genetic disorder

GENETIC DISORDER NEWS

'Doctor, it happens after I eat sweets': Neurologist shares rare case involving 33-year-old man that affects roughly 1 in 100,000 people

October 17, 2025 2:29 pm

The symptoms worsen after food, exercise, or weather changes, in case of hypokalemic periodic paralysis

Gujarat Hardlook | Prenatal testing: A window to the future, a burden of choice

September 15, 2025 7:31 am

A study on prenatal diagnosis of rare genetic disorders, covering 10 states and two Union Territories, found that one in four foetuses had genetic anomalies. While some couples opt for testing and even termination, most live with these conditions

This rare genetic disorder causes tree-bark like lesions on skins: Dermatologist explains causes, prevention, impact

September 14, 2025 5:00 pm

With fewer than 600 cases worldwide, this skin disorder still sparks fear and stigma — but a dermatologist helps separate fact from fiction.

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.”

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

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