normal techniques related to biotechnology in a simple manner and provides you broad idea about the subject. A brief knowledge about the topic is presented in this presentation.
Epigenetics is the study of heritable changes in gene expression (active versus inactive genes) that do not involve changes to the underlying DNA sequence — a change in phenotype without a change in genotype — which in turn affects how cells read the genes. - [https://www.whatisepigenetics.com/fundamentals/]
Author of this presentation: The University of Western Australia
"Epigenetics refers to genetic factors that change an organism’s appearance or biological functions without changing the actual DNA sequence. In other words, gene expression changes but the genes themselves don’t. Epigenetics adds an additional level of complexity to the genetic code." - Public Health Cafe
this helps to understand the normal techniques related to biotechnology in a simple manner and provides you broad idea about the subject. A brief knowledge about the topic is presented in this presentation.
Epigenetics is the study of heritable changes in gene expression (active versus inactive genes) that do not involve changes to the underlying DNA sequence — a change in phenotype without a change in genotype — which in turn affects how cells read the genes. - [https://www.whatisepigenetics.com/fundamentals/]
Author of this presentation: The University of Western Australia
"Epigenetics refers to genetic factors that change an organism’s appearance or biological functions without changing the actual DNA sequence. In other words, gene expression changes but the genes themselves don’t. Epigenetics adds an additional level of complexity to the genetic code." - Public Health Cafe
Epigenetics is the study, in the field of genetics, of cellular and physiological phenotypic trait variations that are caused by external or environmental factors that switch genes on and off and affect how cells read genes instead of being caused by changes in the DNA sequence. -Wikipedia
Introduction
Definition
History
Why are the transgenic animals being produced
Transgenic mice
Mice: as model organism
Methods of creation of transgenic mice
knock-out mice
Application of transgenic mice
Conclusion
References
Genomics is the study of the structure and action of the genome, i.e. the sum total of genetic material present in an organism. Genetics is the study of heredity and of the mechanisms by which genetic factors are transmitted from one generation to the next.
A knockout mouse is a mouse in which a specific gene has been inactivated or“knocked out” by replacing it or disrupting it with an artificial piece of DNA.
The loss of gene activity often causes changes in a mouse's phenotype and thus provides valuable information on the function of the gene.
Next Generation Sequencing (NGS) Is A Modern And Cost Effective Sequencing Technology Which Enables Scientists To Sequence Nucleic Acids At Much Faster Rate. In This Presentation, You Will Learn About What is NGS, Idea Behind NGS, Methodology And Protocol, Widely Adapted NGS Protocols, Applications And References For Further Study.
Epigenetics is the study, in the field of genetics, of cellular and physiological phenotypic trait variations that are caused by external or environmental factors that switch genes on and off and affect how cells read genes instead of being caused by changes in the DNA sequence. -Wikipedia
Introduction
Definition
History
Why are the transgenic animals being produced
Transgenic mice
Mice: as model organism
Methods of creation of transgenic mice
knock-out mice
Application of transgenic mice
Conclusion
References
Genomics is the study of the structure and action of the genome, i.e. the sum total of genetic material present in an organism. Genetics is the study of heredity and of the mechanisms by which genetic factors are transmitted from one generation to the next.
A knockout mouse is a mouse in which a specific gene has been inactivated or“knocked out” by replacing it or disrupting it with an artificial piece of DNA.
The loss of gene activity often causes changes in a mouse's phenotype and thus provides valuable information on the function of the gene.
Next Generation Sequencing (NGS) Is A Modern And Cost Effective Sequencing Technology Which Enables Scientists To Sequence Nucleic Acids At Much Faster Rate. In This Presentation, You Will Learn About What is NGS, Idea Behind NGS, Methodology And Protocol, Widely Adapted NGS Protocols, Applications And References For Further Study.
The project was a great success, delivering the first rough draft human genome sequence in 2000 and the final high-quality version in April, 2003, ahead of schedule and under budget. For years, many considered the Human Genome Project to be biology's equivalent to "Man on the moon". This slide tends to explain the benefits of such project to medical diagnosis, treatment and management in India.
The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying and mapping all of the genes of the human genome from both a physical and a functional standpoint.
The presentation gives a brief overview of the concept of the following :
1. what are user chargers
2. should we abolish them or not.
3. What could be the impact of either keeping them or abolishing them,
4. What role would the abolishment of User Charges play in achieving the goal of Universal Health Coverage?
RMNCH+A approach has been launched in 2013 and it essentially looks to address the major causes of mortality among women and children as well as the delays in accessing and utilizing health care and services. The RMNCH+A strategic approach has been developed to provide an understanding of ‘continuum of care’ to ensure equal focus on various life stages.
