Articles related to Medical Genetics

A laboratory study suggests it may be possible to selectively silence an extra chromosome in Down syndrome cells, offering a glimpse into future genetic approaches rather than a near‑term treatment.

“Families and health care professionals now have the option to consider a once-weekly growth hormone as treatment with 313 injection free days per year for their children 2.5 years and older with ISS, NS, and born SGA,” said Dr Aristides Maniatis, Founder, Rocky Mountain Pediatric Endocrinology.

“Delay in diagnosis will result in delay in amplification, with subsequent delay in language and even cognitive development.” — Julie Wei, MD, Akron Children’s Hospital

“When it is proven to be safe, durable, deliverable in young children, and clearly improves long-term communication outcomes, not just hearing thresholds, then it becomes a routine referral.” — Julie Wei, MD, Akron Children’s Hospital

“Now that we have a treatment for genetic deafness, our hope is that this will spur universal genetic testing in all kids with hearing loss.” —Lawrence Lustig, MD, CHORD study investigator

“It’s essentially the same as proving that it’s OK for babies to play with matches, but only if there’s nothing flammable in the area and they’re wearing fireproof clothing.” – William Parker, on over-adjustment in sibling studies