Simply Genetics

28/02/2025

On the last day of February, the world celebrates Rare Disease Day, highlighting the challenges millions face.

With >7,000 rare diseases impacting ±400 million people globally, awareness & support are critical.

Rare diseases can lead to significant health challenges, & they often remain undiagnosed or misdiagnosed. Although not all rare diseases are genetic, genetic testing allows healthcare providers to try to identify genetic changes responsible for these disorders, offering clarity & paving the way for tailored treatment options.

Genetic testing provides essential insights into rare diseases; benefits include:

Accurate Diagnosis: It can greatly reduce the time needed for a proper diagnosis, accelerating understanding of a patient's condition.

Informed Treatment Options: A confirmed diagnosis can guide clinicians toward the most effective treatments.

Family Planning: Testing can reveal genetic risks, aiding families in making informed decisions for future generations.

Participation in Research: A confirmed diagnosis could enable patients to participate in research studies or clinical trials, granting them access to advanced therapies.

Genetic counselling complements testing by helping families understand its implications by providing:

Pre-Test Education: Information about the testing process & potential outcomes.

Emotional Support: Guidance during diagnosis to help families cope with uncertainty.

Post-Test Interpretation: Assistance in understanding complex test results.

Resource Connection: Links to support groups & specialists for comprehensive care.

On Rare Disease Day, it's crucial to highlight the significance of genetic testing & counselling. Families should know there are paths to understanding & managing their conditions. By advocating for increased access to these services, we can empower individuals & families, fostering progress in the rare disease community.

Though navigating a rare disease diagnosis is daunting, genetic testing & counselling offer hope. Let’s commit to supporting those affected & the professionals dedicated to their care, creating a more informed & compassionate environment.

21/11/2024

Very excited to read this! Thank you for raising awareness for SMA 💜🧬

14/11/2024

Genetic Counsellor Awareness Day is dedicated to recognising the invaluable contributions of genetic counsellors to healthcare.

Genetic counselling is a specialised field that combines genetics with psychology, education, and ethics. Genetic counsellors (GCs) are trained healthcare professionals who are experts in interpreting genetic tests, discussing family histories, and providing support for challenging health decisions.

GCs educate patients about genetic conditions, enabling them to understand their risks and options. This empowerment can lead to proactive health choices, preventative measures, and informed reproductive decisions.

Dealing with genetic information can be overwhelming. GCs offer emotional support, helping individuals navigate their feelings and concerns regarding potential health risks. They create a safe space for patients to express their worries and receive guidance.

Genetic counselling doesn’t just stop at understanding genetics; it often includes navigating the healthcare system. GCs can connect patients with additional resources, support groups, and specialists, ensuring they have a comprehensive support network.

GCs are crucial in advocating for patient rights and raising awareness about genetic conditions. They contribute to research and education initiatives that inform the public and healthcare professionals alike about the importance of genetics in health and disease.

In an era where genetic testing is more accessible than ever, the need for skilled genetic counsellors is paramount. They help demystify the often intimidating and complex nature of genetics, making it accessible to everyone. Whether it's for personalised medicine, family planning, or understanding hereditary cancer risks, the insights provided by genetic counsellors can profoundly impact lives.

GCs are guides in the intricate landscape of genetics, helping to illuminate paths for families to understand their history, manage health risks, and ultimately enhance their quality of life. If you or someone you know is considering genetic counselling, reach out to a professional in this field—it's a step towards understanding and empowerment.

09/10/2024

Early detection of cancer is key to enabling effective treatment and a better chance of recovering from cancer.

Have you booked your cancer screening yet?

Make your booking by contacting Nondumiso Bhengu on 031 205 9565

02/07/2024

July is Sarcoma Awareness Month!

Most cases of cancer involve either a carcinoma or a sarcoma. Sarcomas start in connective tissues, which include bones, cartilage, tendons, and the fibrous tissue that supports organs. While sarcomas are much less common than carcinomas, they are important to understand.

Sarcomas are typically grouped into two main types: bone sarcomas (osteosarcoma) and soft tissue sarcomas. Altogether, they make up less than 1% of all cancer diagnoses each year.

- Most common bone sarcomas include Osteosarcoma, Chondrosarcoma, Ewing Sarcoma and Chordoma.
- Most common soft tissue sarcomas include Rhabdomyosarcoma, Leiomyosarcoma, Gastrointestinal Stromal Tumours (GISTs) and Kaposi's Sarcoma.

Learn more about sarcomas and their impact in the CANSA Fact Sheet on Sarcoma Cancer:https://cansa.org.za/files/2021/05/Fact-Sheet-on-Sarcoma-Cancer-NCR-2017-web-May-2021.pdf

31/05/2024

👏🧬🫁

28/04/2024

Did you know that 650 million people worldwide are living with undiagnosed ? Shockingly, only 40% of them will ever receive a diagnosis and support for their condition. This means that a vast number of individuals are left without proper care and treatment.

Patients with rare diseases often face the challenge of misdiagnosis, leading to incorrect treatment plans or even unnecessary surgeries. It's crucial to raise awareness about these conditions to ensure timely diagnosis and appropriate care for those in need.

