Thursday, 27 December 2018

Human Genetics and Genetic Diseases



Human Genetics is the branch of genetics which involves the study of inheritance that occurs in humans. It includes various subfields such as classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, development genetics, clinical genetics, and genetic counseling. Study on human genetics, can explain the human nature, understand and development of effective treatment for diseases.

  • Genomics
  • Genetic Differences and Inheritance Patterns
  • Population Genetics
  • Evolutionary Genetics
  • Mitochondrial DNA
  • Genomics


Genetic Disorder may be caused as a result of new mutation or changes that occur in DNA. It is also a hereditary disease that is caused by parent gene. Mostly it caused due to the abnormalities in the genome. Genetic disorders are classified into different types depending upon single gene or multiple genes. Around 4000 disease are categorized as single gene defect. Some of the multifactorial disorders include heart diseases and diabetes. Some of the common diseases are asthma, Diabetes, Hypertension, and Obesity.

  • Diagnosis of the Genetic Disorder
  • Gene Therapy
  • Inborn Errors of Metabolism
  • Prognosis of the Genetic Disorder

Some of the Common Genetic Disorder:
  • Breast Cancer
  • ADA Immune Deficiency
  • Cystic Fibrosis
  • Down Syndrome
  • Alzheimer Disease
  • Duchenne Muscular Dystrophy
  • Ectrodacytly
  • Fragile X Syndrome
  • Hemophilia
  • Hunter Syndrome
  • Jackson-Weiss Syndrome
  • Melanoma
  • Muscular Dystrophies
  • Retinoblastoma
  • Neurofibromatosis
  • Gaucher Disease
  • Retinoblastoma
  • Inherited Arrhythmia Disorders
  • Severe Combined Immunodeficiency Disorder (SCID)
  • Werner Syndrome
  • Lysosomal Storage Disease
  • Sickle Cell Anaemia
  • Tay-Sachs
  • Thalassemia
  • Tunner Syndrome

Track 03 # : GENOMICS

Genomics is the field of genetics which deals with the study of structure, function, evolution, mapping, and editing of genomes. Genomics involves the sequencing and analysis of genomes using DNA sequencing and bioinformatics to assemble and analyze the function and structure of entire genomes.

Advancement in genomics made a transformation in discovery-based research and systems biology to understand complex biological systems such as the brain.

  • Functional Genomics
  • Epigenomics
  • Metagenomics
  • Applications of Genomics -  Genomic medicine, Conservation Genomics
  • Structural Genomics


Sickle-cell disease (SCD) is a group of blood disorders typically inherited from an individual's parents. Amongst all, the most type is known as sickle-cell anaemia (SCA). An abnormality in the oxygen-carrying protein haemoglobin (haemoglobin S) found in red blood cells is seen in SCD. This mainly leads to a rigid, sickle-like shape under certain circumstances. Sickle cell disease Problems typically begin around 5 to 6 months of age. Sickle-cell disease caused due to when inheritance two abnormal copies of the haemoglobin gene, one from each parent. This gene present in chromosome 11. Various subtypes exist, depending on the exact mutation in each haemoglobin gene. An attack can get started with temperature changes, stress, dehydration, and high altitude.

  • Genetics of Sickle Cell Anaemia
  • Signs and Symptoms
  • Pathophysiology of Sickle-Cell Disease
  • Diagnosis of Sickel Cell Diseases

Track 05 # : THALASSEMIA

Thalassemia is characterized as an abnormal hemoglobin producing condition. It is a type of inherited blood disorders. Symptoms are mild to severe anemia due to low red blood cells count. Anemia can make one feel tired and have pale skin. Bone problems, an enlarged spleen, yellowish skin, dark urine, among children slow growth are other related symptoms or Thalassemia.

There are two main types in Thalassemia, alpha Thalassemia, and Beta Thalassemia. Diagnosis is done by blood tests including a complete blood count, special haemoglobin tests, and genetic tests. Diagnosis can also be done before birth by prenatal testing.

  • Prevention
  • Management of Thalassemia
  • Signs and Symptoms
  • Pathophysiology


Medical Genetics is a branch of medicine that involve diagnosis and management of genetic disorders. Slightly medical genetics and human genetics differ in certain ways, where human genetics is a field of scientific research which may or may not apply to medicine but medical genetics depend on the applications of genetics to medical care.

