Dr Liani Smit - Medical Geneticist

24/09/2025

Autism is multifactorial, meaning its development is influenced by a complex interplay of both genetic predispositions or susceptibilities and environmental factors or exposures. These genetic factors include hundreds of identified gene variants that may increase risk. In a smaller proportion of cases, autism may be part of a genetic condition or syndrome. Paracetamol remains the safest medicine a pregnant woman can take for fever and pain.

https://sasog.co.za/press-release-paracetamol-use-in-pregnancy/

17/10/2024

This morning I had the pleasure of meeting the breakfast team where we discussed the role genetics plays in cancer, specifically breast cancer for .

22/08/2023

I am hosting an online informational webinar for expectant parents about genetic conditions and the various screening and testing options that are available before and during pregnancy.

The webinar is free and aimed at the general public. If you are pregnant or planning a pregnancy and curious about your baby's genetic health you will find this very useful!

Date: Tomorrow, Wednesday 23 August, 18h30

Platform: Zoom - Click the link below to register

Zoom unifies cloud video conferencing, simple online meetings, and cross platform group chat into one easy-to-use platform. Our solution offers the best video, audio, and screen-sharing experience across Zoom Rooms, Windows, Mac, iOS, Android, and H.323/SIP room systems.

13/05/2023

Have you heard about non-invasive prenatal testing (NIPT)?

It is a highly accurate method of screening for genetic conditions in a baby during pregnancy from as early as 9 weeks into the pregnancy and only requires a blood test in the mother.

What is non-invasive prenatal testing (NIPT)? Mediclinic Precise’s NIPT is a blood test performed during pregnancy that identifies whether your baby has a higher chance of having certain chromosomal conditions, such as Down syndrome.

31/03/2023

Have you heard about precision medicine?

Precision medicine is an emerging approach to disease prevention and treatment that considers the unique genes and environment of each patient. The ultimate goal of precision medicine is to provide the right treatment, at the right time, tailored to a patient's individual needs.

Mediclinic Southern Africa recently introduced their new precision medicine initiative called Mediclinic Precise. I am keen to see how this space will evolve in the coming years!

Imagine a treatment journey tailored to your true essence – your genetic makeup. A journey that is easier, more...

24/02/2023

Excited to be part of this pioneering precision medicine initiative by Mediclinic

Mediclinic Southern Africa announced their investment in precision medicine with the acquisition of an 80% shareholding in Artisan Biomed, a subsidiary of the Centre for Proteomic & Genomic Research (CPGR) which owns the remaining 20%.

05/02/2023

It's been a while since I posted to this platform and so much has happened since. So here's a quick reintroduction and an update:

I am a practicing clinical/medical geneticist in the Northern suburbs of Cape Town. This is my 15th year of being a qualified doctor and 3rd year of working as an independent medical geneticist following completion of my specialist training. In my private practice, my day to day work involves consulting with individuals and families who either have or are at risk of hereditary conditions. Since genetic conditions can affect people of all ages, there is no age limit to whom I may see.

On non patient facing days, I consult to diagnostic genetic laboratories where I have a variety of roles, including assisting the lab with interpretation and reporting of genetic test results.

Why genetics? Since I can remember, I knew I wanted to be a doctor, but it was only after working a few years in a variety of medical fields that I knew I wanted to pursue specialisation in genetics. Genetics permeates almost all disciplines of medicine and aspects of our health, yet is is a field still few people know about or appreciate the relevance and impact of.

The main reason for this platform is therefore to raise awareness about genetic conditions, which are almost always also rare diseases, and the availability of genetic services and genetic professionals who can accurately investigate, diagnose, counsel, manage and treat individuals who either have or are at risk of hereditary conditions.

My prolonged social media absence has in part been because the title of "mama" was added to my repertoire in January 2022. To say the past year has been exhausting, hard, and challenging, yet immeasurably rewarding, exhilarating, and like nothing I could have imagined, would all be true yet still entirely inadequate to describe the profound impact becoming a mom has had on all facets of my personal and professional life. Motherhood has definitely deepenened my empathy and compassion for my patients and the uncertainty, challenges and complexity of life they often face even further.

I'm glad you're here!

🌿

02/09/2021

Proud to be part of the Mediclinic family and excited for the opportunity to bring the medical genetics discipline into mainstream private practice

Dr Liani Smit is now in private practice at Mediclinic Panorama. She completed her MMed in Medical Genetics cm laude and was admitted as a Fellow of the...

31/07/2021

Have you heard about Rare Diseases SA (RDSA)?

Click the link below to learn more about the invaluable contribution they make to individuals and families affected with rare diseases.

30/06/2021

Newborn screening (NBS) can screen babies in the first few days of life for a selected group of genetic and metabolic diseases that are often not yet apparent at birth.

Early detection and treatment of these conditions saves lives and prevent severe and irreversible complications.

Most of these conditions may occur in a child for the first time without any family history of these conditions being apparent.

NBS is offered as standard of care in many countries as part of their preventative health programmes but is not yet routinely availble in SA. Speak to your obstetrician or paediatrician about NBS to find out more.

Newborn screening (NBS) is internationally recognised as essential in preventive healthcare practices. It involves the testing of newborn babies for treatable genetic conditions or inborn errors of metabolism that may not be apparent at birth. All newborn babies’ tests in South Africa are screened...

03/06/2021

Have you or a family member been diagnosed with cancer?

Genetic counselling and testing for an inherited cause of cancer may be appropriate to help clarify your risks, influence your treatment plan, and help facilitate screening and management of at risk family members to either prevent or detect cancer early.

Here's how it works:

An overview of understanding inherited risk for cancer and why genetic testing could help in determining if someone might be at risk. This video is a joint e...

29/05/2021

Gene therapy offers hope for cure of genetic disorders now and in the future.

Great Ormond Street Hospital for Children recently revealed that gene therapy cured 48/50 of their patients with severe combined immunodeficiency (SCID). Read more here: https://www.gosh.nhs.uk/news/gene-therapy-offers-a-potential-cure-to-children-born-without-an-immune-system/

There are however many challenges when it comes to designing and delivering gene therapies, and the costs involved are astronomical. Long term effects of gene therapy also remain largely unknown therefore careful and lifelong follow up of recipients are required. For these reasons gene therapy clinical trials are generally reserved for severe and often fatal genetic conditions where there are no or very limited alternatives for treatment.

To learn more about gene therapy and how it works, have a look at this informative video :
https://www.youtube.com/watch?v=BxEoX6TkitY

Gene therapy has been studied for more than 40 years and can help stop or slow the effects of disease on the most basic level of the human body—our genes. An...