Connecting Communities, Sharing Knowledge
The centre’s mission extends beyond the laboratory and clinic. We are committed to fostering a vibrant ecosystem for rare disease research and care by actively engaging with scientists, clinicians, patient communities, and the public. Through conferences, workshops, public outreach activities, and digital initiatives, we aim to share knowledge, build collaborations, and highlight the importance of rare disease research in India.
Scientific Events
Rare Disease Research Summit | February 28, 2023 | Dr. Reddy’s Institute of Life Sciences, Hyderabad
An interdisciplinary gathering that fostered innovation in rare disease research through invited talks and poster sessions, encouraging dialogue across clinical and basic science disciplines.
Manipal Genetics Update VII | January 18–20, 2024 | Manipal
An international conference with over 200 participants, focusing on cellular and animal models for rare genetic disorders, and featuring national and international experts in medical genetics research.
11th Annual Conference of the Society for Mitochondrial Research and Medicine (SMRM) | October 9–11, 2025 | Manipal
Co-hosted by the Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, this conference on “Mitochondria in Health, Disease and Ageing” brought together approximately 160 participants and 32 invited speakers, including 10 international experts, representing diverse areas of mitochondrial research.
Raising Awareness: Community and Public Engagement
Public engagement is essential to improve understanding of genetic disorders, address social stigma, and build a supportive community for patients and their families. The centre actively designs and participates in outreach initiatives that bring the science of medical genetics directly to the communities it serves.
Open Day at the Department of Medical Genetics | May 25, 2024 | Manipal
An open invitation for the public to explore laboratory facilities, interact with researchers and clinicians, and learn about ongoing work in rare disease diagnosis and research.
Rare Disease Day 2025 | February 27, 2025 | Manipal
A public street play designed to raise awareness about recognizing the symptoms of rare diseases, reaching out to an expert, misconceptions around consanguinity, the importance of genetic counselling, and the role of family support systems for affected individuals.
Sharing Knowledge Globally: Webinars and Digital Resources
The centre leverages digital platforms to extend its reach to a global audience of researchers, students, healthcare professionals, and families. This section archives recordings, interviews, and educational resources from online engagements.
Webinar: Insights from Dr. Anju Shukla on Rare Genetic Disorders | August 13, 2024
A webinar featuring Dr. Anju Shukla, focusing on the diagnosis and management of rare genetic disorders and the critical role of genetic counselling.
Watch here: Understanding Rare Genetic Disorders | Dr. Anju Shukla l Kasturba Hospital, Manipal
Namma TV Interview: Dr. Vivekananda Bhat on Rare Diseases | September 13, 2025
A televised discussion on rare disease identification, prevalence, and the role of prenatal testing.
Watch here: https://www.youtube.com/watch?v=cGpatp0q3tk
“Genome Diaries” — IIT Madras Shaastra Magazine | Vol 04, Issue 08 | September 2025
An article featuring Dr. Anju Shukla’s perspectives on how research in India is transforming rare disease diagnosis and care.
Read here: Genome Diaries | Indian Institute of Technology Madras - IITM Shaastra
10 Women, 10 Questions – Dr. Aarti Sevilimedu | IndiaBioscience | November 15, 2025
An interview highlighting Dr. Aarti Sevilimedu’s career journey and contributions to rare disease research.
Read here: https://indiabioscience.org/columns/education/10-women-10-questions-aarti-sevilimedu
Research on the Global Stage: Presentations and Posters
This section serves as an archive of scientific posters and oral presentations delivered by centre members at national and international conferences, showcasing ongoing research and fostering global scientific exchange.
