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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No decision yet on closing new universities: CM Siddaramaiah
Bengaluru, Mar 14 (PTI): Karnataka Chief Minister Siddaramaiah on Friday told the Legislative Assembly that a decision will be taken on the closure or continuation of new universities established in the state, during the previous BJP government, based on the findings of the cabinet sub-committee.
He said Deputy Chief Minister D K Shivakumar headed cabinet sub-committee tasked with reviewing the status of public universities in the state, is yet to submit its report to the government.
The chief minister said this in the Assembly when BJP MLA and former Higher Education Minister C N Ashwath Narayan sought discussion on the issue under an adjournment motion.
"We are not closing...seven new universities that were opened by them (BJP). We will not close any university. Whether to continue them or not a cabinet sub-committee has been formed headed by the Deputy Chief Minister. They have not yet given the report," Siddaramaiah said.
He said, "Even before the report is submitted, they (BJP) have developed concerns. We will not close. To look into whether -- to continue the universities or not, it (the cabinet sub-committee) has been formed."
At this point, several BJP legislators, including Basavanagouda Patil Yatnal, questioned as to what the CM meant by saying that universities will not be closed, and the cabinet sub-committee has been formed to look into whether to continue the universities or not.
However, the CM responding to this, maintained that the cabinet sub-committee has not submitted the report and the matter has not been discussed in the cabinet yet.
"I feel it is premature to discuss this. There is no need for discussion on this by bringing an adjournment motion. It is not that important and it is not a matter of recent occurrence. There has been no decision yet," he said.
There is no need for any worry, Siddaramaiah further said, "Once the cabinet sub-committee report comes, we will decide in the cabinet whether to continue or not."
Intervening at this point, Leader of Opposition R Ashoka, said the CM's statement on the issue is different from what has been said by the Deputy Chief Minister and the Higher Education Minister, and that has caused the concern. "What the CM seems to be saying is we will close the door but won't lock it..."
Siddaramaiah, however, reiterated that a cabinet sub-committee has been formed. After considering the pros and cons, they will submit a report. "The cabinet will then examine it and decide whether to continue (universities) or not."
According to reports, at least nine new universities that are said to be on the radar are -- Koppal, Bagalkot, Haveri, Kodagu, Hassan, Chamarajanagar, Nrupathunga, Mandya and the Maharani cluster.
Shivakumar, last week, told the Assembly that the government would merge the new universities with their parent institutions. "We are just merging universities because they are not viable," he had said.
Earlier, as Narayan tried to push for discussion under an adjournment motion on the issue, Speaker U T Khader suggested that the issue can be raised during the discussion on budget, as there has already been some discussion on the matter.
Siddaramaiah too suggested the issue can be discussed during the budget discussion. However, Narayan, wanting to make preliminary mention or submission on the subject, stressed on the importance of universities for the all round development of a region and people living there, and said, there are concerns that the government is planning to shut down some universities citing financial reasons.
Higher Education Minister M C Sudhakar said Narayan and the BJP were trying to raise the matter unnecessarily as it has become a "prestige issue" for them.
The Speaker, however, later said that he would allow discussion on the matter next week.
