When a DNA Rearrangement Becomes a Cure Map
How an Indian Genome Study Was Sold as a Breakthrough
The Times of India headline promised certainty: “Just 3% of genome holds key to non-syndromic autism.” Behind that headline was a study led by Jhanvi Shah, Frenny Sheth, Jayesh Sheth, Shweta Ramdas and Harsh Sheth, published in BMC Medical Genomics. It was backed by the Foundation for Research in Genetics and Endocrinology (FRIGE) in Ahmedabad, the Centre for Brain Research at the Indian Institute of Science in Bangalore, and collaborators at Apollo Hospitals, Navi Mumbai’s Tender Kinds Centre, and other private clinics. It is the first long-read sequencing project on autism in India.
Twenty-three autistic children were recruited. All had been tested before with older methods: karyotyping (looking at chromosomes under a microscope), Fragile-X testing (checking for a known single-gene condition), chromosomal microarray (scanning for missing or extra pieces of DNA), and exome sequencing (reading only the protein-coding parts of DNA). All had come back inconclusive. The new study ran them through Oxford Nanopore long-read sequencing, a newer method that reads very long stretches of DNA at once so scientists can see big changes that shorter tests often miss. Hundreds of thousands of changes in the DNA showed up for each child. Nearly all were filtered out. In the end, one was left: a big rearrangement in the DNA code—millions of letters long—next to a gene called SNAP25-AS1.
That rearrangement was present in autistic twins. It was present in their mother who is not autistic. It was absent in their father and their other sibling. On that basis, the study labeled it “uncertain.” In plain words: it might matter or it might not. The authors admit that these kinds of changes don’t explain much. They say long-read sequencing adds little to diagnosis. Yet the headline told the public a different story. A key to autism. A cure map disguised as news.
The Frame Never Bends
Autism here is not treated as life. It is treated as defect. From the first page the story is set: autism is mostly genetic, a puzzle waiting for solution. No matter how little is found, the answer is always assumed to be in DNA. When the data contradicted the model—the same rearrangement showing up in a non-autistic mother—the frame did not bend. The authors reached for the old “female protective effect.” Women can carry the defect silently. Men show it. The harm is not just in the sequencing. It is in the refusal to admit when the data does not support the frame.
A Machine Built for the Same Answer
This is not neutral science. It is a machine designed to keep asking the same question: where is autism in the genome? The selection makes that clear. Children with extra syndromes were excluded. Children with only language or sensory differences were excluded. Autism was narrowed to the kind most likely to be genetic. Variants were flagged if they matched SFARI databases or mouse experiments—systems that always assume autistic people are broken. The whole setup assumed the answer had to be genetic. When it wasn’t, the setup bent the story until uncertainty looked like discovery.
Beneficiaries and Missing Voices
Who benefits? The authors and their institutions, who can now cite India’s “first” long-read sequencing autism study. The Gujarat State Biotechnology Mission, which funded it, can call it progress. The Centre for Brain Research at IISc and FRIGE can claim status. Apollo Hospitals and private clinics can advertise their participation. The biotech pipelines can point to the headline to justify more investment. Who is harmed? Autistic people, whose existence is reduced to a fault in the code. Parents, who are told the answers lie in blood, never in housing, never in sensory care, never in dismantling compliance culture. What is missing? Autistic voices. Not one autistic person is quoted. Not one is asked what this work means for them. The absence is not oversight. It is structure.
When Minimal Becomes Monumental
The contradiction is sharp: the study admits its tiny clinical value. The newspaper translates that into certainty. “Minimal value” becomes “key to autism.” That is not just sloppy journalism. It is a system that cannot survive on modesty. Genomics must always present itself as the frontier. Small findings must be cast as breakthroughs. Even uncertainty must be called a key.
The Questions That Matter
If the best this study could deliver was one DNA rearrangement of uncertain importance, why is autism still framed as mainly genetic? How much public money is poured into sequencing projects while autistic people in India remain without housing, without reliable supports, without protection from coercive therapies? Why is so little research being done on access, dignity or autistic-led questions of resilience, burnout and recovery? If science insists autism is 80% heritable, who profits when parents are told their children are genetic traps? If women can carry the variant silently, what story is being written about who counts as “real” autistic and who counts as carrier of defect?
From Brain Wiring to Screening
The authors point to brain wiring. The SNAP25 gene, they note, helps with signals passed between brain cells. Mouse experiments show changes when this gene is altered. Autism gene databases list it as a candidate. All of that may be true. But truth at this level becomes building blocks for ideas about preventing autistic people. If autism can be tied to brain wiring, it can be tied to screening. If it can be tied to screening, it can be tied to prevention. The leap from “we don’t know if this matters” to “this proves autism risk” is not science. It is politics.
What If We Stopped Bending Uncertainty
The better questions are still waiting. What if genetic knowledge were used not to pathologize but to understand metabolic differences that could shape sensory care? What if research budgets followed autistic questions instead of genetic defaults? What if we stopped pretending the absence of certainty is discovery? What if uncertainty were allowed to stand, unbent, as evidence that autism is not reducible to blood?
The Question That Remains
The study’s own conclusion: minimal value. The newspaper’s headline: key to autism. That gap is the harm. When a giant rearrangement near one gene becomes a cure map, we are not watching science unfold. We are watching a deficit story repeat itself, dressed this time in Indian status for the institutions. The question is not what part of the genome explains us. The question is why science keeps looking there instead of here.