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Genetics

Medical Mysteries

Two of her children were diagnosed with rare genetic disorder, with son dying months after birth

Rania Safiyya Ridzwan, five, has a rare genetic disorder called Kaufman oculocerebrofacial syndrome.
Rania Safiyya Ridzwan, five, has a rare genetic disorder called Kaufman oculocerebrofacial syndrome.

Medical Mysteries

Man learns of his rare genetic condition only after daughters are diagnosed

ST20250925_202581800121 Azmi Athni judna25//

If it wasn't for daughter Nurul Naqisyah Mohamad Shahrel's dignosis, general worker Mohamad Shahrel Hamid, 45, would not know he had haploinsufficiency A20, a rare inherited immune disorder characterised by systemic inflammation and autoimmune infections

ST PHOTO: AZMI ATHNI
ST20250925_202581800121 Azmi Athni judna25//

If it wasn't for daughter Nurul Naqisyah Mohamad Shahrel's dignosis, general worker Mohamad Shahrel Hamid, 45, would not know he had haploinsufficiency A20, a rare inherited immune disorder characterised by systemic inflammation and autoimmune infections

ST PHOTO: AZMI ATHNI

Medical Mysteries

Knowing patient’s genetic make-up may change the way medicines are prescribed

Dr Goh Liuh Ling, laboratory director and senior principal scientific officer at Tan Tock Seng Hospital Centre for Precision and Genomic Medicine carrying out tests on a patient's genes to see how he would react to his medication

ST PHOTO: AZMI ATHNI
Dr Goh Liuh Ling, laboratory director and senior principal scientific officer at Tan Tock Seng Hospital Centre for Precision and Genomic Medicine carrying out tests on a patient's genes to see how he would react to his medication

ST PHOTO: AZMI ATHNI

Medical Mysteries

Her rare condition means eating protein risks build-up of toxic ammonia levels in her blood

Insurance agent Rachelle Yeo (right), 29, was diagnosed with Ornithine Transcarbamylase (OTC) deficiency when she was 18 months old. The condition stops her body from breaking down protein. As Ms Yeo and her fiance Luis Teo, 31, will be getting married next year and starting a family, doctors will need to monitor her closely as expectant mothers need protein for the baby to grow..

ST PHOTO: AZMI ATHNI
Insurance agent Rachelle Yeo (right), 29, was diagnosed with Ornithine Transcarbamylase (OTC) deficiency when she was 18 months old. The condition stops her body from breaking down protein. As Ms Yeo and her fiance Luis Teo, 31, will be getting married next year and starting a family, doctors will need to monitor her closely as expectant mothers need protein for the baby to grow..

ST PHOTO: AZMI ATHNI

Medical Mysteries

She has a rare genetic metabolic disorder but fought all odds to live and is now 17

Despite living with Methylmalonic acidemia (MMA),  a rare, genetic disorder of the liver where it is  unable to produce an enzyme that is needed to break down certain proteins and fats in food, Francesca Lim, 17, remains the centre of attention for her father Daniel Lim, (left) 56, property agent; and mother Ms Michelle Tan, (right) 54, procurement executive.
Despite living with Methylmalonic acidemia (MMA),  a rare, genetic disorder of the liver where it is  unable to produce an enzyme that is needed to break down certain proteins and fats in food, Francesca Lim, 17, remains the centre of attention for her father Daniel Lim, (left) 56, property agent; and mother Ms Michelle Tan, (right) 54, procurement executive.

While You Were Sleeping: 5 stories you might have missed, Aug 7, 2025

A meeting between US President Donald Trump (centre), Russian leader Vladimir Putin (left) and Ukrainian counterpart Volodymyr Zelensky could take place as early as next week, according to reports.
A meeting between US President Donald Trump (centre), Russian leader Vladimir Putin (left) and Ukrainian counterpart Volodymyr Zelensky could take place as early as next week, according to reports.

UK scientists find genes linked with chronic fatigue syndrome

A study showed that eight areas of genetic code are different in people with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) than in healthy volunteers.
A study showed that eight areas of genetic code are different in people with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) than in healthy volunteers.

Discovery of 4 different sub-types of autism paves way for personalised care

Each subtype exhibits distinct developmental, medical, behavioural and psychiatric traits, and different patterns of genetic variation.
Each subtype exhibits distinct developmental, medical, behavioural and psychiatric traits, and different patterns of genetic variation.

Medical Mysteries

Rock climbing fan suddenly could not jump, get up from squats

Ms Siti Nur Sabrina Anis (left) leans on her best friend Mr Luke Ligo, for both physical and emotional support.
Ms Siti Nur Sabrina Anis (left) leans on her best friend Mr Luke Ligo, for both physical and emotional support.

Medical Mysteries

Girl feels little pain as a result of genetic disorder

Mr Veerama Rao with his daughter Geethika Rao, 7, and her doctor Dr Chin Hui-Lin, Senior Consultant, Division of Genetics and Metabolism, Department of Paediatrics, Khoo Teck Puat - National University Children's Medical Institute, National University Hospital, at the hospital on March 29, 2025. Geethika suffers from Smith-Magenis Syndrome,
Mr Veerama Rao with his daughter Geethika Rao, 7, and her doctor Dr Chin Hui-Lin, Senior Consultant, Division of Genetics and Metabolism, Department of Paediatrics, Khoo Teck Puat - National University Children's Medical Institute, National University Hospital, at the hospital on March 29, 2025. Geethika suffers from Smith-Magenis Syndrome,

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MDDI (P) 048/10/2024. Published by SPH Media Limited, Co. Regn. No.202120748H. Copyright © 2025 SPH Media Limited. All rights reserved.