Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Harsh J ShethAadhira NairFrenny ShethManali AjagekarTejasvi DhondekarInusha PanigrahiAshish BavdekarSheela NampoothiriChaitanya DatarAjit GandhiMamta MuranjanAnupriya KaurManisha DesaiMehul MistriChitra PatelPremal NaikMaulin ShahKoumudi GodboleSeema KapoorNeerja GuptaSunita Bijarnia-MahaySandeep KadamDhaval SolankiSoham DesaiAnand IyerKetan PatelHarsh PatelRaju C ShahShalmi MehtaRuchi ShahRiddhi BhavsarJhanvi ShahMili PandyaBhagyadhan PatelSudhir ShahHeli ShahShalin ShahShruti BajajSiddharth ShahNilam ThakerUmesh KalaneMahesh KamateVykunta Raju KnNaresh TayadeSujatha JagadeesanDeepika JainMitesh ChandaranaJitendra SinghSanjiv MehtaBeena SureshHarsh ShethPublished in: Orphanet journal of rare diseases (2024)
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.