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Specialisation – Human genetics

human genetics

Knowledge, experience and skills in:

  • the general content of training for Sections B and C
  • the prevention, detection and treatment of monogenic polygenic, multifactorial, and mitochondrial related diseases by clinical, cytogenetic, and molecular genetic, biochemical / protein chemical methods
  • advising patients and their families, taking into account psychological aspects
  • advice and assistance in preventing and treating physicians working in hospital framework of interdisciplinary cooperation
  • the calculation and assessment of genetic risks
  • the presymptomatic and predictive diagnostics
  • the principles of the formation and effect of mutations of the gene action, the molecular genetics, the formal genetics and genetic epidemiology
  • the effect of exogenous noxious agents regarding mutagenesis, teratogenesis and tumorigenesis
  • prenatal diagnosis
  • drug therapy, taking into account individual genetic predisposition
  • the fundamentals of the treatment of genetic diseases including preventive measures
  • the fundamentals of cytogenetics with cell culture of various tissues, the chromosome preparation, staining and analysis and molecular cytogenetics and the molecular karyotyping using microarray analysis
  • the fundamentals of molecular genetics and its methods as extraction and analysis of human DNA from different tissues as well as the basic techniques of sequence determination and copy number analysis
  • the basis of molecular genetic diagnosis with direct detection of gene mutations also studies in ethnicity and indirect methods of genotyping

 

Examination and treatment procedures:
clinical and genetic diagnosis of inherited diseases of congenital malformations and malformation syndromes
findings and risk assessment at
monogenic and complex inheritance patterns
numerical and structural chromosome aberrations
molecular genetic findings,
genetic counseling, including family history of glaucoma in three generations and creating an assessment empirical at 50 different diseases.
chromosome analysis
prenatal,
whereof:
including all the cultivation and preparation steps
post-natal
whereof:
Including all the cultivation and preparation steps
methods of molecular cytogenetics including chromosomal in situ hybridization,
whereof:
In interphase nuclei, including all cultivation and preparation steps
At metaphase, including all cultivation and preparation steps
pre-and postnatal molecular genetic analyzes,
whereof:
prenatally, including all required laboratory steps
Post-natal
whereof:
including all required laboratory steps

 

 
 

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