BIOTECH MO TO Flashcards
is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence.
Genetic Disorder
A genetic disorder happens when a gene (or genes) has a problem with its _____, and this causes a health problem
code
is a genetic condition where people are born with an extra chromosome specifically chromosome 21
Down Syndrome
Symptoms:
✓A flat nose bridge
✓Slanted eyes that point upward
✓A short neck
✓Small ears, hands and feet
✓Weak muscle tone at birth
✓Small pinky finger that points inward towards the thumb
✓One crease in the palm of their hand (palmar crease)
✓Shorter-than-average height
Down Syndrome
Treatment:
✓Physical or occupational therapy
✓Speech therapy
✓Participating in special education programs in school
✓Treating any underlying medical conditions
✓Wearing glasses for vision problems or assisted hearing devices for hearing loss
Down Syndrome
also known as Martin-Bell syndrome, is an inherited condition.
- It’s the most common form of inherited intellectual and developmental disability (IDD).
Fragile X Syndrome
Symptoms:
✓Low intelligence quotient (IQ).
✓Delayed early developmental milestones
✓Delayed development of nonverbal communication
✓Problems with math and Language processing
✓A long, narrow face
✓A large forehead and jaw
✓Soft skin and enlarged testicles
Fragile X Syndrome
Treatment:
Seizures or mood instability:
✓Lithium carbonate
✓Gabapentin (Neurontin®)
Fragile X Syndrome
Treatment:
ADHD:
✓Methylphenidate (Ritalin®, Concerta®) and Dextroamphetamine (Adderall®, Dexedrine®).
✓Venlafaxine (Effexor®) and Nefazodone (Serz one®)
Fragile X Syndrome
Fragile X Syndrome also known as
Martin-Bell syndrome
is a common genetic condition in which people assigned male at birth (AMAB) have an additional X chromosome
is a congenital condition (you’re born with it
Klinefelter Syndrome
Symptoms:
✓Breast Growth
✓Infertility
✓Osteoporosis
✓Learning Difficulties
Klinefelter Syndrome
Treatment:
✓usually involve physical and emotional therapy, as well as hormone replacement.
Klinefelter Syndrome
Chromosomal Disorders
Down Syndrome
Fragile X Syndrome
Klinefelter Syndrome
is a neurodevelopmental disorder
is a developmental disability caused by differences in your child’s brain
Autism Spectrum Disease (ASD)
Symptoms:
✓Often lines up toys or plays with toys the same way every time.
✓Must follow certain routines or has extreme reactions to small changes in routine.
✓Has obsessive or very unusual interests.
✓Has significant sensory aversions, like dislike of loud noises, dislike of how certain clothes fit or feel or
very picky eating.
✓Has sensory-seeking behaviors
Autism Spectrum Disease (ASD)
Treatment:
Behavioral interventions or therapies
Autism Spectrum Disease (ASD)
is a narrowing or blockage of your coronary arteries, which supply oxygen-rich
blood to your heart.
Coronary Artery Disease
Treatment:
✓Don’t smoke, vape or use any tobacco products
✓Eat heart-healthy foods low in sodium, saturated fat, trans fat and sugar
✓Mediterranean diet is a proven way to lower your risk of a heart attack or stroke
✓Exercise: Aim for 30 minutes of walking
✓Limit alcohol
Coronary Artery Disease
is much more than a bad headache
is a common neurological disease that causes a variety of symptoms
Migraine Headaches
Symptoms include:
✓Sensitivity to light, noise and odors
✓Nausea and vomiting, upset stomach and abdominal
pain
✓Loss of appetite
✓Feeling very warm (sweating) or cold (chills)
✓Pale skin color (pallor)
✓Feeling tired
✓Dizziness and blurred vision
✓Tender Scalp
Migraine Headaches
Treatment:
________________ are chronic. They can’t be cured, but they can be managed and possibly improved
Migraine Headaches
Multifactorial Disorders
Autism Spectrum Disease
Coronary Artery Disease
Migraine Headaches
is a genetic (inherited) disease that causes sticky, thick mucus to build up in organs, including your lungs and pancreas.
Cystic Fibrosis
Symptoms:
✓Failure to thrive
✓Loose or oily stools.
