Neonatal/pediatrics

ARPA-H program supports advances for rare genetic diseases

Fri, 10 Jul 2026 09:00:00 -0400

The Advanced Research Projects Agency for Health (ARPA-H), an agency within the U.S. Department of Health and Human Services, has announced the teams for the THRIVE (Treating Hereditary Rare diseases with In Vivo prEcision genetic medicines) program. With a commitment of up to $160 million over 5 years, THRIVE aims to accelerate solutions for rare genetic pediatric diseases across multiple technological approaches, clinical trial designs and deployment models.

CINP 2026: Prenatal and adolescent stress shape brain vulnerability

Fri, 03 Jul 2026 09:00:00 -0400

Human biology is extraordinarily complex, and that sophistication emerges from the very beginning. During embryonic and fetal development, the organism’s architecture is shaped through the organization of tissues, the establishment of molecular pathways, and the coordination of signals that will later sustain the body as an integrated system. It is likely the most delicate stage of life, where any disturbance in that foundational process can have lasting consequences on health.

Saniona reports preclinical data for SAN-2668

Thu, 18 Jun 2026 09:00:00 -0400

Saniona AB has presented preclinical data and its clinical development strategy for its lead clinical candidate, SAN-2668, which is a GABA-A receptor positive allosteric modulator under development for the treatment of severe pediatric epilepsies.

Beam Therapeutics’ BEAM-304 gains IND clearance for PKU

Thu, 18 Jun 2026 09:00:00 -0400

Beam Therapeutics Inc. has obtained IND clearance from the FDA for BEAM-304 for the treatment of phenylketonuria (PKU). BEAM-304 is a liver-targeting lipid-nanoparticle (LNP) formulation of base editing reagents designed to correct mutations in the phenylalanine hydroxylase (PAH) gene that cause PKU.

UTRN gene involved in arthrogryposis, study finds

Wed, 17 Jun 2026 09:00:00 -0400

Arthrogryposis multiplex congenita (AMC) is a group of disorders defined by two or more contractures in different body areas; while genes encoding sarcomeric proteins are usually involved in its pathogenesis, the role of the dystrophin complex is not well studied in AMC. Utrophin, encoded by the UTRN gene, is an important fetal dystrophin homologue and was the focus of a recently presented study.

Children overlooked as pediatric innovation struggles for funding

Mon, 15 Jun 2026 12:00:00 -0400

Even though children make up a quarter of the population, healthcare technologies are not often designed with them in mind. Investment in pediatric innovation remains limited with investors often viewing returns in the space as less predictable. Nevertheless, a number of companies are looking to address this and are developing technologies for kids. Afterall, with huge investments going into longevity R&D, there is a compelling case for addressing health issues at the very early stage, delegates heard at the first annual Pediatric Innovation Summit, held as part of the HLTH Europe conference in Amsterdam on June 15.

‘Detargeted’ targeted gene therapy improves activity in Pompe

Wed, 20 May 2026 09:00:00 -0400

A new strategy aims to improve gene therapy for Pompe disease by optimizing both the genetic component that restores the function of a deficient lysosomal enzyme and the vector that delivers it to the target tissue while avoiding the liver. The findings suggest that combining an optimized transgene with a targeted capsid could significantly enhance the effectiveness of gene therapy for Pompe disease.

HCW Biologics’ HCW11-040 prevents bronchopulmonary dysplasia

Fri, 15 May 2026 09:00:00 -0400

HCW Biologics Inc.’s HCW11-040 has been shown in IND-enabling studies to prevent bronchopulmonary dysplasia (BPD), a rare pediatric disease affecting underweight premature infants.

ASO therapy prevents hydrocephalus in a monogenic syndrome model

Mon, 11 May 2026 09:00:00 -0400

Researchers from McGill University and collaborating institutions aimed to investigate whether oligonucleotides are a viable drug class to prevent hydrocephalus.