The RMNCH+A appropriately directs the States to focus their efforts on the most vulnerable population and disadvantaged groups in the country. It also emphasizes on the need to reinforce efforts in those poor performing districts that have already been identified as the high focus districts.
National framework for malaria elimination in indiaAparna Chaudhary
outlines India’s strategy for elimination of the disease by 2030. The framework has been developed with a vision to eliminate malaria from the country and contribute to improved health and quality of life and alleviation of poverty.
Health economics is a branch of economics concerned with issues related to efficiency, effectiveness, value and behavior in the production and consumption of health and healthcare.
National Nutrition Strategy (NNS) has been published by NITI Aayog in 2017. The salient features of the National Nutrition Strategy are as follows:
Vision 2022: “Kuposhan Mukt Bharat”.
A principal aim of epidemiology is to assess the cause of disease. However, since most epidemiological studies are by nature observational rather than experimental, a number of possible explanations for an observed association need to be considered before we can infer a cause-effect relationship exists.
Hypertension (HTN or HT), also known as high blood pressure (HBP), is a long-term medical condition in which the blood pressure in the arteries is persistently elevated.
this presentation have various hypertension management guidelines used in the Indian context, hypertension management algorithm, medication used and AYUSH interventions
Comprehensive geriatric assessment (CGA) is a multidimensional, interdisciplinary diagnostic process to determine the medical, psychological and functional capabilities of a frail elderly person in order to develop a co-ordinated and integrated plan for treatment and long-term follow up
Participatory Learning and Action is a family of approaches, methods, attitudes, behaviors and relationships, which enable and empower people to share, analyze and enhance their knowledge of their life and conditions, and to plan, act, monitor, evaluate and reflect.
Hospital-acquired infections are caused by viral, bacterial, and fungal pathogens; the most common types are bloodstream infection (BSI), pneumonia (eg, ventilator-associated pneumonia [VAP]), urinary tract infection (UTI), and surgical site infection (SSI)
Telehealth Psychology Building Trust with Clients.pptxThe Harvest Clinic
Telehealth psychology is a digital approach that offers psychological services and mental health care to clients remotely, using technologies like video conferencing, phone calls, text messaging, and mobile apps for communication.
Global launch of the Healthy Ageing and Prevention Index 2nd wave – alongside...ILC- UK
The Healthy Ageing and Prevention Index is an online tool created by ILC that ranks countries on six metrics including, life span, health span, work span, income, environmental performance, and happiness. The Index helps us understand how well countries have adapted to longevity and inform decision makers on what must be done to maximise the economic benefits that comes with living well for longer.
Alongside the 77th World Health Assembly in Geneva on 28 May 2024, we launched the second version of our Index, allowing us to track progress and give new insights into what needs to be done to keep populations healthier for longer.
The speakers included:
Professor Orazio Schillaci, Minister of Health, Italy
Dr Hans Groth, Chairman of the Board, World Demographic & Ageing Forum
Professor Ilona Kickbusch, Founder and Chair, Global Health Centre, Geneva Graduate Institute and co-chair, World Health Summit Council
Dr Natasha Azzopardi Muscat, Director, Country Health Policies and Systems Division, World Health Organisation EURO
Dr Marta Lomazzi, Executive Manager, World Federation of Public Health Associations
Dr Shyam Bishen, Head, Centre for Health and Healthcare and Member of the Executive Committee, World Economic Forum
Dr Karin Tegmark Wisell, Director General, Public Health Agency of Sweden
Medical Technology Tackles New Health Care Demand - Research Report - March 2...pchutichetpong
M Capital Group (“MCG”) predicts that with, against, despite, and even without the global pandemic, the medical technology (MedTech) industry shows signs of continuous healthy growth, driven by smaller, faster, and cheaper devices, growing demand for home-based applications, technological innovation, strategic acquisitions, investments, and SPAC listings. MCG predicts that this should reflects itself in annual growth of over 6%, well beyond 2028.
According to Chris Mouchabhani, Managing Partner at M Capital Group, “Despite all economic scenarios that one may consider, beyond overall economic shocks, medical technology should remain one of the most promising and robust sectors over the short to medium term and well beyond 2028.”
There is a movement towards home-based care for the elderly, next generation scanning and MRI devices, wearable technology, artificial intelligence incorporation, and online connectivity. Experts also see a focus on predictive, preventive, personalized, participatory, and precision medicine, with rising levels of integration of home care and technological innovation.
The average cost of treatment has been rising across the board, creating additional financial burdens to governments, healthcare providers and insurance companies. According to MCG, cost-per-inpatient-stay in the United States alone rose on average annually by over 13% between 2014 to 2021, leading MedTech to focus research efforts on optimized medical equipment at lower price points, whilst emphasizing portability and ease of use. Namely, 46% of the 1,008 medical technology companies in the 2021 MedTech Innovator (“MTI”) database are focusing on prevention, wellness, detection, or diagnosis, signaling a clear push for preventive care to also tackle costs.
