NIH study found toxic protein linked to muscular dystrophy and arhinia Isra Zaman20 Feb 2023 9:30 AM ISTFacioscapulohumeral muscular dystrophy or FSHD type 2 (FSHD2) is an inherited form of muscular dystrophy that causes progressive muscle weakness....
Hope for patients with Methylmalonic aciduria Isra Zaman28 Jan 2023 9:15 AM ISTThe University Children's Hospital Zurich is one of the leading global centers for diagnosing and treating Methylmalonic aciduria (MMA), a metabolic...
Apollo Hospitals launches Genomics Institutes in Navi Mumbai Kajal Rajput15 Jan 2023 12:00 PM ISTThe Apollo Genomics Institutes will help individuals, couples and families understand the medical, psychological, familial and reproductive...
FDA approves OLPRUVA for patients living with urea cycle disorder Dr. Kamal Kant Kohli5 Jan 2023 9:00 AM ISTThe US Food and Drug Administration (FDA) has approved Olpruva (sodium phenylbutyrate) as an oral suspension for the treatment of patients living with...
Noida: Child PGI gets Genetic lab, counselling facility for Rare Genetic Disorders Adity Saha26 July 2022 9:30 AM ISTNoida: In a move to streamline the process of identification and investigation of rare genetic disorders among children, the Postgraduate...
Genomic sequencing effective at hearing loss detection in newborns? Dr. Nandita Mohan15 July 2022 9:00 AM ISTHearing loss, including sensorineural and conductive hearing loss, is a common complication among newborns worldwide.1 The incidence is estimated to...
Postoperative mortality likely in children undergoing tonsillectomy? Dr. Nandita Mohan22 Jun 2022 10:00 AM ISTThe increasing rates of postoperative death in children under going tonsillectomy is uncertain. Mortality rates are not separately reported for...
Bipolar disorder may be associated with Turner syndrome, hints Hindawi case report. Dr. Shivi Kataria28 Feb 2022 4:46 PM ISTTurner syndrome (TS) is an X-linked chromosomal abnormality with a global prevalence of 1/2000 live-born girls. The physiological symptoms of TS have...
Umbilical cord blood successfully treats rare genetic disorders: Study Hina Zahid16 July 2020 10:30 PM ISTPITTSBURGH - Researchers at UPMC Children's Hospital of Pittsburgh found that infusing umbilical cord blood -- a readily available source of stem...
Draft policy: Compulsory genetic screening of pregnant women to curb genetic disorders Medical Dialogues Bureau23 Aug 2018 1:40 PM ISTNew Delhi: The Centre has prepared a draft policy proposing compulsory genetic screening of all pregnant women to prevent inherited disorders such as...
Understanding Orphan Diseases: What National Rare Disease policy says Medical Dialogues Bureau9 March 2018 5:16 PM ISTNew Delhi: Rare diseases, which are often referred to as orphan diseases, are estimated to have impacted 72-96 million people in India. The Indian...
60 genetic disorders cause skin and nervous system problems savita thakur thakur24 Jan 2016 11:01 AM ISTOne of the most common genetic disorders is called neurofibromatosis that causes brown spots on the skin and benign tumours on the brain, spinal cord...
