Can Your Child Inherit Rare Disorders? Know Why Genetic Intervention Is Important

Genetic Disorders: Most of the rare diseases are inherited—passed down from parents to their children. Generally referred to as orphan diseases, each of the almost 7,000 of them is due to the same issue—a mutation in a single gene in a person’s genome. Due to their rarity, inherited diseases have not traditionally been a focus of research into treatments.

According to experts, the fact is that inherited “rare” diseases are not rare. Studies say one in 25 children is born with a “rare” inherited disease. “A disease is classified as rare when it affects fewer than 1 in 2,500 people in India. This means that roughly 60 million people in India are living with rare diseases, and these conditions are known to disproportionately affect children,” Dr. Mahesh Hampe (MD, DNB), Senior Clinical Biochemist, MedGenome, told Times Now.

According to India’s National Policy on Rare Diseases, at least 80 per cent of rare diseases have an identified genetic origin. “Rare diseases are primarily genetic in nature and sometimes caused by bacterial and viral infections or environmental factors such as smoking or air pollution,” said Dr. Hampe.

According to Dr. Hampe, rare diseases are often characterised by highly variable and complex signs and symptoms.

The heterogeneity in symptoms can make diagnosis quite challenging and prolonged. Genetic testing and genetic counselling can make this process less of an ordeal.

There are several ways in which rare diseases are genetically inherited from parents to children. In some instances, a child might inherit the disease if either of the parents has the faulty gene. “Such inheritance is known as autosomal dominant. Examples include Huntington's disease and achondroplasia. There are times when both parents carry the faulty gene, even if they don't have the disease themselves. This is known as autosomal recessive inheritance, found in cystic fibrosis and sickle cell anemia,” he said.

Some diseases are linked to the X chromosome. If it is X-linked dominant, girls are more likely to get it. If it's X-linked recessive, like hemophilia A, boys are more likely to get it. Also, there is mitochondrial inheritance, in which the faulty gene comes from the mother's mitochondria.

According to Dr. Hampe, early diagnosis and treatment of rare diseases are crucial for improving prognosis and quality of life, as they allow for timely intervention and more effective management, helping to mitigate the impact of the condition.

To ensure accurate and prompt diagnosis, a range of genetic tests are available, guiding the child through the appropriate diagnostic process:

This test uses a few drops of samples of the newborn's blood or urine to detect genetic disorders that can be treated early, helping to prevent or manage potential health issues from the start of life.

It helps to identify or rule out a specific genetic or chromosomal condition.

It helps identify whether either partner carries a mutation associated with a genetic disorder. It is a valuable option for anyone considering family planning, regardless of whether there is a family history of the condition.

It checks for alterations in a fetus's genes or chromosomes prior to birth.

An advanced whole genome sequencing test for detecting chromosomal abnormalities in prenatal and newborn conditions.

Treatment options for rare diseases include gene therapy, stem cell therapy, and drug reuse. Recent advancements in genomic research, such as next-generation sequencing, liquid biopsies, and non-invasive prenatal screening, have raised hope for families with a predisposition to rare diseases. Besides this, the use of mass spectrometry techniques has revolutionised the detection of specific markers, helping the accurate diagnosis, monitoring, and individualised treatment of several common genetic disorders.

“While the prospect of inheriting a rare disease can be distressing, ongoing research and emerging therapeutic approaches are providing new opportunities for effective management, treatment, and improved quality of life for children affected by these conditions,” said Dr. Hampe.

Genetic counselling also plays a crucial role for families, offering guidance on inheritance patterns, risk assessment, and empowering informed decisions about family planning and healthcare.

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