In addition, there has also been a lasting impact on consumer and medical demand for home care, supported by the pandemic. Lockdowns, closure of care facilities, and healthcare systems subjected to capacity pressure, accelerated demand away from traditional inpatient care. Now, outpatient care solutions are driving industry production, with nearly 70% of recent diagnostics start-up companies producing products in areas such as ambulatory clinics, at-home care, and self-administered diagnostics.
One of the most developed cities of India, the city of Chennai is the capital of Tamilnadu and many people from different parts of India come here to earn their bread and butter. Being a metropolitan, the city is filled with towering building and beaches but the sad part as with almost every Indian city
Explore our infographic on 'Essential Metrics for Palliative Care Management' which highlights key performance indicators crucial for enhancing the quality and efficiency of palliative care services.
This visual guide breaks down important metrics across four categories: Patient-Centered Metrics, Care Efficiency Metrics, Quality of Life Metrics, and Staff Metrics. Each section is designed to help healthcare professionals monitor and improve care delivery for patients facing serious illnesses. Understand how to implement these metrics in your palliative care practices for better outcomes and higher satisfaction levels.
Leading the Way in Nephrology: Dr. David Greene's Work with Stem Cells for Ki...Dr. David Greene Arizona
As we watch Dr. Greene's continued efforts and research in Arizona, it's clear that stem cell therapy holds a promising key to unlocking new doors in the treatment of kidney disease. With each study and trial, we step closer to a world where kidney disease is no longer a life sentence but a treatable condition, thanks to pioneers like Dr. David Greene.
Navigating Challenges: Mental Health, Legislation, and the Prison System in B...Guillermo Rivera
This conference will delve into the intricate intersections between mental health, legal frameworks, and the prison system in Bolivia. It aims to provide a comprehensive overview of the current challenges faced by mental health professionals working within the legislative and correctional landscapes. Topics of discussion will include the prevalence and impact of mental health issues among the incarcerated population, the effectiveness of existing mental health policies and legislation, and potential reforms to enhance the mental health support system within prisons.
CHAPTER 1 SEMESTER V - ROLE OF PEADIATRIC NURSE.pdfSachin Sharma
Pediatric nurses play a vital role in the health and well-being of children. Their responsibilities are wide-ranging, and their objectives can be categorized into several key areas:
1. Direct Patient Care:
Objective: Provide comprehensive and compassionate care to infants, children, and adolescents in various healthcare settings (hospitals, clinics, etc.).
This includes tasks like:
Monitoring vital signs and physical condition.
Administering medications and treatments.
Performing procedures as directed by doctors.
Assisting with daily living activities (bathing, feeding).
Providing emotional support and pain management.
2. Health Promotion and Education:
Objective: Promote healthy behaviors and educate children, families, and communities about preventive healthcare.
This includes tasks like:
Administering vaccinations.
Providing education on nutrition, hygiene, and development.
Offering breastfeeding and childbirth support.
Counseling families on safety and injury prevention.
3. Collaboration and Advocacy:
Objective: Collaborate effectively with doctors, social workers, therapists, and other healthcare professionals to ensure coordinated care for children.
Objective: Advocate for the rights and best interests of their patients, especially when children cannot speak for themselves.
This includes tasks like:
Communicating effectively with healthcare teams.
Identifying and addressing potential risks to child welfare.
Educating families about their child's condition and treatment options.
4. Professional Development and Research:
Objective: Stay up-to-date on the latest advancements in pediatric healthcare through continuing education and research.
Objective: Contribute to improving the quality of care for children by participating in research initiatives.
This includes tasks like:
Attending workshops and conferences on pediatric nursing.
Participating in clinical trials related to child health.
Implementing evidence-based practices into their daily routines.
By fulfilling these objectives, pediatric nurses play a crucial role in ensuring the optimal health and well-being of children throughout all stages of their development.
CRISPR-Cas9, a revolutionary gene-editing tool, holds immense potential to reshape medicine, agriculture, and our understanding of life. But like any powerful tool, it comes with ethical considerations.
Unveiling CRISPR: This naturally occurring bacterial defense system (crRNA & Cas9 protein) fights viruses. Scientists repurposed it for precise gene editing (correction, deletion, insertion) by targeting specific DNA sequences.
The Promise: CRISPR offers exciting possibilities:
Gene Therapy: Correcting genetic diseases like cystic fibrosis.
Agriculture: Engineering crops resistant to pests and harsh environments.
Research: Studying gene function to unlock new knowledge.
The Peril: Ethical concerns demand attention:
Off-target Effects: Unintended DNA edits can have unforeseen consequences.
Eugenics: Misusing CRISPR for designer babies raises social and ethical questions.