By PIs & Collaborators:
Sl. No |
Presenter Name |
Title |
Seminar/ |
Name of the Event |
Place |
National/ |
Conference Date |
1 |
Dr. Aarti Sevilimedu
|
Cellular Effects of Arylsulfatase K Knockout and Overexpression |
Conference
|
International Conference on Biological Communications in Disease and Development - SBC(I) |
Hyderabad |
International |
17-19 Dec 2025 |
2 |
Dr. Anju Shukla |
Navigating VUS, pointers for Clinicians |
Workshop |
10th Annual Conference of the Society for Indian Academy of Medical Genetics IAMG 2025 |
Pune |
National |
4–7 Dec 2025 |
3 |
Dr. Aarti Sevilimedu |
Modelling Rare genetic disorders in Zebrafish: Disease mechanisms and therapy development |
Conference
|
10th Annual Conference of the Society for Indian Academy of Medical Genetics IAMG 2025 |
Pune |
National |
4–7 Dec 2025 |
4 |
Dr. Vivekananda Bhat |
Clinical and genomic profile of blistering and keratinization genodermatoses in an Indian cohort |
Conference |
10th Annual Conference of the Society for Indian Academy of Medical Genetics IAMG 2025 |
Pune |
National |
4–7 Dec 2025 |
5 |
Dr. Aarti Sevilimedu
|
Unveiling a mitochondrial link to skeletal disorders: Insights from PISD knockout cellular and zebrafish models |
Conference |
11th Annual Conference of the SMRM on Mitochondria in Health, Disease, and Ageing |
Manipal |
National |
9–11 Oct 2025 |
6 |
Dr. Anju Shukla |
Advancing Genetic Counseling in India: Education, Accreditation and the Road Ahead |
Conference |
National Genetic Counseling Symposium 2025 |
Hyderabad |
National |
7–8 Mar 2025 |
7 |
Dr. Anju Shukla |
ACMG criteria for sequence variant classification: Overview of the framework and its refinement |
Workshop |
PGIMER Workshop ‘“Genomic Variant Interpretation in Clinical Practice” |
Chandigarh |
National |
1–2 Mar 2025 |
8 |
Dr. Anju Shukla |
Clinical and genomic elucidation of pediatric-onset renal disorders in an Indian cohort |
Conference |
20th Congress of the International Pediatric Nephrology Association (IPNA 2025) |
Cape Town, South Africa |
International |
19–23 Feb 2025 |
9 |
Dr. Anju Shukla |
Genetic landscape and treatment avenues for rare genetic disorders |
Conference |
49th Annual Meeting of Indian Society of Human Genetics (ISHG) & International Conclave on Neurogenetics |
Bengaluru |
National |
20–22 Jan 2025 |
10 |
Dr. Anju Shukla |
Genetic landscape and treatment avenues for rare genetic disorders |
Conference |
9th Annual Conference of the Society for Indian Academy of Medical Genetics – IAMG-2024 |
Ahmedabad |
National |
5 Dec 2024 |
11 |
Dr. Anju Shukla |
Updates in management of common genetic disorders |
CME |
Karavali Pedicon 2024 and Dr Meera Baliga Oration |
Udupi |
National |
1 Dec 2024 |
12 |
Dr. Anju Shukla |
Centre for Rare Disease Diagnosis, Research and Training |
Conference |
India Alliance Annual Conclave |
Hyderabad |
National |
28–30 Aug 2024 |
13 |
Dr. Anju Shukla |
Genetic testing in pediatric neurology — indications and clinical applications |
Lecture |
KARNEUROPEDICON 2024 |
Mangalore |
National |
25 Aug 2024
|
14 |
Dr. Anju Shukla |
Genomics of mitochondrial disorders |
Workshop |
One Day Symposium & Workshop on Mitochondrial Genomics: From Mutations to Clinical Phenotypes |
Manipal |
National |
27 Jul 2024 |
15 |
Dr. Anju Shukla |
Laboratory and Clinical Aspects of Brain Disorders |
Workshop |
DHR Workshop — Clinical Approach to Genetic Disorders |
Mumbai |
National |
21 Jun 2024 |
16 |
Dr. Vivekananda Bhat |
Biallelic splicing variant in F3 is associated with bleeding disorder |
Conference |
European Society of Human Genetics Conference (ESHG 2024) |
Berlin, Germany |
International |
1–4 Jun 2024 |
17 |
Dr. Radhakrishnan P |
Biallelic variants in centrosome linker component LRRC45 cause a novel ciliopathy |
