Story
of Evolution: Genetics and Clinical Trials in Pediatrics
Some children born healthy with no medical
issues or birth
defects, some children are born with defects in body
structure, brain development, or body chemistry that leads to problems with
their health, development, school performance, social interaction etc, those
imbalance and disorders are the genetic disorders. The trained person or doctors who could
identify the real cause of these disorders are known as pediatric geneticist.
They suggest tests and treatments that can help in understanding and caring for
the child’s condition. The genetics of a child belongs to their own ancestors
the only difference left is of 1% genes which makes us different from each
other. Disorders occur due to some deficiency or excess of chromosomes which differentiates
a normal child from others.
Pediatrics genetic
disorders involves,
Congenital
skeletal diseases: Achondroplasia, Skeletal dysplasias: Specific
disorders, Craniofacial anomalies, Craniosynostosis syndromes, Facial clefts and holoprosencephaly , Microcephaly: A clinical genetics
approach
Cytogenetic
abnormalities: Beckwith-Wiedemann
syndrome, Clinical manifestations
and diagnosis of Turner syndrome
Congenital
cytogenetic abnormalities: Down syndrome: Clinical features
and diagnosis , Down syndrome: Management , Microdeletion syndromes
(chromosomes 1 to 11) (chromosomes 12 to 22) , Microduplication syndromes, Sex
chromosome abnormalities.
Dermatologic
disorders: The genodermatoses , Dysmorphology etc.
Birth
defects
Their
Epidemiology, Types and Patterns: Glycogen storage
diseases, Glucose-6-phosphatase
deficiency (glycogen storage disease I, von Gierke disease), Glycogen branching enzyme deficiency (glycogen storage disease
IV, Andersen disease), Glycogen debrancher deficiency
(glycogen storage disease III) , Lactate
dehydrogenase deficiency , Liver
glycogen synthase deficiency , Liver
phosphorylase deficiency (glycogen storage disease VI, Hers disease) , Lysosomal acid alpha-glucosidase
deficiency , Lysosome-associated
membrane protein 2 deficiency (glycogen storage disease IIb, Danon disease), Myophosphorylase deficiency (glycogen
storage disease V, McArdle disease) , GLUT2
deficiency and aldolase A deficiency, Phosphofructokinase
deficiency (glycogen storage disease VII, Tarui disease) , Phosphoglycerate kinase deficiency and phosphoglycerate mutase
deficiency, Phosphorylase b kinase
deficiency.
Inborn
errors of metabolism: Congenital
disorders of creatine metabolism , Disorders
of tyrosine metabolism, Galactosemia, Gaucher disease , Mucopolysaccharidoses: , Organic
acidemias , maple syrup urine
disease , phenylketonuria , Specific fatty acid oxidation
disorders, Urea cycle disorders, Wilson disease.
Neurologic
disorders: Charcot-Marie-Tooth disease , Osler-Weber-Rendu syndrome, Fabry disease , Fragile X syndrome , Huntington
disease , Krabbe disease , hereditary hemorrhagic telangiectasia, Metachromatic leukodystrophy, von Hippel-Lindau disease , Neurofibromatosis type 1 (NF1), Niemann-Pick disease , Rett syndrome , The spinocerebellar ataxias , Tuberous sclerosis complex
Renal
disease: Autosomal
dominant polycystic kidney disease in children , Autosomal dominant tubulointerstitial kidney disease (medullary
cystic kidney disease) , Autosomal
recessive polycystic kidney disease in children , von Hippel-Lindau disease ,
Congenital and infantile nephrotic syndrome , Cystinosis , Genetics
and pathogenesis of nephronophthisis , Nail-patella
syndrome , Primary hyperoxaluria , Williams-Beuren syndrome .
Disorders needs
treatment for which we use medicines and go for some clinical trials and those clinical
trials involves some experimentation. They provide some reliable evidence and
controlled testing with their knowledge of medicines and treatments. Paediatric
trials are more challenging to conduct than trials in adults due the concern of
child and ethics, still the advancement and technological growth are improving
the quality of clinical trials in children.
Pharmacokinetic studies, required for assigning the dosage forms and quantity of
medicinal doses are important in the different paediatric age ranges, any type
of analysis and dosage issues are followed only after the consideration of
child age and the related pharmacodynamics with that particular disorder or
treatment. Lastly all this procedures and methods are completely handled under
the guidance of health organization, all the risks and framework are under the
wellbeing safeguard of the department of health and human services reviewing with the ethics of paediatrics
.these ethics and developmental science will surely leads to a disease free
world.