  • Genetic Medicine - Gene Theraphy, Personalized Medicine and Predictive Medicine
  • Genetic Counselling
  • Subspecialities -  Clinical genetics, Metabolic/Biochemical genetics, Cytogenetics, Molecular Genetics, Mitochondrial Genetics
  • Diagnostic Evaluation - Chromosome Studies, Basic Metabolic Studies, Molecular Studies


Human evolutionary genetics explain how one human genome will differ from another human genome, from where the evolutionary past arrived that gave rise to it, and also its the current effects. This disparity between the genomes has anthropologival, historical, medical and forensic implication and applications. Genetic data can provide important insight into human evolution. It helps one to understand the differences in the human genome and learn about how evolution has affected the development of the genome and acquired diversity. 

  • FOXP2 and Human Evolution
  • Genetic Genealogy
  • Archaegenetics
  • Human Genetic Variation
  • Race and Genetics


It is a type of genetic engineering which involves addition, deletion, and insertion or modification of genome in an organism. The common thing in this research is to modify DNA sequence and observe the changes on the organism. This method is known as reverse genetics where it is vice versa to forward genetics in which the phenotype will be observed first and genetics of the organism will be studied later.

  • Gene Therapy
  • Site-Directed Mutagenesis
  • Role of CRISPR in Genome Editing
  • Eradicating Diseases


Cancer genetics studies about the heritable gene variants in humans and other animals that causes the change in risk of tumour or haematological malignancy. An Individual cancer risk varies and is influenced by familial and sporadic oncogene or tumour suppressor gene mutations as well as rare and common constitutional variants present in the population. For many years, cancer genetics has mainly focused on mutational events which hae their own primary effect within the cancer cell.

  • Molecular Diagnostics for Cancer
  • Next Generation Sequencing in Cancer
  • Cancer Pharmacogenetics
  • Cancer Epigenetics
  • Cancer Genome Sequencing
  • Cancer Genomics

Track 10 # : EPIGENETICS

Epigenetics is a biological mechanism exhibiting functionally relevant changes to the genome that does not involve changes in the DNA sequences. Epigenetics controls the gene expression through the action of repressor protein that attaches to silencer regions of the DNA, switching between turn on and off of a gene, leading to alteration in the chromosomal regions.

  • Epigenetic Modifications in Cardiovascular Disease
  • Epigenetic Therapy
  • Epigenetics of Neourodegenerative Diseases
  • Nutriepigenomics
  • Behavioral Epigenetics
  • Computational Epigenetics


Bioinformatics is an interdisciplinary subject that develops methods and software tools for the understanding concept of biological data. As an interdisciplinary field of science, bioinformatics is a combination of biology, computer science, mathematics and statistics to analyze and interpret the biological data. Using mathematical and statistical techniques, in silico analyses of biological queries is carried out in Bioinformatics.

  • Cancer Computational Biology
  • Comparative Genomics
  • Novel Bioinformatics/Computational Tools and Methods
  • Computational Epigenetics
  • Computational Evolutionary Biology
  • Computational Phylogenetics
  • Comparative Genomics


DNA sequencing is the process of determining the actual order of nucleotide (Adenine, Guanine, Cytosine, and thymine) within a DNA molecule. THis technique is used in various fields such as medical diagnosis, biotechnology, forensic biology, virology, and biological systematics and anthropology.

  • Basic methods - Maxam - Gilbert Sequencing, Chain-Termination Methods
  • Advanced Methods and De Novo Sequencing -
  1. Bridge PCR
  2. Shotgun Sequencing
  • High - Throughput Methods -
  1. Massively Parallel Signature Sequencing (MPSS)
  2. Polony Sequencing
  3. 454 Pyrosequencing
  4. Ilumina (Solexa) Sequencing
  5. Solid Sequencing
  6. Ion Torrent Semiconductor Sequencing, DNA Nanoball Sequencing
  7. Heliscope Single Molecule Sequencing
  8. Single Molecule Real Time (SMRT) Sequencing
  9. Nanopore DNA Sequencing
  • Methods in Development-
  1. Tunnelling Currents DNA Sequencing
  2. Sequencing by Hybridization
  3. Microfluidic Sanger Sequencing
  4. RNAP Sequencing
  5. In Vitro Virus High-Throughput Sequencing
  • Cancer Genome Sequencing
  1. Microscopy-Based Techniques
  2. Sequencing with Mass Spectrometry


