Cracking the code: Diagnosing rare medical conditions can take up to 15 years

Thus far, 7,600 genetic diseases have been identified and more are being discovered every year. Read more at straitstimes.com.

SINGAPORE – For men and women suffering from medical conditions and diseases so rare they are practically unheard of, finding a cure – or at least relief from symptoms – often feels impossible.

In fact, having a rare disease – defined as one that affects fewer than one out of 2,000 people – feels like drawing the short straw at birth.

Since they are so few and their symptoms are often non-specific, many conditions can slip through the cracks or go unnoticed, said Adjunct Associate Professor Chin Hui-Lin, a geneticist with the National University Hospital (NUH).

There are about 3,000 people in Singapore living with such conditions, and while some were diagnosed in infancy, others were diagnosed only in childhood or adulthood.

Thus far, 7,600 genetic diseases have been identified, and more are being discovered every year. Genetic disorders are usually caused by differences or changes in a person’s genes. While many genetic conditions are inherited from parents who are affected or are carriers, some can arise in children even when neither parent has the condition, Prof Chin said.

New mutations can occur in a sperm or an egg cell, or during early embryonic development. At that stage, every time a cell splits, the DNA needs to be replicated in both parts.