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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LoP Ashoka accuses Karnataka govt of 'diverting' SC/ST funds for guarantees
Bengaluru (PTI): Leader of the Opposition in the Karnataka Assembly, R Ashoka, on Tuesday accused the state government of "diverting funds" meant for Scheduled Castes and Scheduled Tribes under the SCSP and TSP components to finance its guarantee schemes. He also alleged that the budget presented by Chief Minister Siddaramaiah has undermined the principle of social justice.
During the discussion on the 2026–27 state budget in the assembly, the BJP leader claimed that substantial portions of funds earmarked for Dalit welfare had been diverted for other schemes over the past four years.
He also questioned the implementation of allocations under the Scheduled Caste Sub-Plan (SCSP) and Tribal Sub-Plan (TSP), saying the government has "failed" to ensure that the money actually reached the intended communities.
“Today, the money here has been diverted. In this diversion of funds, social justice has been ignored. If the money meant for Dalits is looted, can that be called social justice?” he asked while criticising the government’s handling of SC/ST allocations.
According to the opposition leader, around Rs 14,198 crore had been diverted in the current financial year alone from SCSP and TSP allocations to various guarantee schemes announced by the government.
Listing the expenditure under these programmes, the former Deputy CM said Rs 8,296.32 crore had been allocated for the Gruha Lakshmi scheme, Rs 1,537 crore for Shakti, Rs 1,612 crore for Anna Bhagya, Rs 2,591.6 crore for Gruha Jyothi and Rs 1,062 crore for Yuva Nidhi.
“In total, Rs 14,198 crore has been diverted this year,” he said.
He further claimed that the diversion of funds had increased over the years.
“In 2023–24, Rs 11,144 crore was taken from SC/ST funds. In 2024–25, Rs 14,282.68 crore was taken. In 2025–26, Rs 13,343.84 crore was taken. In 2026–27, Rs 14,198.97 crore has been taken.”
“This amount keeps increasing year after year. In total, Rs 53,059.45 crore belonging to SC/ST communities has been taken during Siddaramaiah’s tenure,” he added.
Ashoka said that although the budget documents projected large allocations for Dalit welfare, the actual funds reaching the beneficiaries were significantly lower.
The government had earmarked Rs 44,632 crore for SC/ST communities in 2026–27, but once the diversion towards guarantee schemes was removed, the effective amount available was much less, he added.
The BJP leader also referred to a review meeting on January 31 to examine the utilisation of SCSP and TSP funds.
As per the review, Ashoka said only a part of the sanctioned amount had actually been released and spent.
“For SCSP, Rs 29,872 crore was allocated, but by January 27, only Rs 16,699 crore had been released, and the expenditure was Rs 15,391 crore."
Similarly, under the Tribal Sub-Plan, he alleged that Rs 11,900 crore had been allocated, but only Rs 6,521 crore was released and Rs 6,002 crore spent by the end of January.
“Even after eleven months, only about 50 per cent of the funds were released by the Finance department.”
Ashoka also criticised the allocation of SC/ST funds to departments and schemes that he said had little direct relevance to the welfare of those communities.
These included wildlife conservation programmes in the forest department, the tiger conservation project, maintenance of hospital buildings, and IT policy formulation.
“How are Dalits related to wildlife conservation? Are there SC tigers and ST elephants? How can funds meant for Dalits be used for tiger conservation?” he asked.
He also objected to funds being allocated from SC/ST components to institutions such as the Sanjay Gandhi Trauma and Orthopaedic Institute in Bengaluru and for Public Works Department buildings.
The opposition leader also charged that the government hiked taxes and prices of various commodities and services ranging from milk to petrol, vehicles, drinking water, sewerage cess, electricity, metro rail and bus fare, school and college fees, property taxes in Bengaluru, property e-Khata fee, A-Khata conversion, exam fee and birth and death certificate issuance.
“People are being taxed for digging cellar. The mines and geology department has issued notices to people. This is unheard of for me,” Ashoka said.
