Tale on Genome-Sequencing Diagnostics for Congenital Disorders of Glycosylation
Children who are born with rare, inherited conditions known as Congenital Disorders of Glycosylation or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars.
Children who are born with rare, inherited conditions known as Congenital Disorders of Glycosylation or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars.
‘Genome-wide testing of DNA methylation, a mechanism of the epigenome, has been shown to facilitate the diagnosis of previously unsolved cases of neurodevelopmental or congenital abnormalities. ’
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Current testing of patients who present with neurodevelopmental and congenital anomalies leaves a number of cases undiagnosed or unexplained. "Many families spend years going through repeated testing and assessments, in search of a diagnosis. This process is hard on patients and families, and is a great cost to our health care system," explains Dr. Bekim Sadikovic, Associate Scientist at Lawson, and Head of the Molecular Genetics Division in the Department of Pathology and Laboratory Medicine, London Health Sciences Centre (LHSC). While currently there are limited treatment options associated with many of these conditions, providing a specific diagnosis can help physicians better predict the course of the disease, allowing for better planning and support for the patient. This research highlights the value of epigenomic testing in the routine assessment of neurodevelopmental and congenital disorders.
From this research, LHSC will be the first site in the world to offer this type of genetic testing. "We are excited to make this testing accessible to local patients, and across the world. Our lab has partnered and licensed this technology to Greenwood Genetics Laboratories in the United States and Amsterdam University Medical Centre Laboratories in the European Union", says Dr. Sadikovic. 100 per cent of revenue will be funneled back to support local testing for patients and ongoing research.
Empowered Prenatal Diagnostic Environment In Which DNA Sequencing Becomes The Standard Of Care
Scientists reported that the whole genome sequencing of the DNA code of three prenatal samples provided a detailed map of the locations of their chromosomal abnormalities in 14 days.
Scientists reported that the whole genome sequencing of the DNA code of three prenatal samples provided a detailed map of the locations of their chromosomal abnormalities in 14 days.
This is one example of how Lawson is contributing to making Ontario Healthier, Wealthier and Smarter.
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Basics of Rare Diseases - Types, Diagnosis and Treatment
Rare or orphan diseases are least understood of all chronic diseases. They are more common than projected and kill more people than cancer and HIV together.
Rare or orphan diseases are least understood of all chronic diseases. They are more common than projected and kill more people than cancer and HIV together.
Test Your Knowledge on Rare Diseases
Rare or orphan diseases are the least understood of all the categories of chronic diseases. Rare diseases are more common than projected and globally they take away more lives than cancer and HIV combined.
Globally around 350 million people are estimated to live with a rare disease. Currently, there are 7000 rare diseases with newer ones being discovered each year. 80% of rare diseases have a genetic origin. Rare diseases may be single-gene disorders or multiple- gene disorders. Almost 50% of those affected are children and 30% of these children will not live beyond the age of 5. It takes nearly 7 years to diagnose a rare disease. 95% of rare diseases do not have a cure.
Rare or orphan diseases are the least understood of all the categories of chronic diseases. Rare diseases are more common than projected and globally they take away more lives than cancer and HIV combined.
Globally around 350 million people are estimated to live with a rare disease. Currently, there are 7000 rare diseases with newer ones being discovered each year. 80% of rare diseases have a genetic origin. Rare diseases may be single-gene disorders or multiple- gene disorders. Almost 50% of those affected are children and 30% of these children will not live beyond the age of 5. It takes nearly 7 years to diagnose a rare disease. 95% of rare diseases do not have a cure.
