Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre
Abstrak
Abstract Background Rare disorders comprise of ~ 7500 different conditions affecting multiple systems. Diagnosis of rare diseases is complex due to dearth of specialized medical professionals, testing labs and limited therapeutic options. There is scarcity of data on the prevalence of rare diseases in different populations. India being home to a large population comprising of 4600 population groups, of which several thousand are endogamous, is likely to have a high burden of rare diseases. The present study provides a retrospective overview of a cohort of patients with rare genetic diseases identified at a tertiary genetic test centre in India. Results Overall, 3294 patients with 305 rare diseases were identified in the present study cohort. These were categorized into 14 disease groups based on the major organ/ organ system affected. Highest number of rare diseases (D = 149/305, 48.9%) were identified in the neuromuscular and neurodevelopmental (NMND) group followed by inborn errors of metabolism (IEM) (D = 47/305; 15.4%). Majority patients in the present cohort (N = 1992, 61%) were diagnosed under IEM group, of which Gaucher disease constituted maximum cases (N = 224, 11.2%). Under the NMND group, Duchenne muscular dystrophy (N = 291/885, 32.9%), trinucleotide repeat expansion disorders (N = 242/885; 27.3%) and spinal muscular atrophy (N = 141/885, 15.9%) were the most common. Majority cases of β-thalassemia (N = 120/149, 80.5%) and cystic fibrosis (N = 74/75, 98.7%) under the haematological and pulmonary groups were observed, respectively. Founder variants were identified for Tay-Sachs disease and mucopolysaccharidosis IVA diseases. Recurrent variants for Gaucher disease (GBA:c.1448T > C), β-thalassemia (HBB:c.92.+5G > C), non-syndromic hearing loss (GJB2:c.71G > A), albinism (TYR:c.832 C > T), congenital adrenal hyperplasia (CYP21A2:c.29–13 C > G) and progressive pseudo rheumatoid dysplasia (CCN6:c.298T > A) were observed in the present study. Conclusion The present retrospective study of rare disease patients diagnosed at a tertiary genetic test centre provides first insight into the distribution of rare genetic diseases across the country. This information will likely aid in drafting future health policies, including newborn screening programs, development of target specific panel for affordable diagnosis of rare diseases and eventually build a platform for devising novel treatment strategies for rare diseases.
Topik & Kata Kunci
Penulis (51)
Jayesh Sheth
Aadhira Nair
Frenny Sheth
Manali Ajagekar
Tejasvi Dhondekar
Inusha Panigrahi
Ashish Bavdekar
Sheela Nampoothiri
Chaitanya Datar
Ajit Gandhi
Mamta Muranjan
Anupriya Kaur
Manisha Desai
Mehul Mistri
Chitra Patel
Premal Naik
Maulin Shah
Koumudi Godbole
Seema Kapoor
Neerja Gupta
Sunita Bijarnia-Mahay
Sandeep Kadam
Dhaval Solanki
Soham Desai
Anand Iyer
Ketan Patel
Harsh Patel
Raju C. Shah
Shalmi Mehta
Ruchi Shah
Riddhi Bhavsar
Jhanvi Shah
Mili Pandya
Bhagyadhan Patel
Sudhir Shah
Heli Shah
Shalin Shah
Shruti Bajaj
Siddharth Shah
Nilam Thaker
Umesh Kalane
Mahesh Kamate
Vykunta Raju KN
Naresh Tayade
Sujatha Jagadeesan
Deepika Jain
Mitesh Chandarana
Jitendra Singh
Sanjiv Mehta
Beena Suresh
Harsh Sheth
Akses Cepat
- Tahun Terbit
- 2024
- Sumber Database
- DOAJ
- DOI
- 10.1186/s13023-024-03300-z
- Akses
- Open Access ✓