Genetics

Suffering in the shadows

Parents of medically complex children say life is a never-ending fight for help. Jordan Stead’s three-year-old daughter, Ebba, has a rare neurodevelopmental condition called CDKL5. Mark Cumby CBC. By Jessica Singer, CBC News June 3, … READ MORE

Montréal doctors’ breakthrough discovery about causes of cerebral palsy giving hope

Sienna Zakaria was born with cerebral palsy and a new breakthrough discovery about the causes of the disorder is giving her parents new new hope. CTV Montréal Matt Gilmour Video journalist, CTV News Montréal March 29, 2024 A … READ MORE

Study supports genetic testing for people with cerebral palsy

A Geisinger meta-analysis of recent research on the genetics of cerebral palsy (CP) provides evidence that genetic testing should be offered as the standard of care for people with the disorder, similar to current recommendations for … READ MORE

New therapeutic approach for osteoarthritis discovered

Osteoarthritis was long considered to be the result of wear and tear in advanced age. In the meantime, more and more studies are linking the degradation of articular cartilage to inflammatory and metabolic processes in the joint. … READ MORE

How to rewind the clock on arthritic cartilage

A new study in Aging Cell describes how a key protein, called Signal Transducer and Activator of Transcription 3 (STAT3), might turn back the clock on aging cartilage that leads to osteoarthritis. DNA. Creative Commons image by … READ MORE

What causes SIDS? Study suggests genetics may be at play in sudden infant death syndrome

The cause of sudden infant death syndrome, or SIDS, continues to be a medical mystery but a new study suggests genetics may play a role. Photo by Tim Bish on Unsplash by Adrianna Rodriguez, USA Today via Medical Xpress January 25, … READ MORE

Toronto boy whose parents raised $3M to treat his rare genetic disorder starts clinical trial

Michael Pirovolakis is the only participant in the groundbreaking clinical trial. Ioanna Roumeliotis, Perlita Stroh, CBC News Toronto August 15, 2022 After his parents desperately raised $3 million over three years trying to find a … READ MORE

Researchers identify genes at play in people with osteoarthritis

After conducting the largest study on osteoarthritis in the world, researchers are now on track to develop a medicine that can slow it down. Researchers also identified the special risk factors that exist for women and for … READ MORE

Gene therapy shows early promise as Angelman syndrome treatment

Scientists at the UNC School of Medicine have reported in the journal JCI Insight encouraging early tests of a gene therapy strategy against Angelman syndrome, a neurodevelopmental disorder that features poor muscle control and … READ MORE

World-first guidelines for children with common inherited nerve disorder 

Paediatric neurologists and allied health clinicians have developed world-first clinical practice guidelines for children with Charcot-Marie-Tooth disease (CMT), the most common childhood inherited nerve disorder. This international … READ MORE

Milestone in osteoarthritis research

Researchers found new genetic risk factors for osteoarthritis and identified novel drug targets. Their finding is a milestone towards the development of the first ever curative treatment for osteoarthritis. The study involved an … READ MORE

Contrary to the common view, cerebral palsy can be genetic

One mother of an adult child with CP told us that his genetic diagnosis absolved her of more than three decades of guilt. Many families felt they finally had a sense of closure.” – Siddharth Srivastava MD, Study Senior … READ MORE

Could genetics hold the key to preventing SIDS?

A state-of-the-art genetic biobank could hold the key to preventing Sudden Infant Death Syndrome (SIDS), potentially saving the lives of hundreds of babies who die from the devastating condition each year. Photo by Tim Bish on … READ MORE

COVID-19 is 10 times deadlier for people with Down syndrome, raising calls for early vaccination

When the COVID-19 pandemic descended last winter, Catherine Ross was filled with dread. Her 36-year-old sister, Amanda Ross, has Down syndrome (DS), which makes her especially vulnerable to respiratory viruses. Amanda Ross on the day … READ MORE

New clues to the origin and progression of multiple sclerosis

Mapping of a certain group of cells, known as oligodendrocytes, in the central nervous system of a mouse model of multiple sclerosis (MS), shows that they might have a significant role in the development of the disease. The discovery … READ MORE