Genetic medicine

Genetic Medicine

Genetic medicine specializes in the diagnosis, management and treatment of genetic disorders through the understanding of genetic variations and mutations. It includes clinical genetics, genetic counseling, molecular genetics and genomic medicine to provide personalized medical care based on an individual’s genetic makeup.
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Specialties in Genetic Medicine:

Medical Genetics: Diagnoses and manages genetic disorders through clinical evaluation and genetic testing.
Genetic Counseling: Offers support and information to individuals and families about genetic conditions and their risks.
Molecular Genetics: Studies the molecular mechanisms and changes in genes that lead to genetic disorders.
Clinical Genetics: Provides direct patient care for genetic conditions, including diagnosis, management, and treatment.
Genomic Medicine: Applies genomic information, such as DNA sequencing, to tailor medical care and treatment strategies.

Genetic Diseases and Conditions:

Chromosomal Disorders: Caused by abnormalities in chromosome number or structure.
Down Syndrome: Extra chromosome 21 causing developmental and intellectual delays.
Turner Syndrome: A condition in females where one X chromosome is missing or partially missing.
Klinefelter Syndrome: A condition in males with an extra X chromosome.
Patau Syndrome: Extra chromosome 13 leading to severe intellectual disability and physical abnormalities.
Edwards Syndrome: Extra chromosome 18 causing severe developmental and physical issues.

2. Single-Gene Disorders: Result from mutations in a single gene.

Cystic Fibrosis: Affects respiratory and digestive systems due to mutations in the CFTR gene.
Sickle Cell Disease: Causes abnormal hemoglobin, leading to sickle-shaped red blood cells.
Huntington’s Disease: Progressive brain disorder caused by a mutation in the HTT gene.
Duchenne Muscular Dystrophy: Causes muscle degeneration due to mutations in the dystrophin gene.
Hemophilia: A blood clotting disorder due to mutations in clotting factor genes.
Tay-Sachs Disease: A neurodegenerative disorder caused by a deficiency in hexosaminidase A enzyme.

3.Complex Genetic Disorders: Involve multiple genes and environmental factors.

Diabetes Mellitus: A metabolic disorder characterized by high blood sugar levels.
Heart Disease: Includes various conditions affecting the heart and blood vessels.
Autism Spectrum Disorders: A range of neurodevelopmental disorders affecting communication and behavior.
Schizophrenia: A mental health disorder characterized by delusions, hallucinations, and disorganized thinking.
Certain Cancers: Genetic predispositions, such as BRCA1/2 mutations, increase the risk of breast cancer.

4. Metabolic Disorders: Affect the body's ability to metabolize certain substances.

Phenylketonuria (PKU): An inability to metabolize phenylalanine, leading to intellectual disability.
Maple Syrup Urine Disease: Involves a deficiency in the enzymes that break down branched-chain amino acids.
Galactosemia: Affects the metabolism of galactose, a sugar found in milk.
Homocystinuria: A disorder affecting the metabolism of the amino acid homocysteine

5. Mitochondrial Disorders: Result from defects in mitochondrial function

Leber Hereditary Optic Neuropathy: Leads to sudden vision loss due to mutations in mitochondrial DNA.
Mitochondrial Myopathy: Causes muscle weakness and pain due to mitochondrial dysfunction.
MELAS Syndrome: Characterized by mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes.

6. Genetic Syndromes: A group of symptoms that occur together and are caused by genetic mutations.

Marfan Syndrome: Affects connective tissues, leading to cardiovascular, skeletal, and ocular abnormalities.
Ehlers-Danlos Syndrome: Causes hyperelastic skin and joint hypermobility due to connective tissue defects.
Neurofibromatosis: Causes tumors to grow on nerves due to mutations in the NF1 or NF2 genes.
Prader-Willi Syndrome: Causes chronic hunger, obesity, and intellectual disability due to genetic abnormalities on chromosome 15.
Angelman Syndrome: Results in severe developmental delays, speech impairment, and a happy demeanor due to a deletion on chromosome 15.

Treatments/Procedures:

1. Genetic Testing: Identifies genetic disorders or predispositions.
   – Diagnostic Testing: Confirms or rules out a genetic condition in symptomatic individuals.
   – Carrier Screening: Determines if an individual carries a gene for a recessive genetic disorder.
   – Prenatal Testing: Assesses the fetus for genetic conditions during pregnancy.
   – Newborn Screening: Tests newborns for genetic disorders that require early intervention.
   – Predictive and Pre-symptomatic Testing: Identifies genetic risk before symptoms appear.
1. Gene Therapy: Aims to treat or cure genetic disorders by modifying genes within a patient’s cells.
– Insertion of Normal Genes: Replaces defective genes with functional ones.
– Gene Editing: Techniques like CRISPR-Cas9 directly alter DNA to correct mutations.
1. Genetic Counseling: Provides information and support about genetic conditions, risk assessment, and family planning.
1. Personalized Medicine: Customizes medical care based on an individual’s genetic profile.
1. Specialized Care: Includes targeted therapies and management strategies tailored to specific genetic conditions.
1. Prenatal Interventions: Diagnostic procedures during pregnancy to assess fetal health.
– Chorionic Villus Sampling (CVS): Collects placental tissue to test for genetic disorders.
– Amniocentesis: Obtains amniotic fluid to analyze fetal cells for genetic abnormalities.
1. Preimplantation Genetic Diagnosis (PGD): Tests embryos for genetic conditions before implantation during in vitro fertilization.
1. Reproductive Techniques: Methods like IVF with genetic screening to prevent passing genetic disorders to offspring.

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