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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Shah Rukh Khan, Kajol unveil ‘DDLJ’ sculpture at London’s Leicester Square
London (PTI): Bollywood stars Shah Rukh Khan and Kajol huddled under an umbrella on a rainy Thursday in London to unveil their bronze likeness from an iconic ‘Dilwale Dulhania Le Jayenge’ scene.
The sculpture of the duo joins Leicester Square’s ‘Scenes in the Square’ trail depicting memorable shots from some of the world’s most famous films, with ‘DDLJ’ marking a Bollywood first and the 30th anniversary of the 1995 box-office hit. It is in this popular London square that SRK as Raj and Kajol as Simran first cross paths unknowingly.
“DDLJ was made with a pure heart. We wanted to tell a story about love, how it can bridge barriers and how the world would be a better place if it had a lot of love in it, and I think this is why 'DDLJ' has had a lasting impact for over 30 years now," said Khan.
“Personally, 'DDLJ' is part of my identity, and it is humbling to see film, and Kajol and me, receiving so much love since it was released,” he said.
He expressed his gratitude to the Heart of London Business Alliance, behind the cinematic trail at Leicester Square, for celebrating ‘DDLJ’ and “immortalising” its lead stars.
“Seeing ‘DDLJ’ become the first Indian film to be honoured in the iconic Scenes in the Square trail is an emotional moment and has brought back so many memories.
"I feel immense pride knowing the film has been embraced around the world, and I want to share this moment with the entire cast and crew of ‘DDLJ’, my friend and director Aditya Chopra and the Yash Raj Films family. This is a moment I will never forget,” added Khan.
Kajol, joined by her daughter Nysa and son Yug, posed with Khan in front of the statue as she braved the rain in a green saree.
“It’s incredible to see ‘Dilwale Dulhania Le Jayenge’ continue to receive so much love, even 30 years later. Watching the statue being unveiled in London felt like reliving a piece of our history - a story that has truly travelled across generations,” said Kajol.
“Seeing it find its rightful place in Leicester Square, a location of such enormous significance to ‘DDLJ’, makes this moment even more special. For the film to be honoured in this way in the UK – the first Indian film to receive such recognition – is something that will forever stay in the hearts and minds of all the ‘DDLJ’ fans across the world,” she said.
Their statue, captured in a dancing pose from the hit song ‘Mehndi Laga Ke Rakhna’, joins the likes of Harry Potter, Bridget Jones, Mary Poppins, and Batman in what is dubbed as an ever-growing celebration of movie magic in a square packed with multiplex cinema screens.
“When ‘Dilwale Dulhania Le Jayenge’, DDLJ, was released 30 years ago, the film became a defining moment for Indian cinema and changed the face of the industry, capturing the hearts of everyone who saw it all over the globe," said Akshaye Widhani, CEO of Yash Raj Films.
“We’re thrilled to be the first Indian film to be represented in ‘Scenes in the Square’. It also marks 30 years of DDLJ, a film that has spread love and joy globally, and shows the cultural impact it has had in UK.
“We are honoured that our superstars and our film are being recognised on the world stage alongside the Hollywood elite, from Gene Kelly to Laurel & Hardy to Harry Potter. This statue will be a great way to express the international appeal of Indian movies and build bridges amongst communities through cinema,” he said.
Since its release in 1995, ‘DDLJ’ has become the longest-running film in Hindi cinema history.
Ros Morgan, Chief Executive at Heart of London Business Alliance, said: “We’re proud to welcome global megastars Shah Rukh Khan and Kajol to our Scenes in the Square trail.
"Dilwale Dulhania Le Jayenge is a cinematic phenomenon that has shaped generations, and London’s first tribute to Indian cinema honours a story whose magic continues to captivate audiences worldwide.”
It is a particularly special year for the film, with a musical based on the romance playing to packed houses at Manchester’s Opera House earlier this year. Aditya Chopra reprised his role as director of the English language stage production, ‘Come Fall In Love – The DDLJ Musical’, which revolved around the love story of Simran and Roger.
The script was a nod to the original as it followed Simran as a young British Indian woman who finds herself engaged to a family friend in India in an arranged marriage. However, the plot thickens when she falls in love with a British man named Roger.
Bade Bade Deshon Mein, Aisi Chhoti Chhoti Baatein Hoti Rehti Hain, Senorita!
— Shah Rukh Khan (@iamsrk) December 4, 2025
Thrilled to unveil the bronze statue of Raj & Simran at London’s Leicester Square today, celebrating 30 years of Dilwale Dulhania Le Jayenge (DDLJ)!
Incredibly delighted that DDLJ is the first Indian… pic.twitter.com/8wjLToBGYc
