Most of the rare diseases are inherited – from the parents to their children are dropped down. Generally referred to as orphaned diseases, each 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 are traditionally not focusing on research in treatment.

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

According to India National policy on rare diseasesAt least 80 percent of rare diseases are an identified genetic origin. “Rare diseases are mainly genetic in nature and sometimes caused by bacteria and viral infections or environmental factors such as smoking or air pollution,” Dr. Hamp said.

How is rare diseases characteristic,

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

In symptoms, asymmetry can make diagnosis quite challenging and longer. Genetic testing and genetic consultation can reduce this process.

How do children get rare diseases from their parents?

There are many ways from which rare diseases were genetically inherited from parents to children. In some examples, a child can inherit the disease if any of the parents have a defective gene. “Such heritage is known as Autosomal Head. Examples include Huntington Disease and Achondroplasia. There are times when both parents take the faulty genes, even if they do not have disease themselves. It is known as autosomal resactive inheritance, found in cystic fibrosis and sickle cell anemia, ”he said.

Some diseases are associated with X chromosome. If it is an ex-linked prominent, girls are more likely to receive it. If it is an X-Linked Reactive, as Hemophilia A, then boys are more likely to get it. In addition, there is mitochondrial heritage, in which the defective gene comes from the mother’s mitochondria.

What is the importance of genetic intervention?

Dr. According to Hemp, early diagnosis and treatment of rare diseases is important for improving the quality of life, as they allow time intervention and more effective management, which helps reduce the impact of the condition.

To ensure accurate and quick diagnosis, a range of genetic tests is available, which guides the child through proper clinical process:

Newborn screening

This test uses a few drops of newborn’s blood or urine samples to help prevent or manage possible health issues from the onset of life, which can be treated quickly.

Prenatal clinical test

It helps in identifying or ruleing a specific genetic or chromosomal position.

Carrier test

It helps to identify whether either the partner bears a mutation associated with a genetic disorder. This is a valuable option for anyone considering family planning, even if the condition of the condition is a family history.

Prenatal screening

It examines changes in the genes or chromosomes of a fetus before birth.

Karyoseq Test

An advanced whole genome sequencing test to detect chromosomal abnormalities in prenatal and newborn conditions.

Treatment options and research progress

Treatment options for rare diseases include gene therapy, stem cell therapy and reuse of drugs. Recent progresses in genomic research, such as the next generation sequencing, liquid biopsy and pre-invasive delivery screening, have expressed hope for families with a predisposition for rare diseases. In addition, the use of mass spectrometry techniques has revolutionized specific markers, helping to accurate diagnosis, monitoring and individual treatment of many common genetic disorders.

“While the possibility of inheriting a rare disease can be disturbing, ongoing research and emerging medical approaches are providing new opportunities to improve the quality of life for children affected by effective management, treatment and these conditions. ,” Dr. Hempe said.

Genetic counseling also plays an important role for families, provides guidance on heritage patterns, empowering risk evaluation, and informed decisions about family planning and healthcare.

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