Lok Sabha Question No. 1625 (UNSTARRED), answered on 2022-12-16
Subject: Genetic Disorder
Ministry: HEALTH AND FAMILY WELFARE
Asked by: Parvesh Sahib Singh, Vishnu Dutt Sharma

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

## LOK SABHA UNSTARRED QUESTION NO. 1625 TO BE ANSWERED ON 16 TH  DECEMBER, 2022

## GENETIC DISORDER

## 1625. SHRI PARVESH SAHIB SINGH VERMA: SHRI VISHNU DATT SHARMA:

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

- (a) whether the Government is conducting/ proposes to conduct any research on the treatment for rare Genetic Disorders in India and if so, the details thereof;
- (b) the steps taken/proposed to be taken regarding cure for rare genetic disorders in India;
- (c) whether the Government is making efforts to promote domestic manufacturing of medicines, for rare genetic disorders, considering their scarce availability and prohibitive cost;
- (d) if so, the details of efforts made and outcomes achieved in this regard; and
- (e) if not, the reasons therefor?

## ANSWER THE MINISTER OF STATE IN THE MINISTRY OF HEALTH AND FAMILY WELFARE (DR. BHARATI PRAVIN PAWAR)

(a) & (b): The  Indian  Council  of  Medical  Research  (ICMR)    task  force  in  rare  diseases    includes twenty-four  (24)  studies  addressing  various  issues  in  Primordial  Dwarfism  (Pd),  Granulomatosis  with Polyangiitis, schwannoma associated with Neurofibromatosis type 2, arterial calcifications in ADCC/CALJA (a rare  disease  marked  by  NT5E  gene  mutations),  FibrodysplasiaOssificansProgressiva (Fop), Polymicrogyria Syndromes, Amyloidosis, Seronegative NeuromyelitisOptica, Bardet-Biedl Syndrome, Retinitis Pigmentosa Type 12, Arthrogryposis Multiplex Congenita (AMC),  Primary Immunodeficiency disorders and Inborn Errors of Immunity.

Ministry of Health and family Welfare has framed National Policy for Rare Diseases (NPRD), 2021 for facilitating and providing financial assistance to the patients suffering from rare diseases. The policy has been amended and now  financial assistance of upto Rs. 50 Lakh is permissible per patient.

Ten  (10)  Centres  of  Excellence  (CoEs)  have  been  identified,  which  are  premier  Government  tertiary hospitals  with  facilities  for  diagnosis,  prevention  and  treatment  of  rare  diseases.  In  order  to  receive financial assistance for treatment of rare disease and avail the benefits as per the policy, the patient of the nearby area can approach the nearest Centre of Excellence.

As informed,  the  Department  of  Biotechnology  (DBT)  has  supported  Research  &  Development  (R&D) projects  for  developing  treatment  for  rare  genetic  disorders  in  India.  These  projects  include  proof-of concept  for  treatment  of  hemoglobinopathies  using  genome  editing  tools,  and  clinical  trial  of  lentiviral vector-based gene therapy for Hemophilia. Besides, research on modelling of rare genetic diseases such as inborn  errors  in  metabolism  using  organoids  and  stem  cells,  used  to  test  therapies  and  new  delivery methods is also conducted by the Institute for Stem Cell Science and Regenerative Medicine, Bengaluru, an autonomous institution of the Department of Biotechnology. In addition, the public sector undertaking of the DBT, the Biotechnology Industry Research Assistance Council (BIRAC) has also supported projects for  development  of  therapeutics  for  rare  genetic  diseases  viz.  Niemann-Pick  Type  C  Disorder,  and Duchenne Muscular Dystrophy.

(c) to (e): In order to make  the country Atmanirbhar in pharmaceuticals, the Department of Pharmaceuticals implements the Production Linked Incentive (PLI) Scheme for Pharmaceuticals with total financial outlay of Rs. 15,000 crore and tenure from FY 2020- 2021 to FY 2028-29. The scheme covers pharmaceutical goods under three different categories. One of the product segment under the Category-1 is Orphan drugs, including those used for treatment of rare diseases.

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