Advanced Centre For Human Genetics

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DEPARTMENT OF ADVANCED CENTRE FOR HUMAN GENETICS

Departmental Activities & Patient Care Services

The Department of Advanced Centre for Human Genetics has been established in 2012 with an aim to cater to various molecular based diagnostic tests for genetic disorders. The department offers conventional cytogenetic testing for postnatal chromosomal aberrations, Stress Cytogenetics for differential diagnosis of Fanconi anaemia, molecular diagnostics for genetic diseases with monogenic and polygenic disorders.

Other molecular technique based tests that are being provided on routine basis as a patient care service include:

- 508 mutation (3 bp deletion); 3849+ 10 kb A- 8 bp deletion; Intron 2 splice mutation For Congenital adrenal hyperplasia
- SRY gene analysis to rule out Ambiguous genitalia
- SCA1, SCA2 and SCA3 gene analysis for CGG repeats For Spinocerebellar ataxia,
- CAA repeats For Fredrick ataxia,
- FLT3/ITD, FLT3/D835 and NPM1 mutations for Acute Myeloid leukaemia (AML)
- CAG Repeat analysis for Huntington Disease
- SMN1 gene Analysis For spinal Muscular Atrophy

Academic Activities:

The department is actively involved in various academic activities of the institute. Many DM/ MD students are pursuing their research projects in the department. Journal clubs and seminars are being regularly conducted. In addition the resident staff of the department takes regular teaching classes for BSC and MSC nursing through out the year. The faculty and the resident staff is also pursuing the goal of attracting the extramural funded projects for the department.

FACULTY

dil

Dr. Dil Afroze (Ph.D.)

Professor and Head

Department of Advanced Centre for Human Genetics

Sher-i-Kashmir Institute of Medical Sciences (SKIMS),

Soura-190011, Srinagar, J&K, India.

Office: 0194-240103, Extn: 2537

Email: This e-mail address is being protected from spambots. You need JavaScript enabled to view it

https://www.researchgate.net/profile/Dil_Afroze

‪Dil Afroze, PhD - ‪Google Scholar

https://www.ncbi.nlm.nih.gov/pubmed/?term=dil+afroze

Dil Afroze - AD Scientific Index 2025

After obtaining my doctorate from Jamia Millia Islamia, New Delhi, India, Dr. Dil Afroze joined the Department of Immunology and Molecular Medicine at SKIMS as faculty in 2005. With over two decades teaching experience in Immunology and Molecular Medicine, she was elected as Executive committee member (2014-16), then as Vice President of Indian Immunology Society (2016-2020) and also nominated as Governing Body Member of International Union of Immunological Societies (IUIS) representing IIS (2023-2025). After being selected as Professor (on open post) in department of Advanced Center for Human Genetics in 2018, she was certified as Associate Member of Board of Genetic Counselling in 2022.

PROFESSIONAL EXPERIENCE:

2018-Present, Professor and Head, Department of Advanced Centre for Human Genetics,

SKIMS, Srinagar, J&K, India.

2017-2018, Professor, Immunology & Molecular Medicine, SKIMS, Srinagar, J&K, India.

2013-2017, Additional Professor, Immunology & Molecular Medicine, SKIMS, Srinagar, J&K, India.

2010-2013, Associate Professor, Immunology & Molecular Medicine, SKIMS, Srinagar, J&K, India.

2005-2010, Assistant Professor, Immunology & Molecular Medicine, SKIMS, Srinagar, J&K, India.

2002-2005, Resident, Immunology & Molecular Medicine, SKIMS, Srinagar, J&K, India.

HONORS AND AWARDS:

1994, Qualified Graduate aptitude test for engineering (GATE), conducted by the Department of Education, Ministry of Human Resource Development, Government of India.

1994-1996, Awarded Junior Research Fellowship by the University Grants Commission (UGC), New Delhi, India.

1996-1999, Awarded Senior Research Fellowship by the university grants commission (UGC), New Delhi, India.

2013, Visiting Professor, University of Linkoping, Linkoping, Sweden

2016, Visiting Professor, University of Louisville, KY, USA

2019, Awarded International Travel Grant as Oral Speaker for talk entitled “The role of JAK/STAT pathway in the pathogenesis of gastric adenocarcinoma” at membership-society Symposium by Indian Immunology Society on Immune Aberrations in Human Disease during FOCIS-2019 held at Boston from 18-21 June.

