Clinic for Genetic Consultation

21/05/2023

Are we from space ?

16/03/2023

Check attitude of an Autistic ...if you find such do visit Doctor

05/04/2022

Motherhood.. imprints

“When pregnant, the cells of the baby migrate into the mothers bloodstream and then circle back into the baby, it’s called “fetal-maternal microchimerism”.⁠

For 41 weeks, the cells circulate and merge backwards and forwards, and after the baby is born, many of these cells stay in the mother’s body, leaving a permanent imprint in the mothers tissues, bones, brain, and skin, and often stay there for decades. Every single child a mother has afterwards will leave a similar imprint on her body, too.

Even if a pregnancy doesn't go to full term or if you have an abortion, these cells still migrate into your bloodstream.

Research has shown that if a mother's heart is injured, fetal cells will rush to the site of the injury and change into different types of cells that specialize in mending the heart.

The baby helps repair the mother, while the mother builds the baby.

How cool is that?

This is often why certain illnesses vanish while pregnant.

It’s incredible how mothers bodies protect the baby at all costs, and the baby protects & rebuilds the mother back - so that the baby can develop safely and survive.

Think about crazy cravings for a moment. What was the mother deficient in that the baby made them crave?

Studies have also shown cells from a fetus in a mothers brain 18 years after she gave birth. How amazing is that?”

If you’re a mom you know how you can intuitively feel your child even when they are not there….Well, now there is scientific proof that moms carry them for years and years even after they have given birth to them.

I find this to be so very beautiful.

24/03/2022

A new way to treat Cancer using T Lymphocytes.
CAR T Cells: Engineering Immune Cells to Treat Cancer

🩸For decades, the foundations of cancer treatment have been surgery, chemotherapy, and radiation therapy. These continue to be critical mainstays of treatment, but new categories of treatment have recently helped transform the treatment picture for people with cancer.

🩸Chimeric antigen receptor (CAR) T-cell therapy treats certain cancers by turning your T lymphocytes or T cells into more efficient cancer-fighting machines. While researchers are still collecting long-term data, CAR-T cell therapy is proving to be a very effective way of treating certain blood cancer.

19/01/2022

Difference Between an X-Ray, MRI, and CT Scan
1. Radiography is a term that covers studies that require the visualization of the internal parts of the body with the help of X-ray techniques. In other words, X-ray examinations create images of internal organs or bones for medical diagnosis.
2. CT (or CAT) scan is a series of X-ray images made around the body from different angles. CT uses computer processing to create cross-sectional images (slices) of inner organs. CT gives more detailed information than a usual X-ray.
3. Magnetic resonance imaging (MRI) is a way of examination where, unlike X-rays or CT scans, magnetic fields and radio waves (not radiation) are used. MRI can be used instead of CT when organs or soft tissue are to be examined. MRI helps to see the difference between the types of soft tissue and determine which ones are healthy and which ones are not.

19/11/2021

Chromosome #1

15/11/2021

Expression of one gene in so many species..

09/07/2021

How mRNA Vaccines Work ...

28/03/2021

X Linked recessive Inheritance

18/02/2021

How mRNA vaccine works..

01/02/2021

Check ..mRNA

17/12/2020

05/09/2020

or syndrome , is a condition in which we observe an excessive growth of hair in different parts of the body. It could be congenital , it's usually associated with mutations in chromosome 17 or X , it could also be developped during a certain phase due to a cancer or hormonal problems. People with this condition used to be working in the circus as "freaks" before science revealed the truth about this condition.

12/08/2020

Autism

03/08/2020

Chromosome 10

02/08/2020

All information

14/04/2020

Note

Maybe we shouldn't automatically test for in neurodevelopmental disorders in the initial round of testing in the absence of clinical features or family history https://go.nature.com/3cfFftH

12/04/2020

Please note

21/02/2020

Ectodermal dysplasia

Ectodermal dysplasias (ED) are a group of more than 180 disorders that affect the outer layer of tissue of the embryo (ectoderm) that helps make up the skin, sweat glands, hair, teeth, and nails. Symptoms of ED can range from mild to severe and may include teeth abnormalities; brittle, sparse or absent hair; abnormal fingernails; inability to perspire (hypohidrosis); various skin problems; and other symptoms. Different types of EDs are caused by mutations in different genes, and can be inherited in a variety of ways. No cure currently exist for the different types of ED, but many treatments are available to address the individual symptoms.

Ectodermal dysplasias are genetic disorders, which means that they can be passed on from affected people to their children. They are caused by mutations in various genes; the mutations may be inherited from a parent, or normal genes may become mutated at the time of egg or s***m formation, or after fertilization. The risk for parents to have an affected child depends on the inheritance pattern of the specific type of ectodermal dysplasia with which the individual in the family has been diagnosed. Thus, a family affected by an ectodermal dysplasia should consider speaking with a geneticist or a genetic counselor for a better understanding of the specific ectodermal dysplasia and the probabilities or risks that the ectodermal dysplasia will occur in any future pregnancy.

Learn more by visiting www.geneticalliance.org.za

27/01/2020

Costello Syndrome

Today is 𝘾𝙤𝙨𝙩𝙚𝙡𝙡𝙤 𝙎𝙮𝙣𝙙𝙧𝙤𝙢𝙚 𝘼𝙬𝙖𝙧𝙚𝙣𝙚𝙨𝙨 𝘿𝙖𝙮.