Immunogenetics is under a division of medical genetics that exploits the relationship between the genetics and the immune system. Type 1 diabetes is an Autoimmune disease, it has complex genetic traits which result due to defects in the immune system. New target genes for therapeutic approaches are identified by identification of genes defining the immune defects. Alternatively, by making use of genetic variation the immunological pathway leading to disease is defined. It highlights the emerging technical and various conceptual breakthrough that pitch for mechanisms of anti-donor responses.

  • The immunogenetics of Neurological Disease
  • Bone Involvement in Monogenic Autoinflammatory Syndromes
  • Immune-Suppressive Effects of Interleukin-6
  • Mechanisms behind TB, HBV, and HIV Chronic Infections
  • Immunoglobulin Genotypes and Cognitive Functions


Pharmacogenomics is the study dealing with the response of an individual with respect to their genome to the administered drugs. As the name suggests it is the combination of two different fields that is pharmacology and genomics. Pharmacogenomics is often used interchangeably with pharmacogenetics. Adverse drug reactions are a significant cause of hospitalizations and deaths in many countries.

  • Chemogenomics
  • Personalized Medicine
  • Toxicogenomics
  • Clinical Pharmacogenetics
  • Pharmacogenetics in Cardiovascular Medicine

Track 15 # : GENE MUTATION

A gene mutation happens due to permanent alteration in the DNA sequence that makes up a gene, in a way that the sequence differs from what is found in most of the normal individual. Mutations range in size, they can affect anywhere from a single DNA base pair to a large segment of a chromosome, one including multiple genes. It can be classified in two major ways that is hereditary mutations and acquired mutations.

  • Induced Mutations
  • Next generation Panel Sequencing
  • Site-Directed Mutagenesis
  • Autoinflammatory Disease Genes in Gene Mutation


Behavioural genetics is the branch of genetics which deals with the study of behaviour of an organism. It also differentiates behaviour of different organism depending upon the genetics. Behavioural genetic studies have extensively impacted cutting-edge know-how the role of genetic and environmental impacts on behaviour. Different methodology involved are Animal studies, Twin and family studies, Quasi-experimental designs.

  • Quantitative Genetics
  • Evolutionary Psychology
  • Genes, Brain and Behaviour
  • Human Behaviour Genetics
  • Psychiatric Genetics


Use of Stem cells for the treatment and prevention of diseased condition is categorized under stem cell therapy. Bone marrow transplant is found to be most widely used among various stem-cell therapies. Some stem cell therapies were acquired by using umbilical cord blood. Stem-cell therapy has turned into a controversial trailing to the developments where scientists are able to isolate and culture embryonic stem cells, to create stem cells using somatic cell nuclear transfer and their use of techniques to create induced pluripotent stem cells. These controversies often comprehend abortion politics and to human cloning. Stem cell therapy has been exploited for treatments of neuorodegenerative diseases and conditions such as diabetes and heart disease.

  • Role of Stem Cells in Cancer
  • Drug Discovery and Biomedical Research
  • Hematopoietic Stem Cell Transplantation
  • Regenerative Treatment Models


Neurogenetics is the branch of genetics which studies the development and function of nervous system. Many neurological disorders like Alzheimer's and Parkinson's diseases can be related to neurogenetics and the research of genetics on neurological disorder are still on going.

  • Current Research
  • Gene Sequencing
  • Neurological Disorders- Alzheimer's Disease and Parkinson's Disease
  • Methods of Research
  • Behavioral Neurogenetics


Genetic counseling is the technique by which the patients or family liable to an inherited disease are counselled of the results and nature of the sickness, the possibility of growing or transmitting it, and the options open to them in management and family planning. This complicated procedure may be separated into diagnostic (the real estimation of threat) and supportive factors.

  • Reprogenetics
  • Genomic Counceling
  • Whole Genome Sequencing
  • Genetic Counsellors


Nutrigenomics is a department of nutritional genomics and is the study of the consequences of ingredients and food parts on gene expression. It is a area or research focusing on figuring out and knowledge molecular-level interaction between vitamins and different nutritional bioactives with the genome.