Equity: High costs could limit access to this potentially life-saving technology.
The Path Forward: Responsible development is crucial:
International Collaboration: Clear guidelines are needed for research and human trials.
Public Education: Open discussions ensure informed decisions about CRISPR.
Prioritize Safety and Ethics: Safety and ethical principles must be paramount.
CRISPR offers a powerful tool for a better future, but responsible development and addressing ethical concerns are essential. By prioritizing safety, fostering open dialogue, and ensuring equitable access, we can harness CRISPR's power for the benefit of all. (2998 characters)
Deep Leg Vein Thrombosis (DVT): Meaning, Causes, Symptoms, Treatment, and Mor...The Lifesciences Magazine
Deep Leg Vein Thrombosis occurs when a blood clot forms in one or more of the deep veins in the legs. These clots can impede blood flow, leading to severe complications.
2. Contents
Definitions
Genetic Epidemiology
Genetic Technologies Application
Advances in Molecular Genetics
Population Genetics
Genetic Testing: How it is Used for Healthcare
Ethical, legal and social implications
Preventive and social measures
Inadequacy of Genetics Services
Personalized Medicine, Metagenomics, NIPT Test 02-02-2018
2
3. Definitions
Genetics
Branch of science that deals with the study of
hereditary
Human Genetics
Basic biological science for understanding the
endogenous factors in health and disease and
the complex interaction between nature and
nurture.
02-02-2018
3
5. Genetic Epidemiology
It represents a hybrid of epidemiologic
designs and statistical models that explicitly
consider both genetic and environmental risk
factors for complex disease, that is, those
disease that have some genetic components
to their aetiology but are not exclusively
Mendelian.
02-02-2018
5
7. Genetic factors and disease aetiology
According to the degree of gene mutation,
diseases are categorised into the following:
1. Chromosomal diseases
2. Unifactorial disorders
3. Multifactorial disorders
02-02-2018
7
8. 02-02-2018
8
Source : Pradhan S, Sengupta M, Dutta A, Bhattacharyya K, Bag S.K, Dutta C, etal. Indian genetic disease database. Nucleic Acids Research. 2011;39:D933–8
9. Chromosomal disorders
300 numerical and structural types of
chromosomal aberrations have been described
The incidence – 5.6 per 1000 live births
2 per 1000 live births represent sex aneuploids
1.7 per 1000 live births autosomal aneuploidies
1.9 per 1000 live births chromosomal
translocations
02-02-2018
9
10. Chromosomal disorders
1. Related to Sex Chromosomes
a) Klinefelter’s Syndrome (XXY, XXXY)
• Frequency is 1 in 400 among males at birth
b) XYY Syndrome
• Frequency is 1 in 1000 males at birth
c) Turner’s Syndrome (XO)
• Frequency is 1 in 3000 live girls at the birth
d) Super Female (XXX, XXXX, XXXXX)
• Frequency is 1 in 1000
02-02-2018
10
Source : Gender and Genetics. Available at: http://www.who.int/genomics/gender/en/index1.html
11. Chromosomal disorders
2. Relating to Autosomes
a) Down Syndrome
• Incidence between 1 in 1000 to 1 in 1100 live
births
• India incidence is 1.4/1000 live births
02-02-2018
11
Source:
1. Gender and Genetics. Available at: http://www.who.int/genomics/gender/en/index1.html
2. Sharma R. Birth defects in India: Hidden truth, need for urgent attention. Indian J Hum Genet. 2013; 19(2): 125–9.
13. Multifactorial (Polygenic) disorders
Campbell (1965) stressed that environmental
factors and genetic interact closely resulting in
abnormalities.
The frequency is high compared with that of
Mendelian and chromosomal disorders.
Examples include:
02-02-2018
13
• Essential Hypertension • Diabetes
• Ischemic Heart Disease • Schizophrenia
• Congenital Heart Disease • Mental Retardation
14. Genetic Technologies Application
There are three main categories of the application of
genetic technologies:
1. Human Cloning:
Creation of either human embryos or human
children that are genetically identical to their living
or dead parents.
2. Genetic Trait Selection:
Selection of sperm, eggs or embryos that possess
genes which are associated with certain traits
3. Genetic modification:
Changes and manipulation of genes in living human
cells 02-02-2018
14
16. Advances in Molecular Genetics
02-02-2018
16
What we KNEW
• Structure of DNA
• Genes code for
proteins
• Human genes were
cloned
• DNA sequencing was
just being developed.
What we KNOW
• Entire Human
Genome
• Using large-scale
approaches like
genome wide
association (GWA)
• Discover new roles
for RNA
• Genetic tools like
DNA fingerprinting.
