Xeroderma Pigmentosum News and Research

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LMU researchers shed light on DNA repair mechanisms in Cockayne syndrome

Cockayne syndrome is a severe autosomal recessive disorder caused by defective DNA repair mechanisms.

10 Apr 2024

Non-melanoma skin cancer causing greater number of global deaths than melanoma, study finds

Non-melanoma skin cancer (NMSC) is causing a greater number of global deaths than melanoma, the more serious form of skin cancer, a new study presented today at the European Academy of Dermatology and Venerology (EADV) Congress 2023 has found.

10 Oct 2023

Study unveils potential early detection algorithm for neurodegeneration in rare genetic disorder

Xeroderma pigmentosum (XP) is a rare and devastating genetic disorder characterised by an inability to repair skin damage caused by ultraviolet (UV) light.

11 Jun 2023

Study identifies NCOA3 as a novel therapeutic target for melanoma

For the first time, activation of nuclear receptor coactivator 3 (NCOA3) has been shown to promote the development of melanoma through regulation of ultraviolet radiation (UVR) sensitivity, cell cycle progression and circumvention of the DNA damage response.

25 Mar 2021

Scientists examine DNA repair pathways and their impact on cancer evolution

DNA repair pathways exist to correct molecular damage caused by internal and external factors. However, any damage to these pathways can result in the creation of tumors and specific types of cancers.

17 Feb 2021

Research illuminates regulatory mechanism of ubiquitin-proteasome system in DNA damage repair

An international research team has clarified the regulatory mechanism of the ubiquitin-proteasome system in recognizing and repairing DNA that has been damaged by ultraviolet (UV) light.

8 Dec 2020

Deciphering the largest CRISPR system

Professor Guillermo Montoya spoke to News-Medical on his research that involved visualizing the largest and most complex CRISPR system.

17 Aug 2020

Study: Direct and repetitive irradiation with 222nm UVC does not cause skin cancer

Joint research between Kobe University and Ushio Inc. has provided proof for the first time in the world that direct and repetitive illumination from 222nm ultraviolet radiation C (UVC), which is a powerful sterilizer, does not cause skin cancer.

7 Apr 2020

UV-DDB protein scouts DNA damage and oversees repair

In the time it takes you to read this sentence, every cell in your body suffers some form of DNA damage. Without vigilant repair, cancer would run rampant, and now scientists at the University of Pittsburgh have gotten a glimpse of how one protein in particular keeps DNA damage in check.

22 Jul 2019

Researchers identify common genetic signature among three rare skin diseases

A group of researchers lead by a lecturer from the Universidad Carlos III de Madrid, Marcela del Río, from the CIEMAT, the Rare Diseases Networking Biomedical Research Centre and Fundación Jiménez Díaz has identified a common genetic signature among three rare skin diseases or genodermatoses: recessive dystrophic epidermolysis bullosa, Kindler syndrome and xeroderma pigmentosum.

5 Mar 2019

Anti-diabetic drug can enhance repair of UV-induced DNA damage in cells of ‘Moon children’

The destructive force of UV radiation on DNA molecules is only fully visible, when repair mechanisms fail: patients with the rare genetic disease Xeroderma pigmentosum - also known as 'Moon children' - develop inflammations upon exposure to only small amounts of sunlight, rough-surfaced growths and eventually skin cancer occurs often in early age.

21 Nov 2017

Abnormal eating schedules affect skin’s protection from harmful UV rays of the sun

Sunbathers may want to avoid midnight snacks before catching some rays. A study in mice from the O'Donnell Brain Institute and UC Irvine shows that eating at abnormal times disrupts the biological clock of the skin, including the daytime potency of an enzyme that protects against the sun's harmful ultraviolet radiation.

17 Aug 2017

Scientists identify genetic risk factor for equine squamous cell carcinoma

Squamous cell carcinoma (SCC) is the most common cancer found in equine eyes and the second most common tumor of the horse overall. Thanks to a recent genetic study led by UC Davis, horse owners can now identify horses at risk for ocular SCC and make informed breeding decisions.

25 May 2017

Pitt researchers show how repair protein finds structural errors in DNA

Researchers at the University of Pittsburgh School of Medicine and University of Pittsburgh Cancer Institute have demonstrated how Rad4, a protein involved in DNA repair, scans the DNA in a unique pattern of movement called "constrained motion" to efficiently find structural faults in DNA.

7 Oct 2016

Neurocutaneous disorders affect skin, nervous system

One of the most common genetic disorders is a condition called neurofibromatosis, which causes brown spots on the skin and benign tumors on the brain, spinal cord and other parts of the nervous system.

25 Jan 2016

Hutchinson-Gilford Progeria Syndrome can be compared to normal aging, say scientists

In a new research study, scientists from Vision Genomics, LLC, Insilico Medicine, Inc., and Howard University showed that Hutchinson-Gilford Progeria Syndrome (HGPS or Progeria) is comparable to normal aging with respect to cellular signaling pathways, and that HGPS truly recapitulates the normal aging process.

28 Jan 2015

MIT researchers develop test that can rapidly assess DNA repair systems

Our DNA is under constant attack from many sources, including environmental pollutants, ultraviolet light, and radiation. Fortunately, cells have several major DNA repair systems that can fix this damage, which may lead to cancer and other diseases if not mended.

25 Apr 2014

Researchers discover gene that can cause 3 different diseases depending on its alteration

An international research consortium led by the Universitat Aut-noma de Barcelona (UAB), the CIBERER and the University of Wurzburg (Germany) has discovered a gene that can cause three totally different diseases, depending on how it is altered.

26 Apr 2013

Two researchers receive Brupbacher Prize for Cancer Research 2011

Today, the Charles Rodolphe Brupbacher Prize for Cancer Research 2011 goes to two researchers who have contributed to better understanding of the genetics underlying the growth of tumors.

17 Feb 2011

UNC scientists discover how chaperone enzyme plays a key role in cells' ability to tolerate DNA damage

UNC scientists who study how cells repair damage from environmental factors like sunlight and cigarette smoke have discovered how a "chaperone" enzyme plays a key role in cells' ability to tolerate the DNA damage that leads to cancer and other diseases.

19 Jan 2011