Genes are the fundamental unit of heredity. The study of genes is referred to as genetic or genomics (study of function & structure of genes). Over the last few decades’ research on genetics has evolved enormously. The developments in the field of cellular and molecular biology have shed light on many important aspects of genetics in medicine. Medical genetics comprises the application of genetics to medical care, diagnosis, and management of disorders both common and rare ones.

In the early 2000's Human Genome was understood and formulated. This new knowledge now serves as a catalogue of all human genes. It helps in understanding the gene structure and functionality, establishing the extent of variations among genes across populations unravelling its relevance in controlling genetic disorders. This also enables the study of the human genome in its entirety rather than one gene at a time.

These developments have benefitted genomic medicine by enabling the analysis of the entire human genome, control of gene expression, genetic variation, interactions between genes and environment, and patient care.

A medical geneticist is usually a physician who works as a part of a team of healthcare providers to evaluate patients for possible heredity disorders. Genetic Counselling is the process of informing the patient family and relatives at risk of a genetic condition regarding:

• Nature of the disorder.
• The probability of developing the disorder.
• The risk of passing it to the successive generations.

Hence, genetic counselling enables individuals to be aware and make informed decisions about available genetic testing, management, treatment, and family planning options.

Recent research shows a significant relationship between genes and illnesses. Many abnormal genes have been found in people with neurological diseases. As such significant amount of gene pool is located in the brain and the nervous system. Genes will influence the majority of functions of the body including the nervous system. This is achieved by protein synthesis which is essentially controlled by genes. Disease harbouring, manifesting, and influencing the profile of illness and transmission is a small part of gene function, particularly by the abnormal ones. However, the gene abnormalities are inherited in a small percentage but can be acquired by many known and unknown mechanisms called mutations. The mutations can be transient or permanent. Even brain tumors are associated with the presence of abnormal genes. The type of abnormalities can decide the time of onset, severity, progression, relapse or recurrence, response to treatment, and biological nature of these illnesses. Thus understanding such abnormal genes can help in planning, modifying, or altering the treatment as well as prognostication of the disease.

Indication for Genetic Counselling:

1. Previous child with intellectual disability, seizures, and all birth abnormalities

2. Family history of a genetic disorder (E.g - Cancer, Stroke, Parkinson’s disease particularly young onset ones, neuromuscular disorders, etc,)

3. Well-established genetic diseases - Huntington chorea, Tuberous sclerosis, Neurofibromatosis, syndromic craniosynostosis, syndromic epilepsy, multiple Neuroendocrine syndromes, etc.

4. Consanguinity

5. Recurrent pregnancy loss.

6. Any newly diagnosed genetic disease.

7. Pertest (predictive testing for certain common inherited disorders)

8. Teratogenic exposure (E.g., Mother’s illness during pregnancy, medication taken by mother during pregnancy).

v9. Prenatal counselling

The clinic offers clinical evaluation, diagnosis, genetic testing, genetic counseling, and treatment with other supportive services under one roof. The other Departments can also utilize the services such as

1. OBG

2. Neonatology

3. Paediatrics/ Paediatric Neurology

4. Orthopaedics

5. Haematology

6. Nephrology

7. Gastroenterology

8. Oncology

9. Endocrinology

10. Neurology and Neurosurgery

The Neurogenetics department at BRAINS is well versed with the diagnosis, treatment, management options and support for the following genetic disorders:

Parkinson’s disease

Neurofibromatosis

Von Hippel Lindau disease

Wilson’s disease

Recurrent glioma

Spinal muscular atrophy

Duchenne muscular dystrophy

Thalassemia

Guillain-Barré syndrome

Storage disorders

Neuro-metabolic disorders

Stroke in Young

Huntington’s disease

Fragile X syndrome

Craniofacial syndromes

Craniovertebral junction anomalies

Syndromic epilepsy

Developmental epileptic encephalopathy

Dementia

Services provided at Brains Hospital:

Brains Super Speciality Hospital is one of the very few hospitals in Bangalore to provide such a complete range of services for genetic disorders as well as for RARE NEUROLOGICAL CONDITIONS.

Genetic Counselling: The various services provided by the Genetic

Counselling Centre at the hospital are as follows:

1. Prenatal Counselling.

2. Pre-conception Counselling.

3. Paediatric Counselling.

4. Neuro-genetic Counselling.

5. Rare disease – diagnosis & management.