Category Archives: Congenital disorders

Possible Complications From Spinal Muscular Atrophy

In SMA, pliable muscles are replaced with stiffer tissues over time, limiting range of motion. When a joint remains stuck and refuses to open up, it’s called a contracture, which most commonly affects your shoulders, knees, wrists, elbows, hips and ankles. “The challenge with progressive loss of movement is that the joints get stuck,” says […]

Mumbai News: Over 200 Kids Died Of Heart Ailments In 2022

Mumbai: In 2022, 253 children aged below 14 years died due to heart-related ailments, according to the data provided by the state health department. In India, more than two lakh children are born with congenital heart defects every year and a staggering 20% of them require life-saving interventions within the first year of their life. […]

Toddler with Gaucher Disease gets Life-Saving Treatment, thanks to Rare Diseases South Africa

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ARPA-H’s First Industry Grant Sends $37M to Thymmune Therapeutics

The Advanced Research Projects Agency for Health (ARPA-H), part of the U.S. Department of Health and Human Services, has announced up to $37 million to restore function to the thymus through funding to the biotechnology company, Thymmune Therapeutics. “We’re thrilled to announce this recent support from ARPA-H. This funding will empower us to reshape drug […]

This virus is a leading cause birth defects. Why isn’t it screened more?

A leading cause of birth defects is a virus that many expectant parents have never heard about. That may change soon thanks to the advocacy of parents whose children suffered birth defects due the common virus: they’ve made a breakthrough this week, securing screenings within hours of birth for newborn babies. Cytomegalovirus, or CMV, infects […]

Newborn screening: What happens when babies are screened at birth?

Having a baby is a beautiful feeling for a parent, but you can’t deny that it comes with a lot of responsibilities. First and foremost in parenting is taking care of your child and ensuring that your baby is healthy. Enters newborn screening which is important for newborn babies. It refers to screening of newborns […]

Baylor Genetics to Present Scientific Research Findings at Upcoming NORD, NSGC and ASHG Conferences

HOUSTON, Oct. 02, 2023 (GLOBE NEWSWIRE) — Baylor Genetics, a clinical diagnostic laboratory at the forefront of genetic testing, today announced its scientists and genetic counselors will present 10 research abstracts at three major upcoming conferences, including the National Organization for Rare Disorders (NORD) Breakthrough Summit, National Society of Genetic Counselors (NSGC) Annual Conference, and […]

An Infant’s Remarkable Progress Shows Why Rusk Rehabilitation Is Still at Its Best After 75 Years

If Howard A. Rusk, MD, who founded NYU Langone Health’s Rusk Rehabilitation 75 years ago as the world’s first comprehensive medical training program in rehabilitation medicine, could see 18-month-old Ryan Ahn Joelson in action, he would find proof of his belief that people with disabilities produce their own miracles. If he could witness the multidisciplinary […]

NY baby screenings add test for virus causing deafness

Starting Monday, newborns in New York will be screened for congenital cytomegalovirus — a virus that can cause deafness or other health complications for babies born with the affliction. The free test is now part of a baby’s routine newborn screening. New York will be the second state to screen all babies for the virus after Minnesota, the state […]