CMC | Medical Genetics

Medical Genetics

The Department of Medical Genetics is a clinical specialised branch that deals with patients affected with genetic disorders. As the infectious and nutritional diseases are getting controlled, the contribution of genetic disorders as an important cause of mortality and morbidity is becoming more evident.

The genetic disorders include chromosomal anomalies, single gene disorders, multiple congenital anomalies, birth defects and multifactorial disorders.

Progress in the science and advances in the basic sciences in the last decade has increased the knowledge of these genetic disorders and it is evolving every coming day. The department offers diagnostic and management services through its outpatient clinics, ward referrals, molecular laboratory and specialised day care or inpatient management.

The department offers diagnostic services for various single gene disorders by molecular genetics. The scope is vast and includes research in both basic and clinical molecular genetics. Genetic Counseling for these genetic disorders is offered to patients and their families on an outpatient and inpatient consultation services with updated knowledge.

The department expands its diagnostic and research facilities by collaborating with other departments in CMC. The department conducts two courses; post graduate and post doctoral fellowship in Medical Genetics for post MBBS and post MD doctors.

OPD

Date /Timing

Thrust areas

Medical Genetics

Wednesday/Saturdays

8 am– 12 pm

Dysmorphology, mental
retardation, failure to thrive, skeletal disorders, autism, familial
conditions including cancer, reproduction related issues, metabolic and
storage diseases.

Genetic Counseling

Monday/Tuesday

Afternoon2.30 – 4pm

Pretest, post-test
counseling for familial diseases

Perinatal Medicine OPD

Wednesday afternoon 2 pm
– 4.30pm

Saturday 8-11.30am

Preconceptional or
prenatal counseling, recurrent pregnancy loss, previous affected child, bad
obstetric history, advanced maternal age

Neuromuscular OPD

Thursday afternoon 2.30

Muscular dystrophies,
Myotonic dystrophies, Pediatric paralysis, myasthenia, myopathies, movement
disorders

To avail special appointment at any time, you can do so by contacting the Secretary (0416-2283161), OT Block 5th Floor to release appointment. Alpha clinic appointment are available on Fridays with prior permission.

If anyone in your family either you, your child, or close relative has a suspicion of genetic disorder we can help you by providing these services as below.

The Department deals with common genetic disorders such as Down syndrome and very rare ones unheard of.

a. OPD Services including Tele-consultation and Multi-speciality Clinics

b. Diagnostic testing

c. Management by Enzyme replacement therapy for Storage disorders

d. Genetic counselling

e. IP specialized consultation

f. DNA banking

g. Research & Academic activities

a. OPD Services:

OPD services include clinical diagnosis, management and genetic counselling. Pretests, post-tests, preconceptional, prenatal and predictive counselling is done wherever applicable.

• Medical Genetics OPD on Wednesdays & Saturdays mornings – All the new and repeat patients who are still prediagnostic or require above services are first seen in the Medical Genetics OPD. Alpha clinic on Fridays.

• Genetic counselling clinics on Mondays & Tuesdays afternoons – Genetic counselling is a continuous process which may require many sessions and is charted patient-to-patient basis for Pretests, post-tests, preconceptional prenatal and predictive counselling. It discusses prognosis and outcome of the disorder, options available for treatment, deals with the psychosocial aspects of the genetic disorder, implications for other family members, coping with the difficult situations, counselling for prenatal diagnosis, information and consent taking.

• For patients who are not able to travel to CMC, Teleconsultation on Thursdays was started for both new and repeat patients.

b. Multi-speciality Clinics:

1. Perinatal Clinics is running on Wednesdays afternoon and Saturdays morning

2. Genodermatosis Clinic is running on Saturdays

3. Neuromuscular Clinics running on Thursdays afternoons.

c. Diagnostic services:

Currently the department provides the diagnostic services for the following diseases:

Sanger sequencing

AR GENE MUTATION

CONNEXIN 26 GENE ANALYSIS

CYSTIC FIBROSIS COMMON MUTATION

MELAS MT-TL1 SCREENING (A3243G)

FGFR3 HOT SPOT MUTATION

MLC1 HOT SPOT MUTATION

NROB1 (DAX1) MUTATION

MITOCHONDRIAL GENOME DELETION/DUPLICATION ANALYSIS

NEMO GENE ANALYSIS

RETT SYNDROME

TARGETED GENE SEQUENCING( SINGLE GENE DISORDER)

NGS based diagnosis

IEM PANEL

CONGENITAL MYASTHENIC SYNDROME (CMS PANEL)