AAV9-delivered AntagoNATs have preclinical efficacy as one-time treatment for Dravet syndrome

Mon, 04 May 2026 09:00:00 -0400

Dravet syndrome is a rare, severe, lifelong developmental and epileptic encephalopathy that begins in infancy and is marked by prolonged, often fever-triggered seizures that are difficult to control. It is usually caused by mutations in the SCN1A gene and is associated with developmental delay, cognitive and behavioral impairment, and reduced life expectancy.

Three pediatric brain cancer types share a pineal gland origin

Wed, 11 Mar 2026 12:00:00 -0400

Similarities among three pediatric brain tumors that arise in different structures of the CNS – pineoblastoma, retinoblastoma and Group 3 medulloblastoma – have been linked to their shared origin during pineal gland development. Scientists at St. Jude Children’s Research Hospital have identified the molecular signatures that drive these tumors from pinealocyte progenitor cells that conserve a common differentiation program, providing a shared therapeutic target for these three cancer types.

C-Further unveils pediatric cancer programs

Tue, 10 Mar 2026 09:00:00 -0400

C-Further, an international consortium supporting new therapeutics for pediatric cancers, has unveiled the first early-stage therapeutic programs in its pipeline. The company said it is advancing CF-012 and CF-033 through its collaborative model.

Three pediatric brain cancer types share a pineal gland origin

Tue, 10 Mar 2026 09:00:00 -0400

Targeting TRPM7 ameliorates neonatal HIBI, study finds

Wed, 11 Feb 2026 08:00:00 -0500

Hypoxic-ischemic brain injury (HIBI) is a condition affecting neonates and is a leading global cause of perinatal neurological morbidity, with limited therapeutic options. Regarding its pathogenesis, the ion channel-kinase transient receptor potential melastatin 7 (TRPM7) is a known contributor to HIBI pathology and was the focus of a recently reported study.

β3-Adrenoceptor agonism plays protective role in bronchopulmonary dysplasia

Wed, 28 Jan 2026 08:00:00 -0500

Bronchopulmonary dysplasia (BPD) is a chronic disease of the lungs that mainly affects premature newborns, especially those who receive mechanical ventilation, which can contribute to altering normal lung development. There are few treatment options with limited efficacy to improve the prognosis of BPD.

Succinate prodrug NV-354 protects the brain in complex I deficiency

Tue, 20 Jan 2026 08:00:00 -0500

Leigh syndrome is a fatal pediatric neurodegenerative disorder caused by mitochondrial dysfunction, most often due to defects in the mitochondrial respiratory chain. The Ndufs4 knockout (Ndufs4 KO) mouse is an established model of the disease, as loss of the NDUFS4 subunit leads to complex I (CI) deficiency and reproduces the neurological decline and pathology seen in affected children. Researchers from The Children’s Hospital of Philadelphia Research Institute and collaborators described how NV-354, a water-soluble prodrug of succinate, may mitigate this mitochondrial dysfunction.

Genedx delivers WGS prenatal testing

Wed, 07 Jan 2026 11:00:00 -0500

Genedx Holding Corp. launched Genomedx Prenatal, its whole genome sequencing test, to provide more definitive diagnoses of the causes of fetal abnormalities identified by ultrasound. By combining the company’s decade of experience in prenatal exome testing and its massive Genedx Infinity rare disease dataset, the test can determine not just whether a pregnancy has a risk of a genetic disorder but whether the fetus actually has a genetic disorder.

2025 marks a breakthrough year for in vivo gene therapies

Tue, 30 Dec 2025 08:00:00 -0500

Gene editing technologies are moving forward in preclinical development with innovative strategies designed to treat diseases at their root and even reverse them.

2025 marks a breakthrough year for in vivo gene therapies

Tue, 30 Dec 2025 08:00:00 -0500

Gene editing technologies are moving forward in preclinical development with innovative strategies designed to treat diseases at their root and even reverse them. However, many approaches still struggle to reach target cells or tissues – either they fail to arrive, or their efficacy is low. In vivo therapies face numerous challenges, but despite these hurdles, 2025 has marked a year of remarkable progress.