Conference |
European Society of Human Genetics Conference (ESHG 2024) |
Berlin, Germany |
International |
1–4 Jun 2024 |
18 |
Dr. Anju Shukla |
Rare genetic disorders with genome instability: Manipal experience |
Symposium |
EMBO Global Lecture Series & International Symposium on Genome Instability and Human Health |
Manipal |
International |
24 Feb 2024 |
By Team:
Sl. No |
Presenter Name |
Title |
Seminar/ |
Name of the Event |
Place |
National/ |
Conference Date |
1 |
Krishnaveni Y
|
Cellular Effects of Arylsulfatase K Knockout and Overexpression |
Conference
|
International Conference on Biological Communications in Disease and Development - SBC(I) |
Hyderabad |
International |
17-19 Dec 2025 |
2 |
Dr. Sija Pradeep |
Challenges of setting allele frequency thresholds in gnomAD v4.1.0 for prioritizing variants for rare monogenic diseases |
Conference |
10th Annual Conference of the Society for Indian Academy of Medical Genetics IAMG 2025 |
Pune |
National |
4–7 Dec 2025 |
3 |
Selinda Mascarenhas |
Application of transcriptomics for rare genetic disease diagnosis: Preliminary findings from an Indian cohort |
Conference |
10th Annual Conference of the Society for Indian Academy of Medical Genetics IAMG 2025 |
Pune |
National |
4–7 Dec 2025 |
4 |
Dr. Renu Anna Johnson |
Spectrum of secondary findings in exome sequencing data of 3549 Indian individuals |
Conference |
10th Annual Conference of the Society for Indian Academy of Medical Genetics IAMG 2025 |
Pune |
National |
4–7 Dec 2025 |
5 |
Tanvi Kottat |
c.1446+3_1446+4del in PPP1R21 leads to aberrant splicing and causes neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities |
Conference |
10th Annual Conference of the Society for Indian Academy of Medical Genetics IAMG 2025 |
Pune |
National |
4–7 Dec 2025 |
6 |
Shobika Kulandasamy |
Preliminary findings from targeted genetic screening of three spliceosome-related snRNA genes in an Indian cohort of undiagnosed neurodevelopmental phenotypes |
Conference |
10th Annual Conference of the Society for Indian Academy of Medical Genetics IAMG 2025 |
Pune |
National |
4–7 Dec 2025 |
7 |
Archana Meenakshi |
Counseling challenges in a family with atypical clinical presentation of PORCN-related disorder |
Conference |
10th Annual Conference of the Society for Indian Academy of Medical Genetics IAMG 2025 |
Pune |
National |
4–7 Dec 2025 |
8 |
Nayanika Bhattacharya |
One approach does not fit all: Tailoring genetic counseling for dual diagnoses – addressing complexities and information overload |
Conference |
10th Annual Conference of the Society for Indian Academy of Medical Genetics IAMG 2025 |
Pune |
National |
4–7 Dec 2025 |
9 |
Sana Fathima K S |
Novel biallelic variant, c.239C>A p.(Ser80Ter) in TRIP4 causing spinal muscular atrophy with congenital bone fracture |
Conference |
10th Annual Conference of the Society for Indian Academy of Medical Genetics IAMG 2025 |
Pune |
National |
4–7 Dec 2025 |
10 |
Kushi Kunder |
Phenotypic variability due to a biallelic variant c.3172dup in TSPOAP1 |
Conference |
11th Annual Conference of the SMRM on Mitochondria in Health, Disease, and Ageing |
Manipal |
National |
9–11 Oct 2025 |
11 |
Vaishnavi Badiger |
Biallelic variants in DLST are associated with a progressive neurometabolic disorder |
Conference |
11th Annual Conference of the SMRM on Mitochondria in Health, Disease, and Ageing |
Manipal |
National |
9–11 Oct 2025 |
12 |
Dr. Aakanksha Anand |
Biallelic loss-of-function variant in ATP5ME is associated with severe and early onset oxidative phosphorylation deficiency |
Conference |
11th Annual Conference of the SMRM on Mitochondria in Health, Disease, and Ageing |
Manipal |
National |
9–11 Oct 2025 |
13 |
Shobika Kulandasamy |
