New genetic disorder identified in human patient
New York, Sep 22: 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.
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.
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.
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Karnataka sets up India's first Cyber Command Centre to tackle surge in cybercrimes
Bengaluru: In a significant step toward strengthening cybersecurity, Karnataka has established the country’s first Cyber Command Centre. This pioneering initiative aims to address the alarming rise in cybercrime cases across the state.
The newly-formed Cyber Command Centre will focus on a broad range of digital threats, including cyber fraud, hacking, identity theft, online stalking, sextortion, deepfake-related crimes, misinformation, data breaches, among others. It comes as Karnataka, particularly its capital Bengaluru, continues to grapple with a spike in cybercrime incidents—reportedly accounting for nearly 20% of all such cases recorded in India’s megacities. Over the past four years, the state has registered more than 52,000 cybercrime cases, the highest in South India.
The Cyber Command will operate under the leadership of an IPS officer of the rank of Director General of Police.
As part of the restructuring, 43 CEN (Cyber, Economic and Narcotics) police stations across the state will now function as designated cybercrime units.
Headquartered at the CID building on Palace Road, the Cyber Command Centre will serve as a hub for coordinating the state’s cybercrime prevention and investigation efforts. DGP (Cyber Command) will report to the Additional Chief Secretary, Home Department and not the Director General and Inspector General of Police (DG&IGP), Karnataka State Police.
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