Lok Sabha Question No. 4390 (UNSTARRED), answered on 2016-08-12
Subject: Rare Genetic Diseases
Ministry: HEALTH AND FAMILY WELFARE
Asked by: RENUKA BUTTA

## GOVERNMENT OF INDIA MINISTRY OF HEALTH AND FAMILY WELFARE DEPARTMENT OF HEALTH RESEARCH

## LOK SABHA UNSTARRED  QUESTION NO. 4390 TO BE ANSWERED ON 12 TH AUGUST, 2016

## RARE GENETIC DISEASE S

## 4390. SHRIMATI BUTTA RENUKA:

Will the Minister of HEALTH AND FAMILY WELFARE be pleased to state:

- (a)  whether  crores  of  people  in  the  country  suffering  from  life  threatening  genetic including progeria;
- (b) if so, the details of such rare diseases prevailing in the country;
- (c) whether Indian Society fo r Clinical Research (ISCR) has conducted any detailed study in thi regard, if so, the details and outcome thereof;
- (d) whether the Government has prepared any action plan to combat and cover such rare dis under the National Health Mission and set up a panel to frame a policy, in this regard; and
- (e) if so, the details thereof and if not, the reasons therefor?

## ANSWER THE MINISTER OF STATE IN THE MINISTRY OF HEALTH AND FAMILY WELFARE ( SMT. ANUPRIYA PATEL )

- (a) & (b) : Prevalence rate in India for rare genetic diseases is not clearly available. literatures give an incidence of 1:428 million population for Progeria and 1:40000 for Gaucher's and Pompe disease. The Department of Health Research (DHR) is supporting research on genetic diseases. Research in these diseases is limited due to lesser availability of the number Research  is  widely  initiated  in  other  diseases  like  Lysosomal  Storage  diseases,  Sick anaemia, Thalassemia, Haemophilia, etc.
- (c ) : The  Indian  Society  for  Clinical  Research  has  not  conducted  any  research/study  for threatening genetic diseases in the country.
- (d)& (e) : The Government of India is implementing a comprehensive National Health Mission Programme to strengthen health delivery system, which also covers important life threat diseases including rare and genetic diseases under it.

Source: Indian Society for Clinical Research, Mumbai

Contd……..

Health being a State subject, the Government of India provides financial support States to strengthen their health care delivery system, including screening, as well as tr other important diseases including life threatening rare diseases (thalassemia, haemophilia, sickle cell anemia and other genetically inherited disorders/diseases).

The Government of India also provides technical support to state governments under National Health Mission Programme to deal with such life threatening diseases and genetically inherited disorders.

The Department of Health Research is also supporting research on such disorders/diseases in its on - going research projects. A National Task Force study on Lysosomal Storage Disorders (LSD's) which is a group of rare genetic disorders, at 10 centres in India is also  under  way.  This  study  will  enable  setting  up  of  clinical,  biochemical  and  mol diagnostics for these conditions.  Research is initiated in other genetic disea ses like sickle cell anemia, thalassemia, haemophilia, etc.  Prenatal counselling and setting up of early int centres  to  prevent  the  transmission/transfer  of  such  diseases  is  also  done  under  the Health Mission.

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