✓Trouble breathing
✓Recurrent wheezing
✓Frequent lung infections (recurrent pneumonia or bronchitis)
✓Recurrent sinus infections
✓A nagging cough
✓Slow growth
Cystic Fibrosis
Treatment:
The major focus of management is keeping your airways clear. Your provider will also prescribe medicine
when needed
Cystic Fibrosis
also called iron overload, is a condition in which your body stores too much iron
Hemochromatosis
Symptoms:
✓Fatigue
✓General weakness
✓Heart flutters or irregular heartbeat
✓Joint pain
✓Stomach pain
✓Unexplained weight loss
Hemochromatosis
Treatment:
✓Changes to your diet
✓Iron chelation therapy
Hemochromatosis
is a genetic condition that causes damage and, ultimately, the death of nerve cells (neurons) in your child’s brain and spinal cord
Tay-sachs Disease
Symptoms:
Early symptoms:
✓Muscle weakness
✓Difficulty turning over, sitting or crawling
✓Easily startled by loud noises
Continuous symptoms:
✓Involuntary muscle-twitching seizures
✓Difficulty swallowing
✓Vision loss
✓Hearing loss
✓Cherry-red spot on their eyes
✓Respiratory infections
Tay-sachs Disease
is a disease that leads to hearing loss and vision loss
Usher Syndrome
Symptoms:
✓ hearing loss
✓vision loss
✓balance problems
Usher Syndrome
Treatment:
✓Hearing aids
✓Cochlear implants
✓Vision aids
✓ Vitamin A supplements
Usher Syndrome
are a group of conditions that affect how mitochondria work in your body.
Mitochondrial Diseases
Symptoms:
✓Poor growth
✓Muscle weakness, muscle pain or a low muscle tone
✓Vision and/or hearing loss
✓Developmental delays or issues with cognitive development
✓Diarrhea or constipation
✓Unexplained vomiting
✓Acid reflux and/or swallowing difficulties
✓Seizures
✓Migraines
✓Respiratory (breathing) problems
✓Fainting
Mitochondrial Diseases
Treatment:
✓Taking medications to reduce symptoms
✓Taking vitamins or supplements
✓Changing your diet (nutrition) and exercising.
✓Physical therapy, occupational therapy or speech therapy.
✓Wearing assistive devices like hearing aids
Mitochondrial Diseases
play a crucial role in healthcare by collecting, testing, and storing blood for transfusions and other medical procedures.
Blood banks
THE ROLE OF GENETICS IN BLOOD BANKING
- Variability in Blood Types
- DNA Sequencing and Typing
- Genetic Engineering Applications
BIOTECHNOLOGY TECHNIQUES USED IN BLOOD BANKING
- Molecular Diagnostics
- Pathogen Inactivation
- Bioinformatics in Blood Research
Biotechnology enables the use of ____ tools to enhance the accuracy and efficiency of blood screening, leading to improved safety and quality of blood products.
Molecular Diagnostics
Modern biotechnology methods allow for the development of innovative ____ techniques, ensuring that donated blood is free from infectious agents and safe for transfusion
Pathogen Inactivation
Biotechnology contributes to the analysis of large-scale genomic and proteomic data opening opportunities for significant advancements in blood-related research and therapeutic discoveries.
Bioinformatics in Blood Research
Various blood typing techniques, including ABO and Rh typing, are employed to determine the specific blood group of donors and recipients for safe transfusions.
Blood Typing Methods
Various blood typing techniques, including ______, are employed to determine the specific blood group of donors and recipients for safe transfusions.
ABO and Rh typing
Cross-matching verifies compatibility between the donor’s blood and the recipient’s blood, ensuring that transfusions will not lead to adverse reactions.
Cross-Matching Procedures
______ verifies compatibility between the donor’s blood and the recipient’s blood, ensuring that transfusions will not lead to adverse reactions.
