Down syndrome is one of the most common causes of intellectual disability, across the globe. The worldwide incidence of Down Syndrome is pegged to be somewhere around one in every 700 liveborn.
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MD Pediatrics
Fellow Clinical Genetics (MUHS, King Edward Memorial Hospital, Mumbai)
Ex- Asst Professor in Department of Pediatrics and Clinical Geneticist at Seth Gordhandas Sunderdas Medical College & King Edward Memorial Hospital, Mumbai
Dr Shruti Bajaj has completed her basic as well as advanced qualifications from the very prestigious Seth Gordhandas Sunderdas Medical College and King Edward Memorial Hospital, Mumbai. She successfully completed a one year Fellowship program in Clinical Genetics at KEM Hospital, Mumbai to become one of the few Qualified Clinical Geneticists in the country. The Fellowship is distinguished in being accredited to the Maharashtra University of Health Sciences. She furthered her knowledge in the field of Genetics, by successfully completing a short Observership Program in Clinical and Laboratory Genetics from the esteemed Kasturba Medical College in Manipal.
With a rising trend in genetic disorders in India, there is a 'felt-need' for Genetic Experts like Dr Shruti Bajaj to mitigate genetic diseases.
Mental retardation, autism, ADHD, learning disability, head size abnormalities (large and small head), epilepsy, balance disorders, psychiatric conditions. More
Inborn errors of metabolism, lysosomal storage disorders, porphyria, fatty acid oxidation disorders, aminoacidopathies, organic acidemias. More
Short stature, failure to thrive, childhood onset diabetes, recurrent pancreatitis, hyperlipidemia, congenital adrenal hyperplasia. More
Early onset nephrotic syndrome, renal malformations, polycystic kidney, haemolytic uremic syndrome, genetic varieties of renal tubulopathies. More
Unexplained and recurrent pregnancy losses, infertility, premature ovarian failure, consanguineous couple genetic counseling.. More
The DNA is the hereditary material carried by an individual. This DNA resides in every cell of the individual’s body.
A gene is the functional unit of an individual’s DNA. There are about 30,000- 40,000 ‘coding’ genes in the human DNA. These genes ‘code’ for important proteins in our body, which help as building blocks for carrying out various functions like growth, development, reproduction, body metabolism; to name a few. They make up for about 5% of the total DNA. With advances in the branch of genetics, we understand that the rest of the ‘non-coding’ DNA, incorrectly dubbed as ‘junk DNA’, also has important implications in the smooth functioning of the individual.
A Clinical Geneticist (commonly called as a Genetic Specialist) is a trained professional who evaluates patients or their families for possible hereditary diseases. A Clinical Geneticist carefully analyzes the clinical history, elicits a complete three to four generation family tree, carries out detailed physical examination, postulates the possible mode of inheritance of the disease, advices and arranges for the special genetic tests, formulates treatment and surveillance plans, and helps to understand the risk of the other family members to develop a given genetic condition. A Clinical Geneticist is a Clinician along with being a Genetic Counsellor; having an added advantage of Medical training to guide the patients more holistically.
As a group, genetic disorders are common, though they may be rare as individual diseases. There are no formal figures about the burden of Genetic diseases in India. However, extrapolating data from the West shows that eight individuals every 100 will have some type of a genetic disease, when followed up to 25 years of age. The social and caste system of marrying within the strict limits of a given community (endogamy) and marrying within blood relatives/ cousins (consanguinity); puts the Indians at a greater; but an under-appreciated, risk of suffering from and transmitting genetic disorders. As per Indian National Health Mission data, eight of every 100 born babies have a birth defect, major or minor, present since birth.
Down syndrome is one of the most common causes of intellectual disability, across the globe. The worldwide incidence of Down Syndrome is pegged to be somewhere around one in every 700 liveborn.
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A 28-year-old woman is the mother of a 5-year-old daughter, suffering from a rare genetic disease, 'Epilepsy, hearing loss and mental retardation syndrome' abbreviated as EHLMRS. This is a morbid disease affecting the developing brain, causing severe intellectual impairment, difficult-to-treat seizures and hearing loss.
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Rare conditions are therefore disproportionately common in populations with a strong founder effect (like the one seen in South Asia)
"There is a tendency to think, “This (a rare genetic disorder) will never happen to me because I will never marry my first cousin,"
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Congenital and hereditary genetic diseases are becoming a significant health burden in India
In India’s urban areas, congenital malformations and genetic disorders are the third most common cause of mortality in newborns
Marriages between cousins (consanguinity) or within the close limits of a given community (endogamy) have made us, Indians, very susceptible to a certain type of (autosomal recessive) genetic conditions.
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The global incidence of genetic disorders is approximately 8 individuals every 100 people, a figure likely underestimated. If extrapolated to the huge Indian population of 1.2 billion (and counting), the number of individuals having genetic disease in India is around 960 lakhs!
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Considering the high birth rate in India (34 new born babies every minute), it can be extrapolated that around eight babies with an underlying genetic disease are born in India, every third minute.
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