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 Muslim Convention to be held in Bengaluru on May 16
Muslim organisations to release report on Congress govt’s three-year performance
Bengaluru: Major Muslim organisations and federations in Karnataka have decided to organise a large public convention titled ‘Karnataka Muslim Convention’ at Town Hall in Bengaluru on May 16. During the convention, a comprehensive report reviewing the three-year performance of the Congress government under the theme “What did the Congress government promise? What did it do? What next?” will be released.
According to a statement issued on Friday, no politicians will be invited to the convention. The report will be submitted to the government and all MLAs after the event.
The convention is being held at a time when the Congress government is nearing the completion of three years in office on May 20. Muslim organisations have expressed dissatisfaction, alleging that despite extending strong support to the Congress in bringing it to power, the community is being neglected.
The Convention is being organised at time when there are concerns over inadequate political representation for Muslims, alleged neglect of community demands, and the suspension of senior Muslim leaders who had worked for the party for decades.
The organisers said the convention aims to raise questions on what the Congress government has delivered so far and what further steps are expected from the government.
The decision to hold the convention was taken during a meeting held on May 6 at A J International Hotel in Shivajinagar, Bengaluru. Representatives of major Muslim organisations, associations, ulema bodies, federations, and members of the ad hoc committee of Karnataka Rajya Muslim Okkoota attended the meeting.
More than 75 representatives and delegates, including senior ulemas, jamaat leaders, lawyers, retired officials, journalists and members of the KRMO ad hoc committee, participated in the discussions.
Members of the KRMO ad hoc committee’s report preparation team and experts from different sectors presented a detailed report on the Congress government’s three-year performance. The report examined promises made to Muslims on ten major issues, the extent to which they were fulfilled, pending promises, alleged discrimination in representation, and the demands now being placed before the government.
The report covered issues such as the hijab ban, reservation cancellation, hate speech and hate crimes, budget allocation, political representation, waqf matters, the anti-cow slaughter law, anti-conversion law, scholarships and educational grants.
Participants offered suggestions and recommendations on various points, and necessary corrections to the report were accepted after detailed discussions.
The meeting also reportedly expressed strong dissatisfaction over the manner in which the Congress government has treated the Muslim community. Participants are said to have opined that if the government and the Congress party continue in the same manner, the community should keep its political options open.
It was later decided that the report would be officially released at the large public convention on May 16 under the title “Karnataka Muslim Convention – What did the Congress government promise? What did it do? What next?”
The organisers appealed to people from all districts of the state to participate in large numbers and send a strong message to the government and the Congress party through the convention.
They also decided that all organisations, jamaats and associations should work towards ensuring participation from every district in Karnataka.
The statement reiterated that no politicians would be invited to the May 16 convention and that the report on the Congress government’s three-year performance would be submitted to the Chief Minister, Deputy Chief Minister, ministers and MLAs after the event.