Isolated oxidative phosphorylation deficiencies: A case series highlighting genotypic diversity in 10 Indian families |
Conference |
11th Annual Conference of the SMRM on Mitochondria in Health, Disease, and Ageing |
Manipal |
National |
9–11 Oct 2025 |
14 |
Tanvi Kottat |
Expanding the genetic landscape of neurodegeneration with brain iron accumulation: A case series of seven Indian families |
Conference |
11th Annual Conference of the SMRM on Mitochondria in Health, Disease, and Ageing |
Manipal |
National |
9–11 Oct 2025 |
15 |
Gargee Das |
A novel homozygous intronic variant c.709-3C>A in TAMM41 causes combined oxidative phosphorylation deficiency 56 |
Conference |
11th Annual Conference of the SMRM on Mitochondria in Health, Disease, and Ageing |
Manipal |
National |
9–11 Oct 2025 |
16 |
Mahanthi Vasu |
Loss of Slc25a10 causes metabolic, mitochondrial, and neurobehavioral deficits in zebrafish |
Conference |
11th Annual Conference of the SMRM on Mitochondria in Health, Disease, and Ageing |
Manipal |
National |
9–11 Oct 2025 |
17 |
Divya Jamdar |
A novel homozygous variant c.352T>C in DMXL2 disrupts lysosomal function and causes developmental and epileptic encephalopathy 81 |
Conference |
11th Annual Conference of the SMRM on Mitochondria in Health, Disease, and Ageing |
Manipal |
National |
9–11 Oct 2025 |
18 |
N Sushma Sri |
Mitochondrial dysfunction due to PISD loss leads to skeletal phenotypes in spondyloepimetaphyseal dysplasia |
Conference |
11th Annual Conference of the SMRM on Mitochondria in Health, Disease, and Ageing |
Manipal |
National |
9–11 Oct 2025 |
19 |
N Sushma Sri |
Investigating the role of phosphatidylserine decarboxylase during skeletal development using zebrafish as a model organism |
Conference |
11th Annual Conference of the SMRM on Mitochondria in Health, Disease, and Ageing |
Manipal |
National |
9–11 Oct 2025 |
20 |
Sania Naaz |
Navigating dual cancer risks: Genetic counselling in a family with mismatch repair cancer syndrome and Lynch syndrome |
Conference |
National Genetic Counseling Symposium 2025 |
Hyderabad |
National |
7–8 Mar 2025 |
21 |
Prerak Amit Shah |
Genetic counselling in families with multiple genetic diagnoses: Approach and challenges |
Conference |
National Genetic Counseling Symposium 2025 |
Hyderabad |
National |
7–8 Mar 2025 |
22 |
Dr. Renu Anna Johnson |
Clinical and genomic spectrum of hereditary spastic paraplegia: A case series. |
Conference |
53rd Annual Conference of Indian Association of Physical Medicine and Rehabilitation (IAPMRCON 2025) |
Bengaluru |
National |
29 Jan–1 Feb 2025 |
23 |
Spoorthi |
Novel biallelic variants in AHR causing foveal hypoplasia 3 |
Conference |
49th Annual Meeting of Indian Society of Human Genetics (ISHG) & International Conclave on Neurogenetics |
Bengaluru |
National |
20–22 Jan 2025 |
24 |
N Sushma Sri |
Mitochondrial dysfunction due to PISD loss leads to skeletal phenotypes in spondyloepimetaphyseal dysplasia |
Conference
|
Mitochondrial Biology in Health and Disease at NTUH International Convention Centre |
Taipei, Taiwan |
International |
13-16 Jan 2025 |
25 |
Vaishnavi Badiger |
Targeted transcript analysis to establish pathogenicity of variants of uncertain significance in genes causing monogenic disorders |
Conference |
9th Annual Conference of the Society for Indian Academy of Medical Genetics – IAMG 2024 |
Ahmedabad |
National |
5–8 Dec 2024 |
26 |
Adrija |
A novel biallelic variant c.76T>C in CHMP1A causing pontocerebellar hypoplasia type 8 |
Conference |
Society for Indian Academy of Medical Genetics |
Ahmedabad |
National |
5–8 Dec 2024 |
27 |
Aloysius D’Souza |
Biallelic intronic variant c.1932+4A>C in EXOC2 is associated with neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia |
Conference |
