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First-cousin Marriages up risk of passing Genetic Disorders to their offspring

According to World Health Organization (WHO), at least 10 infants in every 1,000 live births suffer from some or the other genetic disorders

Marriage(Representational Image). Pixabay

New Delhi, Sep 28, 2016: Consanguineous marriages or marriages between first cousins have a higher risk of passing genetic disorders to their offspring, revealed a study by Igenomix on Wednesday.

According to the reproductive genetic laboratory giant Igenomix, in such cases, if both the parents are carriers of the same mutation (disorder), the chances that the child will be affected from a disorder are as high as 25 per cent. The affected child may not lead a normal healthy life.

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“Babies born to consanguineous couples have a higher risk of passing genetic disorders to their offspring. In a research, 17 per cent of the couples in case of consanguineous marriages have been found with a high risk of transmitting genetic disorders to their child,” Rajni Khajuria of Igenomix said in a statement.

“Consanguineous marriage increases the incidence of many genetic disorders like Retinitis Pigmentosa, Leber Congenital Amaurosis, Stargardt disease and Usher syndrome,” she added.

According to World Health Organization (WHO), at least 10 infants in every 1,000 live births suffer from some or the other genetic disorders. Most of these disorders are fatal and can also cause disability for a lifetime. What is worse is that many remain unaware to these disorders till the time they have an affected child.

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“Genetic disorders pass on from generation to generation. One could be a carrier of a genetic disorder and still lead a healthy life. Doctors say that they often come across people who are Thalassemia minor patients and they only get to know while being treated for some other problem later in their lives,” Khajuria added.

According to Igenomix researchers, they have noticed a peculiar distribution pattern of genetic diseases in families where marriage between close relatives is a common scenario.

“These disorders cannot be cured but can surely be prevented, by running a simple blood test before planning a child. IGENOMIX’s Carrier Genetic Test (CGT), helps to determine if both the parents are carrier,” said Khajuria.

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She added that if both turn out to be a carrier, then the next step for them is PGD (Preimplantation Genetic Diagnosis), which is carried out to select those embryos that are healthy. (IANS)

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New Genetic Disorder Found in Human Patient

The original ODC1 mouse model was developed by Thomas G. O'Brien in 1995 at the Lankenau Medical Research Centre in Pennsylvania

New ML-tool uses DNA to predict height and cancer risk. Pixabay

In a first, US researchers have identified a new genetic disorder, which was previously described in animal models, in a human patient.

Researchers from the Michigan State University found that the disorder is caused by mutations in a gene known as ornithine decarboxylase 1 (ODC1).

It is defined by a number of clinical features including large birth weight, enlarged head size, hair loss, reduced muscle strength, skin lesions, hearing loss and developmental delays.

“This remarkable case represents the first human example of a disorder that was described by researchers in a transgenic mouse model more than 20 years ago,” said Andre Bachmann, Professor at the varsity.

However, the disorder is, as of yet, unnamed, and its long-term effects, which include impacts on the neurological system, are not completely known.

The disorder was first identified on an 11-month-old baby girl in Michigan.

In the study, published in the American Journal of Medical Genetics Part A, blood samples for testing were drawn at age 19 months and 32 months.

Gene (Representational image). IANS

Two developmentally normal, age/gender matched patients that were being sedated for outpatient same-day procedures served as controls.

Red blood cells obtained from the patient showed elevated ODC protein and polyamine levels compared to healthy controls.

“The ODC1 gene plays an important role in a number of physiological and cell developmental processes including embryo and organ development,” said Caleb Bupp, medical geneticist at Spectrum Health — a US-based health care company.

The study also showed that the ODC inhibitor DFMO — a water soluble — and US Food Drug Administration (FDA)-approved drug may serve as a disease-modifying drug, and an early therapeutic trial in a new diagnosis may prevent some of the clinical symptoms.

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DFMO has been used for many years in the treatment of trypanosomiasis — a tropical disease transmitted by biting insects and more recently entered clinical trials for pediatric neuroblastoma and colon cancer.

In mice, DFMO prevented hair loss and also partially restored hair growth and is considered a well-tolerated drug.

The original ODC1 mouse model was developed by Thomas G. O’Brien in 1995 at the Lankenau Medical Research Centre in Pennsylvania. (IANS)