Lok Sabha Question No. 2593 (UNSTARRED), answered on 2017-03-17
Subject: Rare Diseases
Ministry: HEALTH AND FAMILY WELFARE
Asked by: PRAHLAD SINGH PATEL

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

LOK SABHA UNSTARRED QUESTION NO. 2593 TO BE ANSWERED ON 17 TH MARCH, 2017

## RARE DISEASES

## 2593. SHRI PRAHLAD SINGH PATEL :

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

- (a)  whether  the  Government  proposes  to  constitute  a  special  research  team  to  combat diseases in the country;
- (b) if so, the details thereof and if not, the reasons therefor;
- (c) the details of rare disease s discovered in the country and the number of people affected wit such diseases, State/UT -wise and the progress achieved by the Government on treatment and medication of rare diseases in the country;
- (d) whether the Government has evaluated the impact o n the life of people affected by such diseases in the country and the outcome thereto; and
- (e) the other steps taken/being taken by the Government in this regard?

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

- (a) & (b) : An expert group (Sub - committee) constituted by the Ministry of Health & Family Welfare,  Government  of  India  in  March  2016  suggested  that  amongst  the  estimated  700 different  rare  diseases  in  the  world,  the  Lysosomal  Storage  Diseases  ( LSDs)  and  the  Inborn Errors of Metabolism (IEMs) are of immediate relevance in India.

Department  of  Biotechnology  (DBT),  Ministry  of  Science  &  Technology,  has  a  Task Force  on  Human  Genetics  and  Genome  Analysis  under  Medical  Biotechnology  programme, which targets towards preventing human diseases, early diagnosis and management of medic problems. The Task Force supports various projects on rare diseases like  Sickle Cell An Haemophilia and Thalassemia. DBT has instituted a joint collaboration with J apan to bear on clinical  studies  of  brain  and  blood  disorders  under  the  venture  titled  'Accelerating  the application of Stem Cell technology in Human disease'.

Contd……

(c) : Rare  diseases  include  inherited  Cancers,  Autoimmune  Disorders  and  Congen ital malformations  viz.  Hemangiomas,  Hirchsprung  disease,  Gaucher  disease,  cystic  fibros muscular  dystrophies  and  Lysosomal  Storage  Disorders.  Some  other  rare  diseases  incl Alzheimers'  disease,  Hodgkin's  disease,  Leukemia,  multiple  sclerosis,  etc.  As informed  by Public Health Division, Ministry of Health & Family Welfare, currently, there is no reg rare  diseases  in  India  and  therefore  exact  number  of  patients  and  their  State/UT -wise distribution are not known. The initial assessment for most of the rare diseases can be done at medical college hospitals and the suspected cases can be referred to super - specialty hospitals that have  a  functional  medical  genetics  laboratory.  As  per  report  by  the  expert  group -committee) constituted by the Mini stry of Health & Family Welfare, Government of India, rare diseases are, in most cases, serious, chronic, debilitating and life threatening, often re and specialised treatments. In addition, they often result in some form of handicap, so extremely  severe.  At  least  80%  of  rare  diseases  have  an  identified  genetic  origin  and disproportionately impact children.

(d)& (e) : Health  being  a  State  subject,  it  is  the  prerogative  of  the  State  Governmen provide comprehensive health car e to the people including those suffering from rare disease The Central Government supports efforts of State Governments, financially and technicall their  endeavour  to  provide  health  care  through  their  Programme  Implementation  Plan  (P under the N ational Health Mission.

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