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Genetic testing can identify treatable neurodevelopmental disorders

Samantha A. Vergano, M.D., FAAP, and Bianca Russell, M.D.
Published: September 01, 2024
TOPICS: Genetics, Neurologic Disorders
Abstract
Rett syndrome and metachromatic leukodystrophy are two neurodevelopmental disorders that general pediatricians may encounter for which treatment is available.
View News titled, Genetic testing can identify treatable neurodevelopmental disorders
News

Genetics community looks for ways to improve equity, diversity, inclusion

Amanda B. Pritchard, M.D., FAAP, and Stephanie L. Santoro, M.D., FAAP
Published: November 01, 2023
TOPICS: Genetics, Diversity, equity and inclusion
Abstract
Diversity in trainees, health professionals and research participants will enable the best care for all patients.
View News titled, Genetics community looks for ways to improve equity, diversity, inclusion
News

FDA approves first gene therapy for Duchenne muscular dystrophy

Alyson Sulaski Wyckoff, Associate Editor
Published: June 22, 2023
TOPICS: Birth Defects, Gene Therapy, Genetics
Abstract
Elevidys, given to patients as a single dose, is approved for use in children ages 4 through 5 years with a confirmed mutation in the DMD gene.
View News titled, FDA approves first gene therapy for Duchenne muscular dystrophy
News

AAP updates health supervision guidance for patients with Marfan syndrome

Leah W. Burke, M.D., FAAP
Published: March 20, 2023
TOPICS: Cardiovascular Disorders, Genetics
Abstract
Among the guidance is an expanded section on the cardiovascular system, the major source of morbidity and mortality in patients with this syndrome.
View News titled, AAP updates health supervision guidance for patients with Marfan syndrome
News

Genomic sequencing could end diagnostic odyssey for children with developmental disabilities

Leah W. Burke, M.D., M.A., FAAP
Published: January 01, 2023
TOPICS: Disabilities, Genetics
Abstract
Pediatricians will need to be prepared to discuss the implications of exome or genome sequencing with their patients and families.
View News titled, Genomic sequencing could end diagnostic odyssey for children with developmental disabilities
News

AAP updates guidance for care of children, adolescents with Down syndrome

Marilyn J. Bull, M.D., FAAP
Published: April 18, 2022
TOPICS: Developmental/Behavioral Issues, Disabilities, Genetics
Abstract
An updated AAP clinical report aims to assist pediatricians in caring for children with Down syndrome and their families from a prenatal diagnosis to early adulthood.
View News titled, AAP updates guidance for care of children, adolescents with Down syndrome
News

Report on leukodystrophies highlights advances in imaging, diagnosis, care

Joshua L. Bonkowsky, M.D., Ph.D., FAAP
Published: September 02, 2021
TOPICS: Genetics, Health Information Technology, Medical Home, Medical Technology and Advancement, Neurologic Disorders, Neurology
Abstract
Leukodystrophies affect nearly one in 4,500 births, and most pediatricians will care for a child with a leukodystrophy.
View News titled, Report on leukodystrophies highlights advances in imaging, diagnosis, care
News

Report on leukodystrophies highlights advances in imaging, diagnosis, care

Joshua L. Bonkowsky, M.D., Ph.D., FAAP
Published: August 23, 2021
TOPICS: Genetics, Health Information Technology, Medical Home, Medical Technology and Advancement, Neurologic Disorders, Neurology
Abstract
Leukodystrophies affect nearly one in 4,500 births, and most pediatricians will care for a child with a leukodystrophy.
View News titled, Report on leukodystrophies highlights advances in imaging, diagnosis, care
News

Studies look at feasibility, utility of genomic sequencing in newborns

Leah W. Burke, M.D., M.A., FACMG, FAAP
Published: July 01, 2021
TOPICS: Epigenetics, Fetus/Newborn Infant, Genetics, Metabolic Disorders
Abstract
One issue with genomic sequencing is how to handle incidental findings.
View News titled, Studies look at feasibility, utility of genomic sequencing in newborns
News

Dr. Fauci dismisses concerns about COVID-19 vaccines impacting children’s genetics

Melissa Jenco, News Content Editor
Published: March 17, 2021
TOPICS: Genetics, Infectious Diseases, Vaccine/Immunization, COVID-19
Abstract
Dr. Fauci’s comments about vaccination came amid announcements from federal health officials about funding for schools and underserved communities, updated CDC testing guidance and a new study on vaccine equity.
View News titled, Dr. Fauci dismisses concerns about COVID-19 vaccines impacting children’s genetics
News