Cross-Matching
Advancements in biotechnology have led to the development of rapid and accurate blood typing and cross-matching technologies, accelerating the transfusion process in critical situations
Rapid Testing Innovations
Donor Recruitment and Screening
- Donor Eligibility Criteria Screening
- Behavioral Assessments
- Donor Recruitment Strategies
BLOOD STORAGE AND TRANSPORTATION
- Optimal Storage Conditions
- Specialized Transport Solutions
- Cold Chain Management
EMERGING TRENDS IN BLOOD BANKING
Automation and Robotics
Nanotechnology Applications
Integration of _______ streamlines blood processing tasks, leading to increased efficiency and reduced human errors
Automation and Robotics
Nanotechnology advancements offer potential solutions for targeted drug delivery and the development of novel blood products with enhanced therapeutic properties
Nanotechnology Applications
CONCLUSION AND FUTURE DIRECTIONS (BLOOD BANKING)
- Personalized Blood Therapies
- Quality Enhancement Strategies
- Global Collaboration for Blood Research
typically involves analyzing DNA samples from the alleged father, child, and sometimes the mother to assess genetic similarities and confirm or exclude paternity with a high degree of accuracy
PATERNITY TESTING
Process of Paternity Testing
- Sample Collection
- Isolation DNA
- DNA Analysis
- Comparison
- Results
- Reports
Principles of Paternity Testing
based on Genetic Inheritance and DNA analysis
Children inherit half of their genetic material from each parent
Inheritance of Genetic Material
Paternity testing relies on identifying specific ___________ or regions of DNA that are known to vary among individuals
Genetic Markers
Each individual has a unique DNA profile, except for identical twins who share the same genetic makeup.
Uniqueness of DNA
- The analysis calculates the probability of paternity based on the observed genetic similarities
Probability Calculation
Accredited laboratories follow stringent protocols to ensure accuracy and reliability of results.
Accuracy and Reliability
Paternity testing adheres to Mendelian laws of inheritance
Consistency with Mendelian Laws
- Including the mother’s DNA in the testing process helps refine the analysis by eliminating her contribution to the child’s genetic makeup
Inclusion of Mother’s DNA (if available)
Several types of Paternity Testing
*Standard DNA Paternity Test
*Legal Paternity Test
*Home DNA Paternity Test
*Non-Invasive Prenatal Paternity Testing
*Y-Chromosome Testing
*Grandparentage Testing
*Sibling DNA Test
This involves comparing the child’s DNA with that of the alleged father and, if available, the mother
Standard DNA Paternity Tesing
Similar to the standard DNA paternity test, but the sample collection is conducted with strict chain-of-custody procedures.
Legal Paternity Test
While convenient, results from home tests may not be admissible in legal proceedings due to potential sample contamination or mishandling
Home DNA Paternity Test
This test analyzes the baby’s DNA found in the mother’s blood during pregnancy.
Non-Invasive Prenatal Paternity Testing
This focuses on the Y-chromosome passed from father to son.
Y-Chromosome Testing
In cases where the alleged father is unavailable, testing the DNA of the paternal grandparents can provide indirect evidence of paternity
Grandparentage Testing
This test is used when alleged siblings want to confirm if they share the same biological father.
Sibling DNA Test
EXAMPLES OF PATERNITY TESTING
- Buccal Swab Test
- Blood Test
- DNA Test
- Non- invasive Prenatal Paternity Test
- Home DNA testing kits
Cancer Diagnosis
- Imaging Techniques
2.Biopsy and Histopathology - Blood Test and Tumor Markers
Cancer Treatment
- Surgery
- Radiation Therapy
- Chemotherapy
- Immunotherapy
- Targeted Therapy
Imaging Techniques (Cancer Diagnosis)
Computed Tomography (CT) Scan
Magnetic Resonance Imaging (MRI)
Positron Emission Tomography (PET) Scan
Ultrasound Imaging
X-ray Imaging
Biopsy and Histopathology (Cancer Diagnosis)
Biopsy
Histopathology
Fine Needle Aspiration (FNA)
Frozen Section Biopsy
Immunohistochemistry
Blood Tests and Tumor Markers (Cancer Diagnosis)
Complete Blood Count (CBC)
Blood Chemistry Tests
Tumor Markers
Genomic Testing
Liquid Biopsy
Surgery (Cancer Treatment)
Primary Tumor Resection
Lymph Node Dissection
Debulking Surgery
Reconstructive Surgery
Palliative Surgery
Radiation Therapy (Cancer Treatment)
External Beam Radiation Therapy
Internal Radiation Therapy (Brachytherapy)
Intensity-Modulated Radiation Therapy (IMRT)
Stereotactic Body Radiation Therapy (SBRT)
Adjuvant and Neoadjuvant Radiation Therapy
Chemotherapy (Cancer Treatment)
Description of Chemotherapy
Mechanisms of Action
Types of Chemotherapy Agents
Administration and Treatment Regimens
Side Effects and Supportive Care
Immunotherapy (Cancer Treatment)
Checkpoint Inhibitors
Monoclonal Antibodies
CAR-T Cell Therapy
Cytokine Therapies
Vaccines
Targeted Therapy (Cancer Treatment)
Description of Targeted Therapy
Molecular Targets
Types of Targeted Therapy
Examples of Targeted Drugs
Challenges and Future Directions
Genetic engineering modifies an organism’s genetic material to treat or prevent diseases, through the introduction, removal, or alteration of genetic material.