2023, Awarded International Travel Grant as Oral Speaker for talk entitled “Role of microRNAs and their impact on JAK/STAT signalling pathway in the pathogenesis of hepatocellular carcinoma: a potential therapeutic axis in HCC at 18th IUIS International Congress of Immunology. held in Cape Town, South Africa, from 27 November - 02 December.

2024, Delivered a talk at 9th BGCI Annual International Conference (July 5-7th) in Bangalore on Genomic Variants in Personalized Healthcare Genetic Counsellors as Facilitators titled “Relevance of Teaching and Training programs for Genetic Counselling”

Conferred as General Body Member (2023-2025), representing IIS (Indian Immunology Society at International Union of Immunological Societies (IUIS)

Invited as Chairperson for Immunocon 2021, 2022, 2023 & 2024 under the aegis of Indian Immunology Society at PGI (Chandigarh), IICB (Kolkata), AIIMS (New Delhi) and IISc (Bengaluru) respectively and for BGCI meeting in Bengaluru in 2024.

Research Projects:

a). ONGOING PROJECTS:

i) Extramural Projects:

Mutational profiling and molecular characterization of spinal muscular atrophy patients from Kashmir region of North India. WISE Kiran project (Mentor for project Funded by DST, New Delhi, GOI.
A combinatorial study and evaluation of role of therapeutic agents/inhibitors on JAK/STAT pathway. (PI for Funded by DST, New Delhi, GOI.
Study of therapeutic intervention of Interleukin-11 and its downstream signalling molecules as anti-tumor targets for treatment of Esophageal Cancer. (Co-PI for Sanctioned project funded by ICMR, GOI)
ii) Intramural Projects
Mutational profiling and molecular characterization of spinal muscular atrophy patients from Kashmir region of North India. (Supervisor for Ph.D. thesis of Dr. Rukhsana Hassan for degree in Human Genetics, SKIMS) Ongoing
b). PROJECTS COMPLETED RECENTLY:
i) Extramural Projects:
Assessment of immunogenetic alterations in patients with Mycobacterium tuberculosis. Funded by ICMR, New Delhi, GOI.
Genetic and epigenetic alterations in patients with pancreatic carcinoma from Kashmir valley. Funded by J&K State DST.
Analysis of the role of genetic polymorphisms in the assessment of response to chemotherapy drugs in patients with gastric adenocarcinoma. Funded by ICMR, New Delhi, GOI.
Establishment of cancer diagnostic center at tertiary care hospital skims” Funded by DBT, New Delhi, GOI
ii) Intramural Projects
- A Study of JAK/STAT Pathway in the Pathogenesis of Gastric Cancer. (Supervisor for Ph.D. thesis of Dr. Iqra Beigh for degree in Immunology & Molecular Medicine, SKIMS)- Successfully completed and degree awarded in April 2020.
- Role of microRNAs and Their Impact on JAK/STAT Signalling Pathway in the Pathogenesis of Hepatocellular Carcinoma. (Supervisor for Ph.D. thesis of Tahira Yusuf for degree in Immunology & Molecular Medicine, SKIMS)- Successfully completed and degree awarded in February 2022.
- Evaluating the Role of Non-Coding RNAs and Their Impact on Telomerase Regulation in the Pathogenesis of Gastric Cancer. (Supervisor for Ph.D. thesis of Dr. Ifra Mushtaq for degree in Biological Sciences, SKIMS)- Successfully completed and degree awarded in December 2023.
- Assessment of the Role of Hypoxia Mediated HIF-1α in Regulating Metabolic Reprogramming in Breast Cancer. (Supervisor for Ph.D. thesis of Dr. Muzammil Farooq for degree in Biological Sciences, SKIMS)- Successfully completed and degree awarded in December 2023.
- Study of immunogenetic alterations in patients with extra-pulmonary tuberculosis (Co-Supervisor for Ph.D. thesis of Bilal Wani for degree in Microbiology, Amity University, New Delhi)- Successfully completed and degree awarded in January 2022.
- Clinical characteristics of patients with spinocerebellar ataxias in Kashmir (Co-Supervisor for M.D. thesis of Dr. Arif for degree in Medicine, Government Medical College, Srinagar)- Successfully completed and degree awarded in January 2022.
- Study the role of signaling pathways in modulating the tumor microenvironment in ovarian cancer. (Supervisor for Ph.D. thesis of Dr. Abida Bhat for degree in Immunology and Molecular Medicine, SKIMS)- Successfully completed and degree awarded in October 2024.
- Study of immunogenetic alterations in patients with extrapulmonary tuberculosis (Co-Supervisor for Ph.D. thesis of Bilal Wani for degree in Microbiology, Amity University, New Delhi)