Brochure | Genetic Disorders | Rare diseases

Understanding Down Syndrome: The genetic disorder affecting kids

2025-03-31 - 2025-03

The combination of medical advancement with educational backing and societal acceptance allows individuals with Down syndrome to reach higher levels of independence and social integration. Read below to find out more.
Down syndrome is a genetic disorder that occurs when a person receives an extra copy of their chromosome 21, known as Trisomy 21. The additional genetic material disrupts typical development, which produces unique physical traits in addition to different levels of intellectual impairment. The chromosomal condition of Down syndrome represents the most common genetic syndrome that affects people worldwide, regardless of their racial heritage, gender identity, or economic status

‘What did Kanchan chachi die of’: When Twinkle Khanna said she investigated Akshay Kumar’s genes before wedding; role of partner’s medical history in marriage decisions

2025-03-28 - 2025-03

Married for over 18 years, Akshay Kumar and Twinkle Khanna have long been considered one of Bollywood’s most adored couples. While Akshay is known for his discipline, fitness, and action-packed career, Twinkle is equally celebrated for her sharp wit and candid nature.

The two tied the knot on January 7, 2001, in an intimate ceremony attended by close friends and family, and the news of their wedding only became public much later. What many didn’t know until years later, however, was that Twinkle had taken an unusually pragmatic approach before saying “yes” to Akshay.

Appearing on Koffee With Karan in 2016, Twinkle revealed that she had investigated her soon-to-be husband’s family health history before making her decision. She explained, “The reason you get married is primarily to have children. So, you are introducing this genetic strain into your family line. I wanted to know what diseases run in his family. At what age did his uncles lose their hair What did Kanchan chachi die of"

US FDA approves first treatment for rare genetic disorder Prader-Willi syndrome

2025-03-27 - 2025-03

March 26 (Reuters) - The U.S. Food and Drug Administration on Wednesday approved Soleno Therapeutics' (SLNO.O), opens new tab drug to treat a rare genetic disorder, making it the first treatment available for patients who experience feelings of intense and persistent hunger.
The drug, to be called Vykat XR, treats hyperphagia, the hallmark symptom of the Prader-Willi syndrome, a genetic disorder caused by full or partial deletions on chromosome 15 that affect the regulation of gene expression, or how genes turn on and off.
The debilitating condition, which affects about 50,000 people in the U.S., impacts everyday aspects of life, such as eating, behavior and mood.
Starting in April 2025, Soleno plans to make the drug available in the U.S. for patients aged four years and older who have PWS with hyperphagia. The drug will have an annual average cost of $466,200 and will be dosed as per patients' weight, the company said.
The syndrome's symptoms appear immediately, with infants born with low muscle tone and an inability to breastfeed. As patients grow older, children develop hyperphagia, a feeling of insatiable hunger persisting even after meals. This could occur as early as age four but, on average, starts at about age eight and then continues into adulthood.

Genetic testing firm 23andMe files for bankruptcy

2025-03-26 - 2025-03

Gene testing firm 23andMe said on Sunday it had filed for Chapter 11 bankruptcy protection in order to facilitate its sale, after years of struggling to find a sustainable business model.

In a statement announcing the bankruptcy, the firm said its CEO, Anne Wojcicki, had resigned effective immediately. She will remain on the company’s board of directors.

“After a thorough evaluation of strategic alternatives, we have determined that a court-supervised sale process is the best path forward to maximize the value of the business,” Mark Jensen, chair and member of the Special Committee of the board of directors, said in the statement.

Part of the genetic risk for schizophrenia acts through the placenta

2025-03-24 - 2025-03

The study, which involved 28 researchers from 18 institutions across Europe and the United States, highlights the placenta as a key element in neuropsychiatric development. The research has demonstrated that specific epigenetic modifications in the placenta, particularly DNA methylation, can influence the expression of genes associated with psychiatric disorders. These findings suggest that genetic risk may already manifest during the prenatal stage.

Epigenetic modifications are chemical changes in DNA and its associated proteins that regulate gene activity without altering their sequence. One of the most studied modifications is DNA methylation, a process in which methyl groups small molecules composed of one carbon and three hydrogen atoms are added to specific regions of the DNA.

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Understanding Down Syndrome: The genetic disorder affecting kids

‘What did Kanchan chachi die of’: When Twinkle Khanna said she investigated Akshay Kumar’s genes before wedding; role of partner’s medical history in marriage decisions

US FDA approves first treatment for rare genetic disorder Prader-Willi syndrome

Genetic testing firm 23andMe files for bankruptcy

Part of the genetic risk for schizophrenia acts through the placenta

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