This Narrative Review discusses the need for authors to provide consistent definitions and terminologies when communicating about individuals with intellectual and developmental disabilities. ja.ma/3CHAOub

#Genechat

“Genomics-informed education and care for NDDs should be inclusive and adaptable because the number of identifiable neurogenetic conditions continues to grow and precision treatments for many neurogenetic disorders are under development.” #Genechat

A two-and-a-half-year-old girl shows no signs of a rare genetic disorder, after becoming the first person to be treated for the motor-neuron condition while in the womb. go.nature.com/4i9BpEx

#Genechat

As an outpatient pediatric GC this struck me: “only 14% of infants who received conventional care were even offered ES by the age of 15 months, suggesting that access to a PrGD further worsens upon discharge from the NICU, and only about half of these infants (6.1%) underwent ES”

After a decade of unanswered questions, IU School of Medicine’s Rare Disease Clinic identified an ultrarare genetic disorder for an Indianapolis girl, giving her family long-awaited answers: bit.ly/3XplM3F #RareDiseaseDay

Expanding the TAOK1/TAOK2 story: TAOK1 variants linked to neurodevelopmental disorders, macrocephaly, & hypotonia, while TAOK2 brings autism, obesity. 30+ novel variants ID’d—highlighting the kinase domain as a hotspot bit.ly/4ilZCr6 @NourElkhateeb14 Meena Balasubramanian

Looking for updates on #NoonanSyndrome? A study of 172 individuals with NS reveals improved developmental outcomes, phenotypic spectrum insights, and high healthcare utilization bit.ly/3Fpyp91 #RASopathies

Headed to #ACMGmtg25 and I’m excited to talk at the public health SIG forum later today!

“[genetic testing] is a diagnostic tool that doesn’t belong to us” - Powerful statement by Mira Irons at the morning session “Clinical Genetics - Where Are We Headed?” #ACMGMtg25 #Genechat

Down syndrome (DS) is the most common chromosomal condition, affecting ~5,000 babies each year in the U.S. Let's stand with individuals with DS, families, & advocates. Let’s raise awareness & support a future where everyone’s potential shines. Learn more: ndss.org/about

#Genechat 👀

Today, on Autism Awareness Day, we celebrate the many ways autism shapes individuals, families, and communities. We join the autism community in highlighting the unique perspectives, strengths, and connections that enrich us all.

Each year, thousands of newborns with #RareDiseases are identified via #NewbornScreening. This early detection can be lifesaving. The elimination of the Advisory Committee on Heritable Disorders in Newborns & Children risks the preventable death and suffering of children with

‼️ REMINDER: Research Study for Parents/Guardians 🧬Have you received genetic counseling for your child’s Fragile X syndrome diagnosis in the past 5 years? You may be eligible to participate! ⏰Takes ~15 min 📅Survey closes 7/7/25 🔗: hubs.ly/Q03r1gtm0

“The AAP recommends exome/genome sequencing as a first-tier test for GDD/ID in most circumstances because of superior diagnostic yield and higher cost-effectiveness if pursued earlier in the diagnostic process.” publications.aap.org/pediatrics/art…

The Senate just passed a budget bill that would gut Medicaid and SNAP — programs millions of kids rely on for care and nutrition. Cuts this big threaten every child’s health. Pediatricians urge the House to reject this bill and protect kids’ care. aap.org/en/news-room/n…

ACMG has officially endorsed the Access to Genetic Counselor Services Act, marking an important step forward for the genetics community & efforts to expand patient access to genetic counseling. Here’s to moving the field forward together! #precisionmedicine #genechat #ACMG #NSGC

3. Trikafta wins the Lasker–DeBakey prize 'for a major advance that improves the lives of many thousands of people' When it was first described, life expectancy in cystic fibrosis was about 7 months Trikafta was approved in 2019 — and life expectancy is almost normal now