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DEPARTMENT OF ADVANCED CENTRE FOR HUMAN GENETICS


FACULTY
- Dr. Mahrukh Hameed Zargar, Assistant Professor & Incharge Head


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<G , W128X  and six more rare mutations for Cystic fibrosis
- 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


 

DR. MAHRUKH HAMEED ZARGAR
Assistant Professor


EDUCATIONAL QUALIFICATIONS
- MSc, University of Kashmir (2002)

- PhD, University of Kashmir (March 2009)

MEMBERSHIPS / FELLOWSHIPS
  • Life Member of Indian Society of Human genetics.

ONGOING RESEARCH PROJECTS

  • Principal investigator of project entitled “K-Ras mutation detection in colorectal cancer patients in Kashmir“Funded by Research grant of SKIMS.

AREAS OF INTEREST
  • Molecular genetics, Cancer Genetics and Cyto genetics

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

Last Updated on Friday, 29 May 2015 14:42
 

Director SKIMS & EOSG

Prof. A. G. Ahangar
MS; MCh (CVTS)
Director SKIMS & Ex-Officio Secretary to Government

Dean Medical Faculty


Prof. Altaf R. Kirmani
Dean, Faculty of Medicine
MESSAGE

Medical Superintendent

Prof. Syed Amin Tabish
Medical Superintendent
MESSAGE

Teaching Activities

MORTALITY MEETING

DATE : 17 NOVEMBER 2017
TIME : 03:00 PM

Department : Neurology, SKIMS

Presenter : Dr. Omer Farooq Mattoo [P.G. 3rd Year Deptt. Of Gen. Medicine]

Clinician In-Charge : Dr. Ravouf Parvez Asimi [Addl. Prof. Neurology]

Moderator : Dr. Abrar Ahad Wani [Addl. Prof. Neurosurgery]

Venue : SKIMS Auditorium



GRAND ROUND

DATE: 18 NOVEMBER 2017
TIME: 09:30 AM

Topic : Role of Radical Prostatectomy in Organ – Confined Prostate (Our Experience at SKIMS)

Department : Urology, SKIMS

Presenter : Dr. Aashiq Hussain [Senior Resident Deptt. Of Urology]

Clinician In-Charge : Dr. Arif Hamid [Addl. Prof. Urology, SKIMS]

Moderators : 1. Prof. Mohd. Maqbool [Head, Radiotherapy SKIMS] 2. Prof. Inam Zaroo [Deptt. Of Plastic Surgery, SKIMS]

Venue: SKIMS Auditorium

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For any Clarification, Please Contact Convenor, Grand Round & Mortality Committee - E-Mail : memsecgrmm@skims.ac.in




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Sher - i - Kashmir Institute of Medical Sciences

Soura, Srinagar.
Jammu & Kashmir - 190011 - India

Phone: +91 - 194 - 2401013
+91 - 194 - 2403470

website : http://www.skims.ac.in
e-mail : contactus@skims.ac.in





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