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The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.

Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.

About 2.2% of women with symptoms of high male hormones have a mild form of congenital adrenal hyperplasia, and measuring a specific hormone level can accurately diagnose it.

Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.

Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.

Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.

Over 67 genes linked to ichthyosis help improve diagnosis and treatment.

There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.

The document concludes that the fast-growing direct-to-consumer genetic testing market lacks sufficient regulation, posing risks to consumers due to questionable test quality and accuracy.

Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.

A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.

Experts met to improve care for ichthyosis patients in Spain.

Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.

A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

Genetic mutations can affect female sexual development, requiring personalized medical care.

The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.

The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.

EDA signaling is linked to skin disorders, various cancers, and liver disease.

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

The baby’s hair loss was due to a rare genetic condition, not treatable by usual methods.

The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.

The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.

Vitamin D is crucial for skin health and managing skin diseases.

New genetic mutations linked to rare skin disorders were found in three newborns.

A new EDA gene mutation was found in a Chinese family with a specific skin disorder.