India’s Silent Village Shows What Happens When Genetic Clusters Go Unaddressed

DHADKAI, India—In a remote mountain hamlet nestled in the rugged beauty of Jammu and Kashmir, Mohammad Aftab begins his mornings tending to cattle—work that sustains his family, but does not reflect his true calling. Aftab, who is about 30 years old, is a trained mason, widely regarded as one of the area’s most skilled. Yet he rarely works beyond Dhadkai’s narrow paths—all because of a hearing and speech impairment that he’s lived with since childhood. 

“He was like this from the beginning,” says Aftab’s nephew, Mohammad Ali, who explains that he cannot work outside the village because of the communication barrier. “That’s why, despite being really good at this job, he hardly gets to put it to use,” Ali says.

But in Dhadkai, Aftab is far from alone. Often called the “Silent Village of India,” Dhadkai is known not only for its breathtaking landscape of steep hills and dense forests, but also for an unusually high number of residents who cannot hear or speak. Out of about 2,000 people who live in the village, more than 90 are estimated to live with hearing and speech impairments—an extraordinary concentration in a small, close-knit community. In Aftab’s immediate family alone, all four of his siblings share Aftab’s condition, even though their parents have no hearing or speech impairments.

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For global health experts, the village represents more than a local curiosity. It raises urgent questions about genetics, early screening, intergenerational health patterns, and the gaps in rural disability care that allow conditions such as hearing impairment to persist largely unaddressed.

Most of Dhadkai’s residents belong to the Gujjar community, one of the largest tribal groups in the region. Traditionally pastoralists, the Gujjars rear cattle and buffalo and often migrate seasonally, moving to higher mountain pastures in summer and descending to the plains in winter. According to India’s 2011 Census, Gujjars, along with the closely related Bakarwal community, make up nearly 12% of Jammu and Kashmir’s population, with Gujjars forming the largest Scheduled Tribe in the territory. They are not a marginal sliver of society; they are a significant part of its rural and tribal backbone.

For years, the hearing condition was attributed to fate, environment, or lack of medical care. But a 2017 genetic study published by the Journal of Indian Speech-Language & Hearing Association offers a clearer explanation. 

One of the lead researchers, Sunil Raina, MD, has been working on hearing loss in the community since 2009, when he worked as an assistant professor at a medical college in Jammu. “A few patients from the village had approached us [for treatment], and there were reports of an unusually high number of people with hearing impairment. A small group of us, led by my colleague Dr. Sushil Razdan, spent a few days in the village collecting blood samples,” says Raina.

The team hypothesized that they might find a specific genetic defect responsible, but when they tested a small, randomly selected group of people, they found multiple genes that could be responsible in some of the patients. The team had published the preliminary findings—the first scientific paper on hearing loss in Dhadkai—in 2012.

A few years later, the Indian Council of Medical Research approached the team of doctors to conduct a full-scale investigation. 

“Between roughly 2012 and 2018, we collected around 600 blood samples from the village and carried out detailed genetic analysis,” says Raina, who was leading the study. “Again, we were surprised. It was not just one gene defect; there were multiple mutations involved. That made the genetic picture far more complex than we had initially assumed.”

Researchers analyzed DNA from affected families and identified a harmful change in the OTOF (otoferlin) gene. This gene plays a crucial role in how the inner ear transmits sound signals to the brain. When a child inherits two copies of this gene that carry the mutation––one from each parent––a child is born with hearing loss.

This pattern is known as autosomal recessive inheritance, meaning parents can carry the altered gene without having any hearing problems themselves. If both parents carry the same mutation, there is a chance their child may inherit two copies and be affected.

Raina says that the solution might take time, but at this point, the best long-term option would be gene therapy, working directly at the level of the gene to correct the defect. But gene therapy is not yet widely available in India, and when it is, it is only for life-threatening diseases. Raina suggested a more immediate and practical approach would be an intervention at the premarital level.

India has nearly 4,600 to 5,000 distinct populations, many of which have practiced endogamy, marrying within the same community, for thousands of years. “If we can identify carriers through genetic screening before marriage, families can make informed choices. If one partner carries the mutation and the other does not, the likelihood of having an affected child drops significantly. Prevention, in many ways, may be the most realistic starting point,” Raina says. 

As Kumaraswamy Thangaraj, a senior scientist at the Centre for Cellular and Molecular Biology in Hyderabad, explains, “Over time, endogamy allows certain recessive genetic mutations to become more common within specific groups. People may appear completely healthy but still carry the mutation and unknowingly pass it to their children. In smaller or more isolated communities, that can lead to a higher number of people developing the same condition, such as congenital hearing impairment.”

What makes Dhadkai unusual is the sheer number of affected individuals.

“The most practical intervention in such communities is not advanced treatment but prevention,” Thangaraj says. “Through genetic counseling, carrier screening, and prenatal diagnosis, families can understand the risks before a child is born. Over time, these measures can significantly reduce how frequently certain mutations appear in a population.”

But it also raises pressing public health questions. The village has limited access to routine newborn screening, genetic counseling, or early hearing intervention services—support systems that, in many countries, help families make informed decisions and provide children with assistive technologies or language support within the first months of life.

In the silence of Dhadkai’s mountain valleys, the issue is not only one of biology but also of access and awareness, and whether rural health systems are equipped to respond when science finally provides answers.

A few houses away from Aftab’s home lives 35-year-old Shabir Ahmad, who, like many others in the village, has been deaf and unable to speak since childhood. 

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Shabir is married to a woman who does not have a hearing impairment. Together, they have two children, both of whom can hear and speak, and are described by their teachers as bright and active in school. Their presence complicates the assumption that every family in the village will inevitably pass on the condition.

But while the children are thriving academically, the family’s economic reality is fragile. Shabir and his wife struggle to afford school expenses; the children’s grandfather has stepped in to cover their educational costs, ensuring they remain in school.

In a village where disability, poverty, seasonal mobility, and limited access to specialized health care intersect, families like Shabir’s illustrate both the genetic complexity of the condition and the social consequences that follow. Hearing loss is not only a medical issue—it shapes livelihoods, marriage prospects, and intergenerational opportunity.

“Gene therapy is scientifically promising, but it remains extremely expensive and difficult to deploy at scale, even in developed countries,” Thangaraj says. “India does have a National Policy for Rare Diseases [which recognizes the need for better diagnosis and financial support for certain genetic conditions], but implementation is complicated, and hearing loss often falls outside the policy’s definition of a rare disease.”

Hearing loss, unless linked to a high-profile rare disease, often receives limited targeted attention—especially in remote tribal belts, according to Thangaraj. In geographically isolated communities like Dhadkai, where marriages often take place within extended kinship networks, certain genetic traits can quietly become concentrated over generations. Without early diagnosis and counseling, such patterns may continue.

Dhadkai is not just a “silent village.” It is a reminder that when large communities like the Gujjars remain at the margins of structured health systems, genetic patterns can become entrenched before systems respond. Science has offered clarity. What remains uncertain is whether policy and public health will move quickly enough to meet the needs of people living with its consequences.

Editor's Note: A previous version of the story incorrectly identified Surender Kumar, MD, and misspelled Sushil Razdan's last name. GHN regrets the errors.

Safina Nabi is an independent multimedia journalist based in Kashmir; her reporting on this piece was supported by a National Press Foundation Rare Disease Reporting Fellowship. This piece is also part of Global Health NOW’s Local Reporting Initiative, made possible through the generous support of loyal GHN readers. 

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