NEURO FIBROMATOSIS – 1 PANEL

RASOPATHY PANEL

CYSTIC FIBROSIS

MLPA

DMD BY MLPA

DMD CARRIER BY MLPA

MICRODELETION BY MLPA

NF1 MLPA

NF2 MLPA

MS MLPA (AS/PWD/BWS/RSS)

SMN GENE TESTING BY MLPA

Expansion disorders by TP-PCR

MYOTONIC DYSTROPHY TP-PCR

FRIEDREICH ATAXIA TP-PCR

HUNTINGTON S DISEASE

SCREENING OF FRAGILE X SYNDROME

OTHERS

PRENATAL DIAGNOSIS (SINGLE GENE DISORDER)

SPINOCEREBELLAR ATAXIA TYPE 12

DYSTONIA (DYT 1 COMMON DELETION)

SPINOCEREBELLAR ATAXIA PANEL (1,2,3 & 7)

Training

EDUCATION & TRAINING

• CMC 2 year postdoctoral fellowship: Postdoctoral 2 year Fellowship program in Clinical Genetics was introduced in 2009 and currently one per year is enrolled in this program. Eligibility to enter the program is MD in OBG, Paediatrics and General Medicine And other branches of Medicine including MD in basic sciences.

• Postgraduate 2 year Fellowship program in Clinical Genetics is introduced in 2014 and currently one per year is enrolled in this program. Eligibility to enter the program is medical graduation.

• Six months fellowship under DBT for Government Medical colleges doctors

• Three months Genzyme fellowship for Clinicians with MD in Medicine, or Obstetrics and Gynaecology

• Training for Clinicians in Clinical Genetics and Genetic counseling at CMC Vellore and from Aspirational district (Washim) under DBT Government funded project UMMID

• Screening for thalassemia and sickle cell anaemia and congenital anomalies and new born screening for five disorders (Congenital hypothyroidism, Congenital adrenal Hyperplasia, Biotinidase deficiency, G6PD, Galactosemia in Aspriational district of Washim,DBT funded.

• For continued updated education monthly Telemedicine session is held with other renowned Medical Genetics Centres of India with case discussions and expert opinions

D.RESEARCH

The department encourages young scientists to carry out the research activities in various areas of basic and molecular sciences. Department is equipped with modern molecular laboratory with all amenities to carry out scientific experiments.

Ongoing projects are:

Canavan Disease

Alkaptonuria

Recurrent abortions

Metabolic disorders Gaucher, MPS-I, Pompe, Fabry disease, Homocysteine metabolism

• Telemedicine: Teleconferences with SGPGI and Major centres for Medical Genetics for discussing interesting cases – monthly.

• PG Class: classes are being taken for Postgraduate students and DM students from Neonatology, Pediatrics, Reproductive Medicine and Dermatology and Nursing students.

• CMEs- National/International level- At least once a year Continuing Medical Examination (CME), Symposium or Workshops, Quality Circle related to the specialty is conducted with speakers from and outside India.

• JKLMN postings for Undergraduates.

• Guides for outside students doing B.Tech, M.Tech projects completion program: Students from different universities are being guided in their final year project program.

Regular lectures

Teaching session for Fellowship courses in Clinical Genetics starts from August to November and January to March every year

Classes for Nursing B.Sc and M.Sc nursing students

PGs lectures for Postgraduates in Medicine

Elective postings for 1 to 2 weeks of PGs undergoing their training in Neonatology, Pediatrics and Reproductive Medicine Unit

Interactive case discussions once a month in Dysmorphology Clinic/ once a week in Neurometabolic Sessions

Regular 6 monthly CME in Genetics disorders held so far:

Dysmorphology

Genetic Counselling

CME on treatable Genetic disorders

Triplet repeat Neurological disorders

Mitochondrial disorders and Inborn Errors of Metabolism

Genetics of Rheumatic diseases

CME of Skeletal dysplasia

Workshop and CME on Alkaptonuria& Lysosomal storage diseases

Workshop on Next Generation Sequencing

CME of Genetics of Cardiovascular disorders

Case presentation and Lecture Series in Genetics

Contact Information

Address :

The Head
Clinical Genetics Unit

Christian Medical College Vellore

Ida Scudder Road, Vellore – 632004
Tamil Nadu, India

Email us :

medicalgases@cmcvellore.ac.in

Reach us :

004162283161

Working hours :

Mon-Fri: 8 am to 4.30 pm

( Sat : 8 am to 12:30 pm)

Medical Genetics

Professors

Assistant Professors

Assoc.Res.Officer

Contact Information