New clinical report addresses management of MCADD

Alyson Sulaski Wyckoff, Associate Editor
Published: December 28, 2020
TOPICS: Gastroenterology, Genetics
Abstract
Medium-chain acyl-coenzyme A dehydrogenase deficiency affects one in 13,000-19,000 people in the U.S.
View News titled, New clinical report addresses management of MCADD
News

Pharmacogenetic testing for psychotropic medications of limited value in children

Samantha A. Schrier Vergano, M.D., FACMG, FAAP
Published: July 01, 2020
TOPICS: Genetics
Abstract
Many nongenetic variables are at play with all psychiatric conditions, including concurrent medical conditions, interactions with other drugs and medication compliance.
View News titled, Pharmacogenetic testing for psychotropic medications of limited value in children
News

Ophthalmic genetics in the era of gene therapy

Alex V. Levin, M.D., M.H.Sc., FRCSC, FAAP; Virginia Miraldi Utz, M.D., FAAP
Published: May 01, 2020
TOPICS: Gene Therapy, Genetics, Ophthalmology
Abstract
DNA diagnosis a critical first step for children to potentially gain access to trials and eventual treatment.
View News titled, Ophthalmic genetics in the era of gene therapy
News

Clinical report updates guidance on treating Williams syndrome

Alyson Sulaski Wyckoff, Associate Editor
Published: January 21, 2020
TOPICS: Genetics
Abstract
Williams syndrome, or Williams-Beuren syndrome, is a multisystem genetic disorder resulting from a deletion of a portion of chromosome 7.
View News titled, Clinical report updates guidance on treating Williams syndrome
News

Want to test your child with a direct-to-consumer genetic test? Read this first

Trisha Korioth, Staff Writer
Published: December 26, 2019
TOPICS: Genetics
Abstract
Wrong results can cause parents to make poor choices or needless health and lifestyle changes.
View News titled, Want to test your child with a direct-to-consumer genetic test? Read this first
News

Joint clinical report updates guidance on neurofibromatosis type 1

David T. Miller, M.D., Ph.D., FACMG, FAAP; Debra L. Freedenberg, M.D., Ph.D., M.Phil., FACMG, FAAP
Published: April 22, 2019
TOPICS: Genetics
Abstract
NF1 is one of the most common single-gene conditions, with a prevalence of about one in 3,000 people, similar to cystic fibrosis.
View News titled, Joint clinical report updates guidance on neurofibromatosis type 1
News

FDA warns public about genetic test claims

from the Food and Drug Administration’s Division of Pediatric and Maternal Health, Center for Drug Evaluation and Research, Center for Devices and Radiologic Health, and the Office of Pediatric Therapeutics
Published: December 27, 2018
TOPICS: Genetics, Pharmacology
Abstract
The Food and Drug Administration (FDA) is warning the public about genetic laboratory tests that claim to predict how a patient will respond to medications used to treat depression, acid reflux and other conditions.
View News titled, FDA warns public about genetic test claims
News

Lack of reliability, privacy plague DTC genetic tests for newborns

Alyson Sulaski Wyckoff, Associate Editor
Published: October 24, 2018
TOPICS: Genetics
Abstract
The number of companies offering various forms of direct-to-consumer genetic testing is growing rapidly, but the AAP and others have expressed concerns.
View News titled, Lack of reliability, privacy plague DTC genetic tests for newborns
News

When to refer a child with hypermobility for further evaluation

Joan M. Stoler, M.D., FAAP
Published: July 12, 2018
TOPICS: Genetics
Abstract
Children have more hypermobile joints than adults, and their skin can be soft and pliable. These are both features of a group of 13 connective tissue disorders.
View News titled, When to refer a child with hypermobility for further evaluation
News

New approach to developing cystic fibrosis treatments may have wider applications

from the Food and Drug Administration’s Division of Pulmonary, Allergy and Rheumatology Products, Office of Clinical Pharmacology, Division of Pediatric and Maternal Health, and Office of Pediatric Therapeutics
Published: May 30, 2018
TOPICS: Genetics, Pulmonology
Abstract
Earlier this year, the Food and Drug Administration (FDA) approved Symdeko (tezacaftor/ivacaftor) tablets for the treatment of certain cystic fibrosis (CF) patients 12 years and older.
View News titled, New approach to developing cystic fibrosis treatments may have wider applications