Genetics
Cerebral palsy has genetic cause in up to one quarter of patients
Cerebral palsy, or CP, has widely been viewed as the result of perinatal oxygen deprivation or other birth-related factors like prematurity.
Jan 31, 2022
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Page 5 - News tagged with rare genetic disorders
Genetics
New test to screen newborns for rare genetic disorders paves the way for earlier diagnosis and treatment
A newly developed test to screen for three rare genetic disorders simultaneously in newborns was feasible, reliable and scalable, according to a new study.
Jan 24, 2022
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Diseases, Conditions, Syndromes
Study offers new insights into basal ganglia diseases
Basal ganglia are deep grey matter structures in the brain involved in the control of posture and voluntary movements, cognition, behaviour, and motivational states. Several conditions are known to affect basal ganglia during ...
Jan 6, 2022
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Diseases, Conditions, Syndromes
Mechanism identified for rare disorder of glycosylation
Greenwood Genetic Center (GGC) researchers are reporting the discovery of a mechanism that contributes to the tissue phenotypes seen in PMM2-CDG, the most common of the congenital disorders of glycosylation (CDGs).
Dec 8, 2021
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Medications
Repurposed ALS drug shows promise in mouse model of rare childhood genetic disorder
Riluzole, a drug approved to treat amyotrophic lateral sclerosis (ALS), a disease affecting nerve cells controlling movement, could slow the gradual loss of a particular brain cell that occurs in Niemann-Pick disease type ...
Nov 19, 2021
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Genetics
Gene therapy may reverse Hurler syndrome, a rare and severe illness in kids
Gene therapy might soon offer a new option for children with a rare genetic disorder that damages tissues throughout the body, researchers are reporting.
Nov 18, 2021
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Overweight & Obesity
Blakemore-Durmaz-Vasileiou syndrome: Rare form of obesity named
A Brunel University London professor has joined the illustrious pantheon of Hans Asperger and John Langdon Down by having a syndrome named after her.
Sep 28, 2021
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Autism spectrum disorders
Cost of raising a child with rare genetic disorder significant but could be reduced by earlier diagnosis
The cost of raising a child with a rare genetic disorder was significant but the economic burden could be reduced by earlier diagnosis and targeted treatment, a new study has found.
Aug 26, 2021
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Genetics
Innovative gene therapy 'reprograms' cells to reverse neurological deficiencies
A novel method of gene therapy is helping children born with a rare genetic disorder called AADC deficiency that causes severe physical and developmental disabilities. The study, led by researchers at The Ohio State University ...
Jul 12, 2021
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Medical research
Study shows how loss of de-N-glycosylation enzyme causes ill effect
Cytosolic peptide:N-glycanase (NGLY1) is a widely conserved enzyme involved in de–N-glycosylation of N-glycosylated proteins. Mutations in the human NGLY1 gene cause global developmental delay and multisystemic symptoms, ...
Jul 6, 2021
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