Gene Therapy
It is a promising field of science that could revolutionize healthcare and provide new treatments for previously untreatable conditions, especially genetic disorders
Gene Therapy
Types of Gene Therapy
SOMATIC GENE THERAPY
GERMLINE GENE THERAPY
- Involves modifying genes in the body’s somatic cells (non-reproductive cells).
- Effects are limited to the treated individual and are not passed on to offspring
Somatic Gene Therapy
- Targets reproductive cells, aiming to introduce genetic changes that are heritable.
- Raises ethical concerns due to the potential impact on future generations
Germline Gene Therapy
Gene therapy aims to deliver a normal copy of the CFTR gene, which is mutated in people with _____, to the cells that line the airways and produce mucus
Cystic Fibrosis
Gene therapy aims to deliver a functional copy of the F8 or F9 gene, which encode the clotting factors VIII or IX, to the liver cells that produce them.
Hemophilia
Gene therapy aims to correct the mutation in the HBB gene, which encodes the beta-globin protein, a component of hemoglobin, the oxygen-carrying molecule in red blood cells.
Sickle Cell disease
Gene therapy aims to deliver a normal copy of the RPE65 gene, which is mutated in some forms
of inherited retinal dystrophy, to the retinal pigment epithelium cells, which support the
photoreceptors in the retina.
Inherited retinal dystrophy
is a revolutionary gene-editing tool. It’s like the molecular scissors of genetic engineering.
CRISPR-CAS9 FOR GENETIC MODIFICATION
(Clustered Regularly Interspaced Short Palindromic Repeats and CRISPR-associated protein 9)
How it works? (CRISPR-CAS9 FOR GENETIC MODIFICATION)
CRISPR-Cas9 allows scientists to precisely target and modify specific genes within an organism’s DNA. It
does this by using a guide RNA molecule to find the target gene and Cas9, a protein, to cut the DNA at
the desired location. The cell’s natural repair machinery then kicks in to make the desired genetic
change
Applications (CRISPR-CAS9)
CRISPR-Cas9 has myriad applications, from creating genetically modified crops with improved traits to
researching potential therapies for genetic diseases. Its precision and versatility have opened up a new
era of genetic manipulation
A number of different viruses can be used to transport foreign genetic material into cells and the most successful ____ are described in the following sections
Viral Agents
_________ can transduce both dividing and non-dividing cells, carry large transgenes, and provide stable and long-term gene expression.
They are mainly used for cell and stem cell therapies. However, they also pose some safety risks, such as insertional mutagenesis, oncogenesis, and accidental exposure to HIV
Lentiviruse
________ can transduce a wide range of cell types, carry medium-sized transgenes, and
provide high-level and transient gene expression.
They are mainly used for vaccine development, cancer therapy, and gene editing. However, they also have some drawbacks, such as high immunogenicity, toxicity,and inflammation
Adenoviruses
___________________ viruses can transduce both dividing and non-dividing cells, carry small transgenes, and provide stable and low-level gene expression.
They are mainly used for gene therapy of monogenic diseases. They have some advantages, such as low immunogenicity, high specificity, and stable integration. However, they also have some limitations, such as package size, variability of response, and durability of effect
Adeno-associated viruses
There are a number of different non-viral methods of gene therapy but the most popular is liposome-mediated DNA transfer. This has the theoretical advantage of not eliciting an immune response, being safer and simpler to use as well as allowing large-scale production, but efficacy is limited
Non-viral agents
is a non-viral method of gene delivery that uses lipid-based vesicles to encapsulate and transport DNA molecules into cells.
has some theoretical advantages over viral vectors, such as low immunogenicity and toxicity, high gene loading capacity and flexibility, and easy and scalable production.
Liposome-mediated DNA transfer
also faces some limitations, such as low transfection efficiency and stability, poor endosomal escape and nuclear entry, and lack of long-term expression
Liposome-mediated DNA transfer