Hope to LEARN
• Use genetic
information to tailor
drug prescriptions,
screening tests, and
lifestyle
recommendations
• Predict and prevent
the emergence and
spread of infectious
diseases
17. Advances in Molecular Genetics
DNA Technology
• Synthesis of DNA probes with specific sequences
identifying complementary DNA sequences – allow
genetic diagnosis and further analysis
• DNA sequencing – rapid analysis of unknown DNA and
identification of mutation
• PCR – amplifying known DNA sequence
• Coding sequences – production of therapeutic agents
(insulin, erythropoietin, factor VIII)
• Positional cloning strategies – simplified the study of
families.
02-02-2018
17
18. Advances in Molecular Genetics
DNA Technology
• In Vitro – examining protein product of gene sequences
with unknown function
• Fluorescence in situ hybridization (FISH) – permits direct
visualization of genes to one another
• Comparison between DNA sequences- elucidate
mechanism of evolution
• Insertion of coding DNA sequences into animal embryos
– create transgenic animals.
• Insertion of missing DNA or excision of harmful one
(GENE THERAPY)
02-02-2018
18
19. Advances in Molecular Genetics
Recombinant DNA Technology
When two DNAs of different origin are combined, the
result is a recombinant DNA molecule.
The recombinant DNA molecule is placed in a host cell.
The host cell then replicates (producing a clone), and
following its amplification it can be purified for further
analysis.
The top four applications are:
a) Diagnosis of Genetic Diseases
b) DNA Typing
c) Gene Therapy
d) Synthesis of Human Insulin and Hepatitis B Vaccine
02-02-2018
19
20. Advances in Molecular Genetics
Gene Therapy
Introduction of a gene sequence into a cell
Aim of modifying the cell’s behaviour
Gene may be introduced using virus (retrovirus or
adenovirus) or by means of lipid or receptor targeting.
Used –
• Genetic mutation – Cystic Fibrosis
• Kill a cell – Cancer
• Modify susceptibility – Coronary Heart Disease
02-02-2018
20
21. Advances in Molecular Genetics
The Human Genome Project
Is an attempt to systematize the research on
mapping and isolating human genes that is
already in progress in many countries.
Agencies include UNESCO, the Genome Data
Base, HUGO, the National Institute of
Health/Department of Energy (USA), the Medical
Research Council (UK), Genethon (France) and
the European Union.
02-02-2018
21
23. Advances in Molecular Genetics
The Human Genome diversity project
Is aimed at increasing understanding of Human
evolution
Major objective – define the genetic relationships
between human population and interpret them.
02-02-2018
23
25. Population Genetics
Defined as a study of the precise genetic
composition of population and various factors
determining the incidence of inherited traits in
them.
Founded by Hardy in England and Weinberg in
Germany in 1908.
Hardy – Weinberg Law states “the relative
frequencies of each gene allele tends to remains
constant from generation to generation.”
02-02-2018
25
26. Population Genetics
Factors influencing Gene Frequency
a) Mutations
b) Natural Selection
c) Population Movements
d) Breeding Structure
e) Public Health Measures
02-02-2018
26
27. Role of Genetics in Public Health
Identification of a genetic condition or
predisposition before the onset of clinically
recognized, irreversible disease.
Evidence that screening for a genetic trait and
providing early intervention results in improved
prognosis and favourable health outcomes.
Helps in identification and modification of
environment risk factors among persons
susceptible to disease due to genotype.
02-02-2018
27
28. Population targeted by Public Health
Genetics Intervention
Priorities need to be established
Depends on the burden of these rare diseases
Ethnic group can be target population of
screening programs
02-02-2018
28
29. Genetic Predisposition in Human Disease
Genetic predisposition in human disease can
help accomplish goals of Public Health
1. Improved prediction of individuals at risk
2. Design and implementation of targeted
biologic interventions
3. Deeper insights into biology of a disease
02-02-2018
29
30. Genetic Testing: How it is Used for
Healthcare
Yesterday
a) Late 1800s - Chromosomes first discovered
b) Early 1900s - inherited diseases were first linked to
chromosomes.
c) 1950s - Genetic tests for genetic conditions such as
Down syndrome, cystic fibrosis, and Duchenne
muscular dystrophy.
d) Genetic testing was used to confirm a diagnosis of a
genetic condition, and to screen new-borns for
conditions such as phenylketonuria (PKU).
02-02-2018
30
31. Genetic Testing: How it is Used for
Healthcare
Today
a) Genetic testing is available for over 2000 rare and
common conditions.
b) There are a number of different types of genetic tests
available today
02-02-2018
31
1. Diagnostic testing 5. Pre-implantation testing
2. Predictive and pre-
symptomatic testing
6. New-born testing
3. Carrier testing 7. Research genetic testing
4. Prenatal testing 8. Pharmacogenetics testing
32. Genetic Testing: How it is Used for
Healthcare
Tomorrow
a) Genetic Test Registry
b) Cost of genetic testing to decline. Eventually the
cost of sequencing an individual’s entire genome
- will be less than $1,000.
c) Time of more effective “Personalized Medicine”.