2025 marks a breakthrough year for in vivo gene therapies

Mon, 29 Dec 2025 08:00:00 -0500

Crescom wins FDA clearance for bone analysis

Wed, 24 Dec 2025 11:00:00 -0500

Crescom Co. Ltd., an AI musculoskeletal imaging company, gained U.S. FDA 510(k) clearance Dec. 24 for MediAI-BA, its AI-powered pediatric and adolescent bone age analysis software. Classified as a class II medical device, MediAI-BA evaluates bone age and suggests predicted adult height based on growth plate status assessed by hand and wrist X-ray imaging. Prior clinical trial results demonstrated MediAI-BA had specialist-level accuracy, recording a mean absolute deviation (MAD) of 0.39 years.

US Senate ends 2025 with no gift for kids with cancer

Tue, 23 Dec 2025 12:00:00 -0500

After being unanimously passed by the U.S. House Dec. 1, the bipartisan Mikaela Naylon Give Kids a Chance Act seemed to be headed for sure passage in the Senate before it adjourned late last week.

Osteopontin-derived peptide limits lung injury by preserving mitochondria

Tue, 23 Dec 2025 08:00:00 -0500

Bronchopulmonary dysplasia (BPD) remains a significant challenge in neonatal care, particularly affecting preterm infants with low birth weight who often require oxygen therapy or mechanical ventilation to survive.

Medline lines up IPO, Billiontoone hits the road

Wed, 29 Oct 2025 12:00:00 -0400

Medline Inc. filed a public S1 with the SEC Oct. 28, moving the IPO first signaled in December 2024 closer to reality. The Northfield, Ill.-based medical supply distributor did not disclose the number of shares to be offered or their price, but Renaissance Capital expects the IPO to raise about $5 billion, which would make it the largest in any industry this year and one of the largest ever in med tech. Billiontoone Inc. also advanced its IPO, as it began the road show for its public debut in early November.

Illumina's constellation tech a star in Genedx pilot

Wed, 15 Oct 2025 12:00:00 -0400

Genedx LLC partnered with Illumina Inc. to test whether Illumina's constellation map read technology could shed light on hard-to-detect variants that appear in rare diseases. Constellation met or exceeded the ability of other sequencing methods to detect variants implicated in multiple disorders and worked across a range of sample types, a study presented at the American Society for Human Genetics (ASHG) Annual Meeting in Boston on Oct. 15 found.

Pacbio’s Puretarget simplifies carrier screening

Mon, 29 Sep 2025 12:00:00 -0400

Up to 71% of people carry at least one pathogenic variant that could contribute to development of a heritable disorder in offspring, but until now, prospective parents often had to undergo multiple tests to understand their risks. Pacific Biosciences of California Inc. (Pacbio)’s expanded Puretarget portfolio provides a quicker and more streamlined solution as it covers all challenging tier 3 genes identified in the American College of Medical Genetics technical standard.

Storx sensors monitor fetal health during labor and delivery

Fri, 29 Aug 2025 12:00:00 -0400

Researchers from the University of California, Davis (UC-Davis) continue to assemble intellectual property in support of their development of methods and techniques which improve the accuracy of wearable sensor technologies.

AAP unveils its own updated childhood vaccine schedule

Tue, 19 Aug 2025 11:00:00 -0400

For more than 30 years, the U.S. CDC’s Advisory Committee for Immunization Practices (ACIP) and the American Academy of Pediatrics (AAP) worked together to harmonize their evidence-based vaccine schedules. Not anymore.

NrCAM as a predictor of fetal growth restriction

Tue, 29 Jul 2025 09:00:00 -0400

Collaborators in Australia, South Africa, Sweden and the U.K. have linked reduced levels of neuronal cell adhesion molecule (NrCAM) in maternal or placental blood to greater risk of fetal growth restriction in newborns and of preeclampsia in the mothers, based on analysis of various cohorts of patients from several countries.

FDA green lights Cochlear’s smart cochlear implant

Fri, 11 Jul 2025 12:00:00 -0400

Cochlear Ltd. heard good news from the U.S. FDA, as the agency approved its next-generation cochlear implant, the Nucleus Nexa System, the first smart cochlear implant system. Cochlear expects to launch the new products in the U.S. in the next few months, Brendan Murray, vice president for Cochlear Implant products portfolio and strategy told BioWorld.