Mutations make genomes weaker - Evolution not observed
These diagnoses allow families with the same genetic conditions to connect and access support, and help inform better clinical management. The study also accelerates research into disease mechanisms and possible therapies.
Each year, thousands of babies are born who do not develop normally because of errors in their genetic makeup. This can lead to conditions such as intellectual disability, epilepsy, autism or heart defects. There are over 1,000 recognised genetic causes, however many individual developmental disorders are so rare that the genetic causes are not known. The Deciphering Developmental Disorders (DDD) study aims to find diagnoses for children with as yet unknown developmental diseases, and demonstrate that new genomic technologies can provide improved diagnostic tests.
Working with 200 NHS clinical geneticists, the researchers screened all 20,000 human genes from more than 4,000 families, from across the UK and Republic of Ireland, with at least one child affected by a developmental disorder. The DDD team focused on spontaneous new mutations that arise as DNA is passed on from parents to children. The children's conditions were also clinically assessed and the team combined the results to match up children with similar disorders to provide diagnoses.
The study team was able to diagnose children who had new mutations in genes already linked to developmental disorders—approximately one quarter of the patients in the study. In addition, they identified 14 new developmental disorders, all caused by spontaneous mutations not found in either parent.
Overall, the researchers estimated that for 42 per cent of the children in the study, a new mutation in a gene important for healthy development is likely to be the underlying cause of their condition. The DDD study also estimated that, on average, 1 in 300 children born in the UK have a rare developmental disorder caused by a new mutation. This adds up to 2,000 children a year in the UK.
They also demonstrated that older parents have a higher risk of having a child with a developmental disorder caused by a new mutation. The chances rose from 1 in 450 for 20-year old parents having a child with a rare developmental disorder to 1 in 210 for 45 year-old parents.
From this, the researchers calculated that nearly 400,000 of the 140 million annual births across the world will have a developmental disorder caused by a spontaneous new mutation that is not carried by either parent."My comment: Unfortunately human genome is rapidly getting degraded. Mutations are not able to increase the amount of biological information. Mutations are genetic errors that are not causing any kind of evolution or even adaptation. WHO has recognized over 10,000 monogenic diseases due to mutations. Mutation rate is so fast that without genome editing techniques mankind has only 150-200 generations left. Rapid mutation rate also points out that mankind is not so old as we've been taught. The evolutionary theory is the biggest lie ever. Don't get misled.
