genetic disorder

The tool works much like the “cut-copy-paste”, or “find-replace” functionalities in common computer programmes.

Explained: In a first, how a customised gene-editing tool was used to treat 9-month-old boy

May 27, 2025 11:44 am

In 2012, scientists Jennifer Doudna and Emmanuelle Charpentier replicated this mechanism found in microbes to develop a gene-editing tool, which they called CRISPR-Cas9

'It was incredibly painful and humiliating': How this Texas woman suffered a rare genetic disorder until she found the cure in Pune

May 18, 2025 12:21 pm

Alyssa Pettigrew faced challenges due to a rare genetic disorder called familial adenomatous polyposis, which led to the removal of her colon.

Rare genetic disorder detected in Brazilian town where 'everyone is a cousin'

May 12, 2025 8:43 am

Many people in Serrinha dos Pintos have been unable to walk for decades and no one knew why.

Chief Justice of India DY Chandrachud says his daughters have nemaline myopathy: 'The diagnostic test is so invasive and painful'

October 15, 2024 7:21 pm

Nemaline myopathy is hereditary, said Dr Mansi Shah, consultant neurologist, Parkinson’s Disease and movement disorders specialist, Wockhardt Hospitals, Mira Road

Nails can signal a lot about your health, including your chances of getting cancer

May 21, 2024 5:20 pm

Dr Palleti Siva Karthik Reddy, MBBS MD, General Medicine and consultant physician Bengaluru, says, “Recognising these nail tumours as markers for the syndrome helps improve our understanding and offers a non-invasive early detection method.”

The snail-shaped cochlea of the inner ear

Five children born deaf can now hear, thanks to just one injection

January 28, 2024 8:30 am

Six children who were born deaf were given a revolutionary gene therapy treatment in the form of an injection in the ear. Now, five of them have regained their hearing.

Baby girl born with 26 fingers in Rajasthan; know more about the rare condition

September 21, 2023 2:02 pm

Polydactyly is difficult to prevent because it is mostly a genetic disorder, said Dr Shobha Gupta, medical director and IVF specialist, Mother's Lap IVF Centre New Delhi and Vrindavan

World Haemophilia Day: Why a 45-year-old man travels 254 km to Pune to prevent his bleeding

April 17, 2023 11:15 am

‘Patients with this rare genetic bleeding disorder need replacement factor support for any emergency, otherwise their bleeding could turn fatal. This is missing at smaller centres. Also we must insist on antenatal diagnosis to prevent this disease’ says clinical haematologist Dr Vijay Ramanan

Bengaluru: Seven-month-old baby diagnosed with extremely rare genetic disorder

January 25, 2022 7:38 pm

Owing to the minimal therapeutic intervention available for the BENTA disease, the treatment given to Vijayendra is experimental and based on his reactions to previous treatments, said doctors.