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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Bill to regulate deepfakes tabled in Lok Sabha
New Delhi (PTI): A Private Member's Bill seeking a clear legal framework for regulation of deepfakes has been introduced in the Lok Sabha.
The Regulation of Deepfake Bill, introduced by Shiv Sena leader Shrikant Shinde in the House on Friday, aims to protect citizens by mandating prior consent from individuals depicted in deepfake content.
"Misuse of deepfakes for harassment, deception and misinformation has escalated, creating an urgent need for regulatory safeguards," Shinde said.
The Bill also lists penalties for offenders creating or disseminating deepfake content with malicious intent.
"With advancements in artificial intelligence and deep learning, deepfake technology has emerged as a significant tool for media manipulation. While the technology has potential applications in education, entertainment and creative fields, it also poses severe risks when misused, threatening individual privacy, national security and public trust," Shinde said in the statement of objects and reasons in the Bill.
The proposed Bill seeks to establish a clear legal framework to govern the creation, distribution and application of deepfakes in India, said Shinde, a three-term Lok Sabha member from Kalyan.
The Bill also seeks to establish the Deepfake Task Force, a dedicated body to combat national security implications and evaluate the influence of deepfakes on privacy, civic participation, and potential election interference.
The task force will collaborate with academic and private sector institutions to develop technologies that detect manipulated content, thereby promoting credibility in digital media.
The Bill also proposes to establish a fund to support public and private sector initiatives in the detection and deterrence of advanced image manipulation.
A Private Member's Bill is a procedure of Parliament that enables lawmakers, who are not ministers, to draw attention to issues that might not be represented in Government Bills or to highlight the issues and gaps in the existing legal framework that require legislative intervention.