  • Anti-Aging
  • Public Health Genomics
  • Background and Preventive Health


Regenerative medication is the department of translational studies which involves the method of replacing, engineering or regenerating human cells, tissues or organs to restore or set up regular function. This area holds the promise of engineering broken tissues and organs via stimulating the frame's very own restore mechanisms to functionally heal formerly irreparable tissues or organs

  • Biomedicine
  • Regeneration in Humans
  • Anti-Aging medicine
  • Stem Cell Treatments

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@ Jackie San

Sunday, 23 December 2018

STDs how to prevent ?

STDs ?

STDs are sexually transmitted diseases. This means they are most often, but not exclusively- spread by sexual intercourse. Genital herpes, gonorrhoea, some forms of hepatitis, syphilis, trichomoniasis, HIV, chlamydia are STDs. 

STDs used to be called venereal diseases or VD. They are among the most common contagious an incurable STD. STDs are serious illnesses that require treatment. Some STDs, such as HIV, cannot be cured and can be deadly. By learning more about STDs, you can learn ways to protect yourself. 

You can get a STD from anal, oral sex or vaginal. You can also be infected with trichomoniasis through contact with damp or moist objects such as towels, wet clothing or toilet seats, although it is more commonly spread by sexual contact. You are at high risk if:

# You have sex with someone who has had may partners.

# You have more than one sex partner.

# You don't see needles when injecting intravenous drugs.

# You trade sex for money or drugs.

STDs Causes ?
STDs include just about every kind of infection. Bacterial STDs include gonorrhoea, syphilis and chlamydia. Viral STDs include HIV, genital herpes, genitar warts (HPV) and hepatitis B. Trichomoniasis is caused by a parasite.

The germs that cause STDs hide in semen, blood, vaginal secretions and sometimes saliva. Most of the organisms are spread by vaginal, anal or oral sex, but some, such as those that cause genital herpes and genital warts, may be spread through skin contact. You can get hepatitis B by sharing personal items, such as toothbrushes or razors, with someone who has it.

STDs Symptoms ?
It's possible to contract an STD without developing symptoms. But some STDs cause obvious symptoms. In men, common symptoms include:

>> pain or discomfort during sex or urination

>> sores, bumps, or rashes on or around the penis, testicles, anus, buttocks, thighs, or mouth

>> unusual discharge or bleeding from the penis

>> painful or swollen testicles.

In many cases, STDs don't cause noticeable symptoms. When they do, common STD symptoms in women include:

>> pain or discomfort during sex or urination (similar to men)

>> sores, bumps, or rashes on or around the vagina, anus, buttocks, thighs or mouth

>> unusual discharge or bleeding from the vagina

>> itchiness in or around the vagina.

STDs Types ?
Many different types of infections can be transmitted sexually. The most common STDs are described below.

1 -  Chlamydia

A certain type of bacteria causes chlamydia. It's the most commonly reported STD among Americans, notes the Centers for Disease Control and Prevention (CDC).

Many people with chlamydia have no noticeable symptoms. When symptoms do develop, they often include:

>> pain or discomfort during sex or urination

>> green or yellow discharge from the penis or vagina

>> pain in the lower abdomen.

If left untreated, chlamydia can lead to:

>> infections of the urethra, prostate gland, or testicles.

>> pelvic inflammatory disease

>> infertility.

If a pregnant woman has untreated chlamydia, she can pass it to her baby during birth. The baby may develop:

> pneumonia
> eye infections
> blindness

Antibiotics can easily treat chlamydia.

2 -  Gonorrhea

Gonorrhea is another common bacterial STD. It's also known as "the clap".

Many people with gonorrhoea develop no symptoms. But when present, symptoms many include:

> A white, yellow, beige, or green-colored discharge from the penis or vagina.

> Itching around the genitals.

> pain or discomfort during sex or urination.

> More frequent urination than usual

> Sore throat.

If left untreated, gonorrhoea can lead to:

> Infections of the urethra, prostate gland, or testicles.

> Pelvic inflammatory disease

> Infertility

It's possible for a mother to pass gonorrhoea onto a newborn during childbirth. When that happens, gonorrhoea can cause serious health problems in the baby. That's why many doctors encourage pregnant women to get tested and treated for potential STDs. Gonorrhea can usually be treated with antibiotics.