02-02-2018
32
33. Ethical, legal and social implications
1. Use of genetic information: confidentiality and
discrimination
a) Genetic information does not change over time
b) Genetic information about one individual has
implications not only for the individual but also
for his/her family members.
c) Information might be used as a source of
discrimination
02-02-2018
33
35. Ethical, legal and social implications
2. DNA Banks
a) Many DNA banks were formed from DNA samples
collected for specific research or projects
b) Once they serve their use…. WHAT SHOULD NOW
BE DONE WITH THESE SAMPLES?CAN THE
RESEARCHERS USE THEM WITHOUT THE CONSENT
OF THOSE WHO GAVE THE SAMPLES? Etc.
c) Researchers and ethicists face such issues because
nature of prospective research will depend on
decision to use the sample from DNA bank or not.
02-02-2018
35
37. Ethical, legal and social implications
3. Prenatal diagnosis, assisted reproduction and
embryo selection
a) Genetic test performed make it possible to select
only embryos that fit certain criteria.
b) For now, it is use to avoid birth of children with
severe hereditary disorders.
c) It might open the door to “Embryo selection”
d) Prenatal diagnosis implies that selective abortion is
an option
e) It raises the question of legal status of embryo. 02-02-2018
37
38. Ways to address privacy concerns
• UNESCO Bioethics Committee and International
Regulation of Gene Therapy, 1994
• Genetic Information Non-discrimination Act GINA,
US;2008
• Gene Technology Act 2000
• Genetic Engineering Appraisal Committee (GEAC), 1989
• Recombinant DNA Safety Guidelines, 1990 & 1994
• Guidelines for Generating Preclinical and Clinical Data for
rDNA vaccine, 1989
• The Biotechnology Regulatory Authority of India Bill, 2013
02-02-2018
38
INDIAN GUIDELINES
39. Preventive and social measures
Health Promotional Measures
1. Eugenics
a) Proposed by GALTON
b) Aim – to improve the genetic endowment of
human population
c) Can be
I. Negative Eugenics
II. Positive Eugenics
02-02-2018
39
40. Preventive and social measures
Health Promotional Measures
2. Euthenics
a) This consist of improving the quality of
human environment, since it has influence on
the genetic potential/development.
02-02-2018
40
41. Preventive and social measures
Health Promotional Measures
3. Genetic Counselling
a) Process of offering advice to the individuals
to improve the genetic constitution at the
individual family level.
b) Two types
I. Prospective Counselling
II. Retrospective Counselling
02-02-2018
41
42. Preventive and social measures
Health Promotional Measures
4. Other General Measures
a) Prevention of Consanguineous Marriage
(prevents albinism, alkaptonuria,
phenylketonuria)
b) Avoiding Late Marriages (prevents Down’s
Syndrome)
02-02-2018
42
43. Preventive and social measures
Specific Measure
a) Avoiding exposure to mutagens (radiation,
chemicals)
b) Immunization against Rubella
c) Immunization of Rh-ve mothers with anti D-globulin
02-02-2018
43
44. Preventive and social measures
Early Diagnosis and Treatment
a) Detection of Genetic Carriers
b) Prenatal Diagnosis
i. USG
ii. Amniocentesis
iii. Chorionic Villous Sampling
c) Neonatal Screening Procedures
i. Clinical and Biochemical Examination
ii. Hb Electrophoresis
d) General population screening procedures 02-02-2018
44
45. Preventive and social measures
Indication for Prenatal
Diagnosis
Methods
I. Advanced maternal age,
previous child with
chromosome aberration,
intrauterine growth delay
Cytogenetic (Amniocentesis,
Chorionic villous sampling)
2. Biochemical disorders Protein assay, DNA diagnosis
3. Congenital anomalies Sonography, foetoscopy
4. Screening for neural tube
defects and trisomy
Maternal serum Alpha-feto
protein and chorionic
gonadotropin 02-02-2018
45
46. Preventive and social measures
Disease Treatment
• Phenylketonuria Diet low in phenylalanine
• Hemophilia Factor VIII
• Spina Bifida Surgery
• Galactosemia Restriction of galactose
• Lactase Deficiency Restriction of Lactose
• Agammaglobulinemia Administration of Gamma Globulin
• Homocystinuria Administration of Pyridoxine
• Maple syrup urine disease Administration of Thiamine
• Hereditary spherocytosis Splenectomy
• Familial polyposis of colon Colectomy
• Adult polycystic kidney disease Kidney Transplantation
02-02-2018
46
47. Established Genetic population-screening services
Type of service Conditions Preventive or screening action
Primary
Prevention
• Rhesus haemolytic disease
• Congenital rubella
• Congenital malformation
Postpartum use of Anti- D globulin
Immunization of girls
Folic acid, control maternal
diabetes, avoidance of mutagens
Antenatal
screening
• Congenital malformations
• Chromosomal
abnormalities
• Inherited disease
USG of Foetal anomaly scan,
maternal serum AFP estimation
Maternal age and maternal serum
factor levels
Carrier screening
Neonatal
screening
• Congenital malformations
• Phenylketonuria, sickle cell
anemia
Examination of new-born for early
treatment
Biochemical test for early
treatment 02-02-2018
47
48. Inadequacy of Genetics Services
Paucity of Resources
Unaddressed needs in areas of Health Care
Presence of other competing priorities
Low genetic literacy among general public
Culture, legal or religious limitations
Insufficient number of trained health professionals
Inadequate data on health and economic burden
02-02-2018
48
49. Personalized Medicine
It is the practice of sequencing a patient’s genome
and combining this information with new
knowledge of genetic basis of many disease, as
well as the genetic component of treatment.
