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Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.

Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.

Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.

A specific gene mutation causes Olmsted syndrome.

New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.

A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.

A patient with a rare disease had a unique genetic mutation linked to their symptoms.

Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.

A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.

Researchers found a new mutation causing total hair loss from birth.

A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.

Portable point-of-care testing can improve quick and accurate genetic disorder detection.

Mice lacking the PPARγ gene in their fat cells had almost no fat tissue, severe metabolic problems, and abnormal development of other fat-related tissues.

A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.

5% topical minoxidil improves hair density and quality in monilethrix patients.

Pachyonychia congenita is linked to a keratin gene on chromosome 17.

A specific gene mutation causes a severe skin disorder in a family.

A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.

Non-coding RNAs may be key in diagnosing and treating rare skin disorders.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

African American men with prostate cancer have more androgen receptor mutations, which may lead to more aggressive cancer compared to Caucasian American men.

Researchers found two new genetic variants linked to Alzheimer's disease.

Defective protein folding due to a mutation is key in ANE syndrome.

A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.

The TRPV3 gene variant may cause the long-haired suri alpaca coat.

The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.

A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.

Mutations in the P2RY5 gene cause hereditary woolly hair.

A new gene variant in the DSP gene is linked to a unique type of hair loss.

Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.