Costello syndrome is an 𝚎𝚡𝚝𝚛𝚎𝚖𝚎𝚕𝚢 𝚛𝚊𝚛𝚎 𝚍𝚒𝚜𝚘𝚛𝚍𝚎𝚛 that affects multiple organ systems of the body.

This condition is characterized by:
➡️growth delays after birth;
➡️short stature;
➡️extra loose skin on the neck, palms of the hands, fingers, and soles of the feet;
➡️noncancerous tumors (papillomata) around the face and a**s;
➡️developmental delay and intellectual disability;
and a characteristic facial appearance.

Other physical features may include the development of 𝚍𝚛𝚢 𝚑𝚊𝚛𝚍𝚎𝚗𝚎𝚍 𝚜𝚔𝚒𝚗 on the palms of the hands and the soles of the feet (palmoplantar hyperkeratosis), abnormally 𝚍𝚎𝚎𝚙 𝚌𝚛𝚎𝚊𝚜𝚎𝚜 on the palms and soles, and/or abnormally 𝚏𝚕𝚎𝚡𝚒𝚋𝚕𝚎 𝚓𝚘𝚒𝚗𝚝𝚜 of the fingers (hyperextensible).

There is an increased incidence of congenital abnormalities of the heart and thickening of the heart muscle called a cardiomyopathy.

Characteristic craniofacial features may include an abnormally large head (macrocephaly); coarse facial features; unusually thick lips; and/or abnormally wide nostrils (nares).

Affected individuals have an increased lifetime risk to develop specific malignant tumors. Costello syndrome is an autosomal dominant genetic condition caused by mutations in the HRAS gene.

If you would like to learn more about this condition, visit www.geneticalliance.org.za & follow Raising Aidan - a little South African 🇿🇦 boy with a great big heart!

25/01/2020

Moebius syndrome is a rare neurological disorder characterized by weakness or paralysis (palsy) of multiple cranial nerves, most often the 6th (abducens) and 7th (facial) nerves. Other cranial nerves are sometimes affected. The disorder is present at birth (congenital). If the 7th nerve is involved, the individual with Moebius syndrome is unable to smile, frown, pucker the lips, raise the eyebrows, or close the eyelids. If the 6th nerve is affected, the eye cannot turn outward past the midline. Other abnormalities include underdevelopment of the pectoral muscles and defects of the limbs. Moebius syndrome is not progressive. The exact cause is unknown. It appears to occur randomly (sporadically) in most cases; however, some cases occur in families suggesting that there may be a genetic component.

Join us and help unite us with one voice As a member of the Genetic Alliance South Africa community, by joining us you can help unite the sector with one voice so together we can reach our mutual goals on behalf of all those affected or at risk of congenital disorders. The more members of GA-SA repr...

07/01/2020

Cleft palate

28/12/2019

Identifying Autism at early childhood

11/12/2019

Sucidal behavior

Su***de is UK’s leading, and silent, cause of death for young people aged 20-34 years. Rona Strawbridge, UKRI Innovation, has used the population genomic data from the UK Biobank in an effort to find the genetic association of psychological condition phenotypes such as depression. She will be disc...

09/09/2019

Families with a strong history of cardiac conditions, especially at a young age, should be seen by a genetic counsellor to assess their chance of carrying a gene mutation that causes these problems. If a change is found, treatment could prevent or delay a cardiac incident, and doctors would know how to manage the patient.

23/06/2019

Understand ASD

17/05/2019

“It’s a Spectrum” Doesn’t Mean What You Think | The Aspergian | A Neurodivergent Collective

Autism Spectrum .a bigger understanding.

What you believe the "autism spectrum" means is not what it actually means. It's more like...

19/04/2019

Why Knowing Your Inherited Risk of Prostate Cancer Is Important

Purpose of Genetic Counseling

Your family history and genetics may heighten your risk

16/04/2019

Clinic for Genetic Consultation

15/02/2019

Genetic predisposed...What it means?

17/01/2019

Could your child have Rett syndrome?

Rett Syndrome ..Male fetus hardly survives

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17/01/2019

Single gene

15/12/2018

Fathers Can Pass Mitochondrial DNA to Children

Parental DNA

Researchers identify unique cases in which people inherited mitochondrial DNA not just from their mother but also from their father.

20/09/2018

How Our Immune System Detects Broken DNA - BioThix.com

Broken DNA

Our immune system can detect when our own cells are damaged. This DNA damage can come from a variety of sources, such as the sun's UV rays, chemical agents like cigarette smoke, or from genotoxic drugs used in chemotherapy.

20/04/2018

Point-of-care whole-exome sequencing of idiopathic male infertility

infertility Y chromosome relation.

Original Research Article

18/04/2018

Autoimmune Disease - Immunology Notes

Read

Autoimmune disease occurs when a specific adaptive immune response is mounted against self antigens. The normal consequence of an adaptive immune response against a foreign antigen is the clearance of...

06/04/2018

National DNA Day

Festivity

2018 is a big year for genomics. As we celebrate the 15th anniversary of the Human Genome Project's completion, we will look at 15 ways genomics continues to shape our lives. Follow the celebration on April 5th! http://bit.ly/2GzUHWk