At the very core of genetic diseases are – well, our genes. However, each year, an estimated 400,000 infants are born with de novo mutations, or new and spontaneous gene mutations not yet before seen. Because of this, there are still hundreds, if not thousands, of genes linked to developmental disorders that have yet to be discovered. But according to ScienceDaily, new research has begun identifying some of these genes. Most recently, a study published in Nature discussed how researchers used research and healthcare data to identify 28 genes newly linked to developmental disorders.
Genes and De Novo Mutations
All of us have genes. Genes are passed from parents to children, and help develop our traits and characteristics. However, genetic disorders are caused by gene additions, deletions, or mutations. In this research, researchers specifically focused on developmental disorders caused by de novo gene mutations. According to MedLine Plus:
Genetic changes that are described as de novo (new) mutations can be either hereditary or somatic. In some cases, the mutation occurs in a person’s egg or sperm cell but is not present in any of the person’s other cells.
So in some cases, de novo mutations result in a child developing a disorder with no family history. An article in Nature Review Genetics also notes:
that de novo mutations play a prominent part in rare and common forms of neurodevelopmental diseases, including intellectual disability, autism and schizophrenia.
Nearly every person is born with these genes. However, in most cases, de novo mutations do not cause developmental disorders. So which mutations do cause these conditions, and how can researchers nail them down? Unfortunately, while research is making strides, researchers will ultimately need increased health data for the most comprehensive understanding. This is slightly difficult. On one hand, patient data needs to be made more accessible. Additionally, it needs to be very focused patient data that relates to this specific group of patients.
This study wanted to determine de novo genes that would help nearly 500 families find diagnoses for their children. First, researchers analyzed 31,058 exome sequence “trios,” consisting of sequences from parents and a child. This data was provided from GeneDX, the Radboud University Medical Center, and the Wellcome Sanger Institute. Next, researchers explored specific gene variances, as well as determined the statistical probabilities of more mutations.
Overall, the study found 285 genes associated with developmental disorders. Of these, 28 had never been previously linked to a developmental disorder. This type of research is extremely important in advancing the field of genetic research. Altogether, a majority of pediatric patients with development disorders have not yet received a concrete diagnosis. According to the study, this is an estimated 60% of all pediatric patients with a developmental disorder. Researchers surmise this is because over half of these patients have a still undiscovered gene mutation.
Researchers now advocate for increased access to healthcare data. Through this, they believe researchers will be able to better understand and discover genetic disorders, focus research, and provide clearer diagnoses and better potential treatment options.