3 -  HPV (Human Papillomavirus)

Human papillomavirus (HPV) is a virus that can be passed from one person to another through intimate skin-to-skin or sexual contact. There are many different strains of the virus. Some are more dangerous than others.

The most common symptom of HPV is warts on the genitals, mouth or throat.

Some strains of HPV infection can lead to cancer, including:

> Oral cancer

> Cervical cancer

> Vulvar cancer

> Penile cancer

> Rectal cancer

While most cases of HPV don't become cancerous, some strains of the virus are more likely to cause cancer than others. According to the National Cancer Institute, most cases of HPV-related cancer in the United States are caused by HPV 16 and HPV 18. These two strains of HPV account for 70 % of all cervical cancer cases.

There's no treatment for HPV. However, HPV infections often clear up on their own. There's also a vaccine available to protect against some of the most dangerous strains, including HPV 16 and HPV 18.

4 -  HIV

HIV can damage the immune system and raise the risk of contracting other viruses or bacteria and certain cancers. If left untreated, it can lead to stage 3 HIV, known as AIDs. But with today's treatment, many people living with HIV don't ever develop AIDs.

In the early or acute stages, it's easy to mistake the symptoms of HIV with those of the flu. For example, the early symptoms can include:

> Fever

> Chills

> Aches and pains

> Swollen lymph nodes

> Sore throat

> Headache

> Nausea

> Rashes

These initial symptoms typically clear within a month or so. From that point onward, a person can carry HIV without developing serious or persistent symptoms for many years. Other people may develop nonspecific symptoms, such as:

> Recurrent fatigue

> Fevers

> Headaches

> Stomach issues

There's no cure for HIV yet, but treatment options are available to manage it. Early and effective treatment can help people with HIV live as long as those without HIV.

Proper treatment can also lower your chances of transmitting HIV to a sexual partner. In fact, treatment can potentially lower the amount of HIV in your body to undetectable levels. At undetectable levels, HIV can't be transmitted to other people, reports the CDC.

Without routine testing, many people with HIV don't realize they have it. To promote early diagnosis and treatment, the CDC recommends that everyone between the ages of 13 and 64 be tested at least once. People at high risk of HIV should be tested at least once a year, even if they don't have symptoms.

Free and confidential testing can be found in all major cities and many public health clinics. 

5 -  Pubic lice ('crabs')

"Crabs" is another name for pubic lice. They're tiny insects that can take up residence on your pubic hair. Like head lice and body lice, they feed on human blood.

Common symptoms of pubic lice include:

> Itching around the genitals or anus

> Small pink or red bumps around the genitals or anus

> Low-grade fever

> lack of energy

> Irritability

You might also be able to see the lice or their tiny white eggs around the roots of pubic hair. A magnifying glass can help you spot them.

If left untreated, pubic lice can spread to other people through skin-to-skin contact or shared clothing, bedding, or towels. Scratched bites can also become infected. It's best to treat pubic lice infestations immediately.

If you have pubic lice, you can used over-the-counter topical treatments and tweezers to remove them from your body. It's also important to clean your clothes, bedding, towels and home. 

6 -  Trichomoniasis

Trichomoniasis is also known as "trich". It's caused by a tiny protozoan organism that can be passed from one person to another through genital contact.

According to the CDC, less than one-third of people with trich develop symptoms. When symptoms do develop, they may include:

> Discharge from the vagina or penis

> Burning or itching around the vagina or penis

> Pain or discomfort during urination or sex

> Frequent urination

In women, trich-related discharge often has an unpleasant or "fishy" smell.

If left untreated, trich can lead to:

> Infections of the urethra

> Pelvic inflammatory disease

> Infertility

Trich can be treated with antibiotics. 

7 -  Herpes

Herpes is the shortened name for the herpes simplex virus (HSV). There are two main strains of the virus, HSV-1 and HSV-2. Both can be transmitted sexually. It's a very common STD. The CDC estimates more than 1 out of 6 people ages 14 to 49 have herpes in the United States.

HSV-1 primarily causes oral herpes, which is responsible for cold sores. However, HSV-1 can also be passed from one person's mouth to another person's genitals during oral sex. When this happens, HSV-1 cause genital herpes.