Let's work together to shine a light on rare diseases, advocate for better diagnostic methods, and provide support for patients and their families. Together, we can make a difference in the lives of those affected by rare diseases. 💙

23/04/2024

👏✨🧬

A teenager with Down's syndrome has received a Guinness World Record after completing the London Marathon. Watch the moment Lloyd crossed the finish line: https://bbc.in/4d4zjUD

01/03/2024

Happy Friday!
This story is a beautiful reminder that genetic testing is one of the most powerful diagnostic tools in healthcare 🧬

Baby Rowan’s seizures mystified his doctors until genetic testing revealed their source and led his family to a life-changing community

09/10/2023

Hi Everyone,

This story is close to my heart and inspired a significant part of my life and career.

The story belongs to Amy Robertson, a young lady with a genetic condition called cystic fibrosis (CF). I have known Amy for over ten years, and her bravery and passion for raising awareness of CF have greatly influenced me growing up. Knowing her and her family and seeing the impact of a genetic condition inspired me to study genetic counselling. And for that, I am forever thankful.

So, what is CF, and why am I making this post?

CF is a devastating genetic condition affecting the lungs and the digestive system. Thick and sticky mucus build-up leads to chronic infections, inflammation, and damage. In some people (like Amy), it can cause CF-related diabetes, which adds to the medical challenges people with CF face.

There is no cure for cystic fibrosis; treatment options can help manage symptoms and improve the quality of life. These include medication to thin mucus, antibiotics to treat infections, and therapies to loosen and clear mucus from the lungs. A lung transplant may be necessary in severe cases, but this comes with new challenges and is not an easily accessible option in South Africa.

Sadly, the symptoms worsen with age and hospital admissions become more frequent. The life expectancy is increasing, but in South Africa, it is estimated at 30-40 years old. You can read more about Amy’s journey on the webpage.
Recently, new modulator therapies have been designed to correct the malfunctioning protein made by the CFTR gene. The medication has been shown to improve the quality of life and extend life expectancy considerably.

The medication is not available in South Africa, and it is costly. South Africans can fly to South America every six months (you can only import a certain amount of the drug) and pay R250 000 – R1mil per year for the medication or move to a country that offers the treatment. The UK NHS system does provide the drug to people with CF.

Amy can get an ancestral visa for the UK and then access the CF medication there. But it is also expensive because her family must pay for the visa, flights, and accommodation and pay into the NHS fund before she can access the healthcare system.

This is why her Back-a-Buddy has been created with the hopes that together, we can help Amy access medication to help her live a longer life with fewer medical burdens. If you can, a donation would be greatly appreciated, but even if you could share the post and tell your friends. CF affects more than 160,000 people across the world, and with the advances of modern medicine, everyone deserves a chance to live a healthier life.

Dear Supporters, I trust this message finds you in good health and high spirits. I am reaching out to you with a heartfelt appeal for support in our mission t

23/09/2023

We all know that as we age, our eyesight can deteriorate, leading to vision loss (and needing glasses). However, as you can expect, genetics can also play a role in this process. Certain genes have been associated with vision loss, including those involved in developing and maintaining the retina (the part of the eye responsible for detecting light and colour).

One such gene is the ABCA4 gene, which codes for a protein involved in transporting waste products out of the retina. Mutations in this gene can lead to a build-up of toxic substances in the retina, causing damage and vision loss over time. Another gene, called ELOVL4, is involved in producing a type of fat called very long-chain fatty acids, which are essential for the retina's health. Mutations in these two genes can lead to a form of early-onset vision loss known as Stargardt macular degeneration.

Stargardts is the most common form of juvenile macular degeneration.
It is estimated that Stargarts affects 1 in 8 000-10 000 people.

While genetics can play a role in vision loss (in some cases, it is purely genetic, like Stargarts), it's important to remember that lifestyle factors such as diet, exercise, and exposure to sunlight can also impact our eye health. Regular eye exams and a healthy lifestyle can help prevent or slow the progression of vision loss, even in those with a genetic predisposition.

21/09/2023

We tend to think that genetically modified organisms (GMOs) are new to the world of agriculture. And, unfortunately, some clever marketing strategies try to sell you GMO-free versions of something that is actually the product of many generations of selective breeding.

I think you would be surprised to see what some of your favourite fruit and veg looked like more the dawn of agriculture and selective breeding!

Selective crop breeding is a method that has been used for centuries to create more robust and more resilient crops. It involves carefully selecting and breeding plants with desirable traits like disease resistance, increased yield, and improved flavour (does this remind you of our good friend Gregor Mendel?). By doing this, farmers and plant breeders can create crops better suited to their specific needs and thrive in various environments.

One of the most fundamental benefits of selective crop breeding is that it can help increase food security and reduce hunger worldwide. By creating crops that are more resistant to pests and diseases, farmers can produce larger harvests and provide more food for their communities. Additionally, by creating crops that are better suited to local conditions, farmers can grow food in areas that were previously unsuitable for agriculture.

By creating crops that are naturally resistant to pests and diseases, farmers can reduce their reliance on these chemicals, which can harm the environment and human health. Isn’t it cool that by selective breeding, we can grow crops that are better and healthier for our ecosystems and our families?

To cut to the chase, selective crop breeding is an essential tool that can help to improve food security, protect the environment, and promote sustainable agriculture. As we continue to face challenges such as climate change and population growth, investing in this process and developing new and innovative ways to breed stronger and more resilient crops will help ensure better food security for future generations.