Society for Indian Academy of Medical Genetics |
Ahmedabad |
National |
5–8 Dec 2024 |
28 |
Dr. Priyanka Patra |
Clinical & genomic spectrum of inherited liver disease: Manipal experience |
Conference |
ISIEM (Indian Society for Inborn Errors of Metabolism) 2024 |
Jaipur |
National |
20–22 Sep 2024 |
29 |
Dr. Robert Patrick Selvam |
Hyaline fibromatosis syndrome with a novel frameshift insertion in the ANTXR2 gene |
Conference |
Manipal Quest 1.0 |
Manipal |
National |
6 Sep 2024 |
30 |
Dr. Priyanka Patra |
Clinical and genomic profile of genodermatoses in an Indian cohort |
Conference |
European Society of Human Genetics Conference 2024 |
Berlin, Germany |
International |
1–4 Jun 2024 |
31 |
Dr. Mayuri Yeole |
Biallelic variant, c.1139T>G, in DAP3 is associated with encephalopathy, liver failure, lactic acidosis, and early infantile death |
Conference |
European Human Genetics Conference 2024 |
Berlin, Germany |
International |
1–4 Jun 2024 |
32 |
Dr. Mayuri Yeole |
A novel hemizygous stopgain variant in GPC4 causes distinct dysmorphic Keipert syndrome |
Conference |
European Human Genetics Conference 2024 |
Berlin, Germany |
International |
1–4 Jun 2024 |
33 |
Dr. Mayuri Yeole |
Report of novel biallelic variants in BRCA1 causing chromosomal instability syndrome |
Conference |
Manipal Genetics Update VII |
Manipal |
National |
18–20 Jan 2024 |
34 |
Krishnaveni Y |
Cellular Effects Of Arylsulfatase K Knockout And Overexpression |
Conference
|
MANIPAL GENETICS UPDATE VII Cellular and Animal Models for Rare Genetic Diseases |
Manipal |
National |
18-20 Jan 2024 |
35 |
Christopher Shamir |
Deciphering the Mechanistic Role of AIMP2 in Hypomyelinating Leukodystrophy |
Conference |
MANIPAL GENETICS UPDATE VII Cellular and Animal Models for Rare Genetic Diseases |
Manipal |
National |
18-20 Jan 2024 |
36 |
Adrija |
Long-read sequencing identifies a copy number variation in an unsolved case with DARS2-associated mitochondrial leukoencephalopathy |
Conference |
MANIPAL GENETICS UPDATE VII Cellular and Animal Models for Rare Genetic Diseases
|
Manipal |
National |
1 Jan 2024 |
37 |
Aloysius D’Souza |
Expanding the MRPS2-related genotypic and phenotypic spectrum |
Conference |
MANIPAL GENETICS UPDATE VII Cellular and Animal Models for Rare Genetic Diseases
|
Manipal |
National |
1 Jan 2024 |
38 |
N Sushma Sri |
Investigating the role of phosphatidylserine decarboxylase during skeletal development using zebrafish as a model organism |
Conference |
MANIPAL GENETICS UPDATE VII Cellular and Animal Models for Rare Genetic Diseases
|
Manipal |
National |
1 Jan 2024 |
39 |
Dr. Anikha Bellad |
A novel LC-MS/MS-based multiplexed targeted assay for first line screening of thalassemia and hemoglobinopathy: Application in newborn screening |
Conference |
Association of Medical Biochemists of India 2023 |
Navi Mumbai |
National |
13-16 Dec 2023 |
40 |
Dr. Anikha Bellad |
Reliable and accurate diagnosis of hemoglobinopathies and thalassemia using LC-MS/MS-based multiplexed targeted assay |
Conference |
Indian Academy of Medical Genetics 2023 |
New Delhi |
National |
30 Nov-2 Dec 2023 |
41 |
Dr. Jisha Chandran |
A multiplexed mass spectrometry-based assay to quantify amino acids and biogenic amines for screening inborn errors of metabolism |
Conference |
Indian Academy of Medical Genetics 2023 |
New Delhi |
National |
30 Nov-2 Dec 2023
|
42 |
Radhika Kawathe |
Omics Approach to Understand and to Develop a Diagnostic Method for Leigh Syndrome |
Conference |
Indian Academy of Medical Genetics 2023 |
New Delhi |
National |
30 Nov-2 Dec 2023
|
43 |
Dr. Anikha Bellad |
Assays leveraging mass spectrometry- Future in prenatal testing |
Conference |
Association of Medical Biochemists of India Karnataka Chapter 2023 |
Dharwad |
State |
19 May 2023 |