The Personalized Medicine Coalition, an
independent, non-profit group “works to advance
the understanding and adoption of personalized
medicine for ultimate benefit of patients”.
02-02-2018
49
50. Personalized Medicine…
02-02-2018
50
Advantages
a) Pharmacogenomics
b) Reduce inappropriate
prescriptions
c) Personalized health
and nutritional
recommendations.
E.g. SCIONA
Disadvantages
a) Possibility of
unauthorized or even
discriminatory use of the
information
b) Genomic information of
one person can imply to
genetic makeup of the
blood relatives, raising
privacy issues.
51. Metagenomics
Metagenomics to envision medical microbiology from
ecological viewpoint.
It skips the step of culturing and isolating individual
microbes and leaps to the step of sequencing the DNA
isolated directly from an investigational microbial
community.
Leading to the revolutionary era of designing probiotics
which serve as a new approach to disease prevention
and treatment (Regenerative medicine).
Lactobacillus reuteri 30242 has been found to lower
cholesterol. 02-02-2018
51
52. NIPT Test/ Harmony Test/ Panorama Test
Non invasive Prenatal Testing to detect chromosomal
abnormalities
Maternal blood carries call free foetal DNA which can be
isolated and measured
Accuracy – 99.5%
Done typically between 10th – 24th week of gestation
Recommended among
Maternal age above 35 years
Family history
Any abnormal Prenatal Test 02-02-2018
52
55. • Laboratory facilities
1. Karyotyping from blood, tissues, chorionic villi, amniotic fluid and
products of conception
2. Quantitative fluorescent PCR (QF-PCR) for rapid detection of
aneuploidy in prenatal samples
3. Molecular diagnostic services and prenatal diagnosis for genetic
disorders
4. Biochemical testing for inborn errors of metabolism
56. Prenatal diagnosis and genetic counselling
1.Scanning for fetal malformations by ultrasound
2.Chorionic villus sampling
3.Amniocentesis
Fetal autopsy
In case of stillbirths and foetuses aborted after ultra sonographic detection of
malformations, detailed radiologic study and autopsy helps in providing a definitive
diagnosis of the condition.
58. References
• Fallin MD, Duggal P, Beaty TH. Genetic Epidemiology and Public Health: The
Evolution From Theory to Technology. American Journal of Epidemiology.
2016;183(5):387-93.
• Laberge AM. Genetics and Public Health. Atlas Genet Cytogenet Oncol
Haematol. 2004:181-90.
• Hanen M. Genetic Technologies and Medicine: Privacy, Identity, and
Informed Consent. Available at :
https://www.idtrail.org/files/ID%20Trail%20Book/9780195372472_kerr_10
.pdf
• Brand A, Brand H, Baumen TS. The impact of genetics and genomics on
public health. European Journal of Human Genetics. 2008;16:5-13.
• Pradhan S, Sengupta M, Dutta A, Bhattacharyya K, Bag S.K, Dutta C, etal.
Indian genetic disease database. Nucleic Acids Research. 2011;39:D933–8.
• Kar SK. The Human Microbiome Concept of Disease Prevention and
Treatment: A Giant Leap in Medical Genetics. Hereditary Genet. 2016;5:1.
02-02-2018
58
59. References
• FACT SHEET - Genes: What We Knew, Know, and Hope to Learn National
Institutes of Health. 2010
• Fact Sheet - Genetic Testing: How it is Used for Healthcare National
Institutes of Health. 2010
• Gender and Genetics. Available at:
http://www.who.int/genomics/gender/en/index1.html
• Sharma R. Birth defects in India: Hidden truth, need for urgent attention.
