Genetic Counselling Clinic
March 27, 2026 2026-03-30 12:43Genetic Counselling Clinic
Dr. Meenakshi Bhat
Clinical work:
A total of 1506 families with genetic disorders were evaluated, tested and counselled at CHG and hospitals served by CHG in this calendar year. The families attending government hospitals and those holding below poverty line (BPL) cards have had all consultations and genetic tests done without charge at CHG. Besides regular diagnosis, select clinical cases with rare disorders have been included in joint clinical research projects in conjunction with colleagues in India and abroad. These include: Gaucher disease: modifier genes in L444P homozygotes: with Prof. Timothy Cox, University of Cambridge, UK Autosomal recessive cutis laxa (15 families): with Prof. Uwe Kornak, Max Planck University, Berlin Oro-facio- digital (OFD) syndrome (6 families): for causative gene studies. With Prof. Anuranjan Anand, JNCASR, Bangalore Ongoing project of Noonan syndrome (250 cases enrolled) with Dr Swathi Shetty, CHG Systemic infantile hyalinosis (13 cases): with Dr Gurudatta Baraka, CHG Glycogen storage disorder (all types-43 cases): with Dr Swathi Shetty, CHG
Lysosomal Storage Disorders (LSDs)
Over the last 6 yrs, LSD diagnosis and management has been a target area of interest. Member, Indian Medical Advisory Board, Genzyme charitable access programme for free enzyme replacement therapy (ERT) to patients with treatable LSDs. We have the largest patient group in the state with LSDs evaluated, and with all clinical details catalogued. Around 400 patient families are currently registered with our centre. These include 35 families with Gaucher disease, 130 with MPS, 43 patients with Glycogen storage disorders, 5 each with Pompe and Fabry disease. Oro-facio- digital (OFD) syndrome (6 families): for causative gene studies. With Prof. Anuranjan Anand, JNCASR, Bangalore Of 100 patients receiving free ERT under this programme in India, 11 patients are under my care at CHG and related hospitals. Of these, 8 have Gaucher disease, one with MPS1, one with juvenile onset Pompe disease and one with Fabry disease.
Acute Inborn Metabolic Disorders (IMDs)
Since the last year, addressing patient referrals for acute IMDs and providing optimum management has been the focus of clinical activity. The commonest disorders seen in this group include Phenylketonuria (PKU), Organic acidaemias such as Glutaric Aciduria (GA), Methyl Malonic acidaemia and Propionic academia as well as other aminoacidopathies such as Maple Syrup Urine Disease (MSUD) These medical disorders require early identification, immediate treatment and optimal management of altered metabolite levels in the infants' blood to prevent morbidity and mortality.
