BIOTECH MO TO Flashcards by Wayne Glaiza Mappala

is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence.

Genetic Disorder

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A genetic disorder happens when a gene (or genes) has a problem with its _____, and this causes a health problem

code

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is a genetic condition where people are born with an extra chromosome specifically chromosome 21

Down Syndrome

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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

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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

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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

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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

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Treatment:
Seizures or mood instability:
✓Lithium carbonate
✓Gabapentin (Neurontin®)

Fragile X Syndrome

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Treatment:
ADHD:
✓Methylphenidate (Ritalin®, Concerta®) and Dextroamphetamine (Adderall®, Dexedrine®).
✓Venlafaxine (Effexor®) and Nefazodone (Serz one®)

Fragile X Syndrome

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Fragile X Syndrome also known as

Martin-Bell syndrome

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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

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Symptoms:
✓Breast Growth
✓Infertility
✓Osteoporosis
✓Learning Difficulties

Klinefelter Syndrome

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Treatment:
✓usually involve physical and emotional therapy, as well as hormone replacement.

Klinefelter Syndrome

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Chromosomal Disorders

Down Syndrome
Fragile X Syndrome
Klinefelter Syndrome

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is a neurodevelopmental disorder

is a developmental disability caused by differences in your child’s brain

Autism Spectrum Disease (ASD)

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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)

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Treatment:
Behavioral interventions or therapies

Autism Spectrum Disease (ASD)

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is a narrowing or blockage of your coronary arteries, which supply oxygen-rich
blood to your heart.

Coronary Artery Disease

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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

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is much more than a bad headache

is a common neurological disease that causes a variety of symptoms

Migraine Headaches

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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

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Treatment:
________________ are chronic. They can’t be cured, but they can be managed and possibly improved

Migraine Headaches

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Multifactorial Disorders

Autism Spectrum Disease
Coronary Artery Disease
Migraine Headaches

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is a genetic (inherited) disease that causes sticky, thick mucus to build up in organs, including your lungs and pancreas.

Cystic Fibrosis

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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

1. Variability in Blood Types 2. DNA Sequencing and Typing 3. Genetic Engineering Applications

BIOTECHNOLOGY TECHNIQUES USED IN BLOOD BANKING

1. Molecular Diagnostics 2. Pathogen Inactivation 3. 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

1. Donor Eligibility Criteria Screening 2. Behavioral Assessments 3. 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

1. Sample Collection 2. Isolation DNA 3. DNA Analysis 4. Comparison 5. Results 6. 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

1. Buccal Swab Test 2. Blood Test 3. DNA Test 4. Non- invasive Prenatal Paternity Test 5. Home DNA testing kits

Cancer Diagnosis

1. Imaging Techniques 2.Biopsy and Histopathology 3. Blood Test and Tumor Markers

Cancer Treatment

1. Surgery 2. Radiation Therapy 3. Chemotherapy 4. Immunotherapy 5. 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

BIOTECH MO TO Flashcards

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