Indian J Hum Genet. 2013; 19(2): 125–9.
• Suryakantha AH. Community Medicine with Recent Advances. 4th Edition.
New Delhi: Jaypee Brothers;2017
• Park K. Textbook of Preventive and Social Medicine. 23rd Edition. Jabalpur:
Bhanot Publishers ;2017
• Ali M A. Genetic Technologies and Ethics. J Med Ethics Hist Med. 2009; 2:
11.
• Fact Sheet - Human Genome Project National Institutes of Health.2010. 02-02-2018
59
Before Polymorphic DNA Marker
Watson and Crick DNA model – 1953
Population based surveillances systems to monitor and control some Mendelian Disease – 1960
Statistical principles of linkage analysis were developed in the middle of the 20th century to identify genes or chromosomal regions that harboured disease mutations based on multiplex families
The linkage disequilibrium (genetic variants on the same chromosomes are genetically and spatially correlated in a population sample)
Pre – Genome Period
Discovery of polymorphic DNA markers
Linkage analysis approach - to handle both analysis of individual marker linkage and analyses that included multiple markers simultaneously
Moving from simple linkage theory to conducting genome wide linkage.
Genome-wide linkage studies
This era were based on families with rare mutation in a single gene that exerted a large effect on risk, roughly following Mendelian dominant or recessive patterns, this period could also have been termed the Mendelian era of genetic epidemiology
Recognize the utility of traditional epidemiologic design for genetic epidemiology
Use of SNP markers instead of simple tandem repeat markers
Post-Genome Period
Sequencing of Human Genome
Development of large SNP markers
Use of GWAS – genome wide association studies
GWAS –identifying genetic risk factors for complex disease since they are based on preselected DNA markers, they may not identify actual causal variants within a gene, but they do highlight which gene are consistently associated with risk for a given disease.
Difficult to identify a single specific genetic variant that can be targeted for the development of therapeutic interventions.
Increased ability to measure multiple types of DNA variation
Chromosomal diseases: occur when the entire chromosome, or large segments of a chromosome, is missing, duplicated or otherwise altered. Down Syndrome is a prominent example of a chromosomal abnormality.
Single-gene disorders: occur when an alteration occurs in a gene causing one gene to stop working. An example of a single gene disorder is sickle-cell anaemia.
Multifactorial disorders: occur as the result of mutations in multiple genes, frequently coupled with environmental causes. An example of a multifactorial disorder is diabetes.
Mitochondrial disorders: are rare disorders caused by mutations in non-chromosomal DNA located within the mitochondria. (The mitochondria are subcellular organelles.) These disorders can be found to affect any part of the body including the brain and the muscles.
Metagenomics represents a confluence of experimental and computational advances in genetic sciences and seem to envision medical microbiology from ecological viewpoint, according to which the functions of a given microbial organism and its impact on human organ systems depend on the context of other microbes harbouring the same community.
It provides insight to new ways of classifying disease states and tries to find, whether the variability in structural and functional configuration of microbial communities are a cause or a consequence of the disease.
Probiotic medication therapy involves capsulated administration of microbial species to individuals harbouring communities of microbial communities that have not developed into a mature fully functional state or that have been disturbed during infections and environmental disasters and epidemics.
Probiotics assist in digestion and boost the body’s immunity in diarrhoea and infections. There are probiotics that confer beneficial effect on the cardiovascular system
Metagenomics represents a confluence of experimental and computational advances in genetic sciences and seem to envision medical microbiology from ecological viewpoint, according to which the functions of a given microbial organism and its impact on human organ systems depend on the context of other microbes harbouring the same community.
It provides insight to new ways of classifying disease states and tries to find, whether the variability in structural and functional configuration of microbial communities are a cause or a consequence of the disease.
Probiotic medication therapy involves capsulated administration of microbial species to individuals harbouring communities of microbial communities that have not developed into a mature fully functional state or that have been disturbed during infections and environmental disasters and epidemics.
Probiotics assist in digestion and boost the body’s immunity in diarrhoea and infections. There are probiotics that confer beneficial effect on the cardiovascular system
Metagenomics represents a confluence of experimental and computational advances in genetic sciences and seem to envision medical microbiology from ecological viewpoint, according to which the functions of a given microbial organism and its impact on human organ systems depend on the context of other microbes harbouring the same community.
It provides insight to new ways of classifying disease states and tries to find, whether the variability in structural and functional configuration of microbial communities are a cause or a consequence of the disease.
Probiotic medication therapy involves capsulated administration of microbial species to individuals harbouring communities of microbial communities that have not developed into a mature fully functional state or that have been disturbed during infections and environmental disasters and epidemics.
Probiotics assist in digestion and boost the body’s immunity in diarrhoea and infections. There are probiotics that confer beneficial effect on the cardiovascular system