HSV-2 primarily causes genital herpes.

The most common symptom of herpes is blistery sores. In the case of genital herpes, these sores develop on or around the genitals. In oral herpes, they develop on or around the mouth.

Herpes sores generally crust over and heal within a few weeks. The first outbreak is usually the most painful. Outbreaks typically become less painful and frequent over time.

If a pregnant woman has herpes, she can potentially pass it to her fetus in the womb or to her newborn infant during childbirth. This so-called congenital herpes can be very dangerous to newborns. That's why it's beneficial for pregnant women to become aware of their HSV status.

There's no cure for herpes yet. But medications are available to help control outbreaks and alleviate the pain of herpes sores. The same medications can also lower your chances of passing herpes to your sexual partner.

Effective treatment and safe sexual practices can help you lead a comfortable life with herpes and protect others from the virus.

Other STDs
Other, less common STDs include:

> Chancroid
> Lymphogranuloma venereum
> Granuloma inguinale
> Molluscum contagiosum
> Scabies

STDs Diagnosis ?
In most cases, doctor can't diagnose STDs based on symptoms alone. If your doctor or other healthcare provider suspects you might have an STD, they'll likely recommend tests to check.

Depending on your sexual history, your healthcare provider might recommend STD testing even if you don't have symptoms. This is because STDs don't cause noticeable symptoms in many cases. But even symptom-free STDs can cause damage or be passed to other people.

Healthcare providers can diagnose most STDs using a urine or blood test. They may also take a swab of your genitals. If you've developed any sores, they may take swabs of those, too.

You can get tested for STDs at your doctor's office or a sexual health clinic.

Home testing kits are also available for some STDs, but they may not always be reliable. Use them with caution. Check to see if the U.S. Food and Drug Administration has approved the testing kit before buying it.

It's important to know that a Pap smear isn't an STD test. A Pap smear checks for the presence of precancerous cells on the cervix. While it may also be combined with an HPV test, a negative Pap smear doesn't mean you don't have any STDs.

If you've had any type of sex, it's a good idea to ask your healthcare provider about STD testing. Some people may benefit from more frequent testing than others.

STDs Treatment
The recommended treatment for STDs varies, depending on what STD you have. It's very important that you and your sexual partner be successfully treated for STDs before resuming sexual activity. Otherwise, you can pass an infection back and forth between you.

STDs Bacterial
Usually, antibiotics can easily treat bacterial infections.

It's important to take all your antibiotics as prescribed. Continue taking them even if you feel better before you finish taking all of them. let your doctor know if your symptoms don't go away or return after you've taken all of your prescribed medication.

STDs Viral
Antibiotics can't treat viral STDs. While most viral infections have no cure, some can clear on their own. And in many cases, treatment options are available to relieve symptoms and reduce the risk of transmissions.

For example, medications are available to reduce the frequency and severity of herpes outbreaks. Likewise, treatment can help stop the progression of HIV. Furthermore, antiviral drugs can lower your risk of transmitting HIV to someone else.

Other STDs Types ?
Some STDs are caused by neither viruses nor bacteria. Instead, they're caused by other small organisms. Examples include:

> Pubic lice
> Trichomoniasis
> Scabies

These STDs are usually treatable with oral or topical medications. Ask your doctor or other healthcare provider for more information about your condition and treatment options.

STD Prevention !
According sexual contact is the only fool proof way to avoid STDs. But if you do have vaginal, anal or oral se, there are ways to make it safer.

When used properly, condoms provide effective protection against many STDs. For optimal protection, it's important to use condoms during vaginal, anal and oral sex. Dental dams can also provide protection during oral sex.

Condoms are generally effective at preventing STDs that spread through fluids, such as semen or blood. But they can't fully protect against STDs that spread from skin to skin. If your condom doesn't cover the infected area of skin, you can still contract an STD or pass it to your partner.

Condoms can help protect against not only STDs, but also unwanted pregnancy.

In contrast, many other types of birth control lower the risk of unwanted pregnancy but not STDs. For example, the following forms of birth control don't protect against STDs:

> Birth control pills
> Birth control shot
> Birth control implants
> Intrauterine devices (IUDs)

@ Jackie San

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