Genetic Disorder News and Research

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A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.
Researchers use machine learning to shed light on genetic mutations linked with spina bifida

Researchers use machine learning to shed light on genetic mutations linked with spina bifida

Repurposed ALS drug could slow gradual brain cell loss in Niemann-Pick disease type C1

Repurposed ALS drug could slow gradual brain cell loss in Niemann-Pick disease type C1

Urothelial cancers in Lynch Syndrome patients can be detected using a simple, cheap urine test

Urothelial cancers in Lynch Syndrome patients can be detected using a simple, cheap urine test

Results of high-impact clinical trials could affect kidney-related medical care

Results of high-impact clinical trials could affect kidney-related medical care

Why do autistic children struggle with hidden emotions?

Why do autistic children struggle with hidden emotions?

Famous scientist joins NYU Langone’s Division of Rheumatology

Famous scientist joins NYU Langone’s Division of Rheumatology

New source of stem cells could help treat people with Alagille syndrome

New source of stem cells could help treat people with Alagille syndrome

Parent Project Muscular Dystrophy successfully completes the Newborn Screening Pilot project

Parent Project Muscular Dystrophy successfully completes the Newborn Screening Pilot project

No papers, no care: Disabled migrants seek help through lawsuit, activism

No papers, no care: Disabled migrants seek help through lawsuit, activism

Albert Einstein College of Medicine receives $5 million NIH grant for IDD research

Albert Einstein College of Medicine receives $5 million NIH grant for IDD research

Experimental device offers glycemic control to hyperinsulinism patients after pancreatectomy

Experimental device offers glycemic control to hyperinsulinism patients after pancreatectomy

Molecular underpinning of chronic bone infection in patients with mycobacterial disease revealed

Molecular underpinning of chronic bone infection in patients with mycobacterial disease revealed

Researchers develop a machine learning-based screening tool for genetic syndromes in children

Researchers develop a machine learning-based screening tool for genetic syndromes in children

Liquid biopsies could help identify, track bladder cancer and peripheral nerve tumors

Liquid biopsies could help identify, track bladder cancer and peripheral nerve tumors

New, one-stop method developed to avoid de novo genetic disease in embryos

New, one-stop method developed to avoid de novo genetic disease in embryos

Finding the genetic cause of childhood epilepsy helps improve treatment and care

Finding the genetic cause of childhood epilepsy helps improve treatment and care

Researchers develop brain organoids that show neural activity similar to living human brains

Researchers develop brain organoids that show neural activity similar to living human brains

Infantile sudden death associated with a de novo genetic mutation in the SOS1 gene

Infantile sudden death associated with a de novo genetic mutation in the SOS1 gene

Mutated enzyme impairs communication between neurons and causes motor defects in SCA34 model

Mutated enzyme impairs communication between neurons and causes motor defects in SCA34 model

Start codon disruption with CRISPR-Cas9 gene editing prevents Fuchs’ corneal dystrophy in mice

Start codon disruption with CRISPR-Cas9 gene editing prevents Fuchs’ corneal dystrophy in mice