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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Modi should leverage his ties with world leaders to de-escalate war in West Asia: Omar Abdullah
Jammu (PTI): Jammu and Kashmir Chief Minister Omar Abdullah on Monday said India can play a meaningful role in de-escalation in West Asia, given Prime Minister Narendra Modi's strong relations with the warring countries and their neighbours.
He said Pakistan was leveraging ties with Iran and the United States, and that any effort towards ending the war should be welcomed.
"As I said in the House (Assembly), we would like the war to end as soon as possible. The role that the prime minister can play may not be possible for anyone else because of his good relations with all these countries," Abdullah told reporters on the sidelines of a function here.
He, however, said any escalation would not be easy to manage.
"Any such move by US President Donald Trump, despite the long history of Iran resisting external domination, would not be easy," the chief minister said.
Asked about Pakistan mediating in the war, he said, "I will simply say that if any country can play a role in preventing this war, no one should have any objection to it."
He added, "I will repeat what I said … our prime minister has good and close relations with all countries — whether it is Israel, the United States, Iran, or the countries around Iran. If those relationships can be used to make some progress and help ease the situation, it would be a good thing."
Abdullah said attacks by terror groups like Lashkar-e-Taiba and Jaish-e-Mohammed in India, as suggested by a report from the United States, are not unlikely.
Meanwhile, he asserted that any efforts to end the war, be it from Pakistan, must not be resisted.
"Pakistan is using its good relations with Iran and the United States to its advantage, and it has done so. How can we object to that? If that angle helps in stopping the war, would you want them not to act and let the war continue? We want the war to stop. If any country can play a role in that, it should. And if we can play an even better role, then we should do so," he said.
On unemployment in J-K, the chief minister said the issue cannot be resolved overnight, and government jobs alone are not the solution.
He stressed the need to explore alternative avenues, highlighting the importance of Mission Yuva in promoting entrepreneurship.
"Mission Yuva provides not just funding but also support in preparing DPRs and post-startup assistance, such as marketing. In just nine months, distributing Rs 1,000 crore and approving numerous schemes is a significant achievement," he said.
Abdullah credited the coordination between the government and Jammu and Kashmir Bank for the scheme's progress.
