Page 26 - Report
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who are at risk of developing various The Department of Medical Genetics is
complications like hypertension, preterm labor actively involved in the diagnosis and
etc. Since the understanding of their it management of patients with various genetic
iopathogens is increased, the occurrence of such disorders for the last 3 decades. Medical genetics
complications and their prevention is now is taking centre stage in the patient care in the era
possible. A clear paradigm shift from treatment of medical genetics. Next generation sequencing
to prevention is evident. The department has has been a paradigm shift in the diagnostics of
been a forerunner in this field. The department genetic disorders, cancers and personalized
has been diagnosing the disease before the child is medicine by way of pharmacogenetics and risk
estimation for multifactorial disorders. The
department of medical genetics has geared up to
the changing times and has established
interpretation of NGS data and provide
diagnostics and research based on exome
sequencing and whole genome sequencing.
Currently, the department has state of art
diagnostic services for genetic disorders. Multiple
born and treating it before birth. All pregnant steps are being taken to create appropriate NGS
women are screened for risk of thalassemia and based diagnostic services for carrier screening,
risk for chromosomal abnormalities which is a prenatal screening, new born screening and
step towards “Thalassemia free India”. Healthy appropriate counseling and training medical and
mother and healthy fetus make a healthy child laboratory-based personnel. On research front,
and a healthy nation. In addition, the department faculty has been awarded at extramural grants
aims to generate trained manpower in this with Rs.100 Lac worth funds.
rapidly evolving field. The department has Rare Disease Day celebrated-Genetic disorders
unique distinction of giving blood transfusion to account for 80% of the rare disorders. SGPGIMS
the unborn fetus including twin pregnancy, is a pioneer in the field of Medical Genetics
simultaneously to both the fetuses thereby department for the care of patients with rare
ensuring their survival. The department has disorders. The era of genomic medicine ushered
pioneered in doing radio frequency ablation for in improved diagnostics and treatments for these
cardiac twin and putting shunt in fetus for neglected disorders. Novel strategies of
various fetal conditions. treatments based on genetic pathophysiology
COVID related highlights: The department have shown dramatic results in disorders like
continued to deliver babies even during the entire Spinal Muscular Atrophy, Lysosomal disorders
pandemic, including the lockdown phase. The like Gaucher disease, Pompe disease, etc. and are
department has participated in all the common available for the patients in SGPGIMS. To create
activities such as e-OPD. Faculty, residents, further awareness about these disease entrities,
nursing staff and house keeping staff have been Rares disease day was organized. patients and
posted for COVID hospital duties in the ICU. their families from all over Uttar Pradesh
participated in the event. Patients and parents
Vision for the next 5years: The department shared their struggles for diagnosis and
aims to start DM course in “Maternal and Fetal treatment. The program was attended by
Medicine” and expand the horizon of fetal pediatricians in and around Lucknow, providing
therapy. them opportunity to learn about these rare
diseases.
24
complications like hypertension, preterm labor actively involved in the diagnosis and
etc. Since the understanding of their it management of patients with various genetic
iopathogens is increased, the occurrence of such disorders for the last 3 decades. Medical genetics
complications and their prevention is now is taking centre stage in the patient care in the era
possible. A clear paradigm shift from treatment of medical genetics. Next generation sequencing
to prevention is evident. The department has has been a paradigm shift in the diagnostics of
been a forerunner in this field. The department genetic disorders, cancers and personalized
has been diagnosing the disease before the child is medicine by way of pharmacogenetics and risk
estimation for multifactorial disorders. The
department of medical genetics has geared up to
the changing times and has established
interpretation of NGS data and provide
diagnostics and research based on exome
sequencing and whole genome sequencing.
Currently, the department has state of art
diagnostic services for genetic disorders. Multiple
born and treating it before birth. All pregnant steps are being taken to create appropriate NGS
women are screened for risk of thalassemia and based diagnostic services for carrier screening,
risk for chromosomal abnormalities which is a prenatal screening, new born screening and
step towards “Thalassemia free India”. Healthy appropriate counseling and training medical and
mother and healthy fetus make a healthy child laboratory-based personnel. On research front,
and a healthy nation. In addition, the department faculty has been awarded at extramural grants
aims to generate trained manpower in this with Rs.100 Lac worth funds.
rapidly evolving field. The department has Rare Disease Day celebrated-Genetic disorders
unique distinction of giving blood transfusion to account for 80% of the rare disorders. SGPGIMS
the unborn fetus including twin pregnancy, is a pioneer in the field of Medical Genetics
simultaneously to both the fetuses thereby department for the care of patients with rare
ensuring their survival. The department has disorders. The era of genomic medicine ushered
pioneered in doing radio frequency ablation for in improved diagnostics and treatments for these
cardiac twin and putting shunt in fetus for neglected disorders. Novel strategies of
various fetal conditions. treatments based on genetic pathophysiology
COVID related highlights: The department have shown dramatic results in disorders like
continued to deliver babies even during the entire Spinal Muscular Atrophy, Lysosomal disorders
pandemic, including the lockdown phase. The like Gaucher disease, Pompe disease, etc. and are
department has participated in all the common available for the patients in SGPGIMS. To create
activities such as e-OPD. Faculty, residents, further awareness about these disease entrities,
nursing staff and house keeping staff have been Rares disease day was organized. patients and
posted for COVID hospital duties in the ICU. their families from all over Uttar Pradesh
participated in the event. Patients and parents
Vision for the next 5years: The department shared their struggles for diagnosis and
aims to start DM course in “Maternal and Fetal treatment. The program was attended by
Medicine” and expand the horizon of fetal pediatricians in and around Lucknow, providing
therapy. them opportunity to learn about these rare
diseases.
24
