Ataxia Telangiectasia News and Research

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Ataxia-telangiectasia (A-T) is a primary immunodeficiency disease which affects a number of different organs in the body. An immunodeficiency disease is one that causes the immune system to break down, making the body susceptible to diseases. It is a rare, recessive genetic disorder of childhood that occurs in between 1 out of 40,000 and 1 out of 100,000 persons worldwide. The ailment is progressive. Patients with A-T are frequently wheelchair-bound by their teens, and the disease is generally fatal to patients by the time they reach their twenties.

Genetic testing finds breast cancer risks that standard screening models miss

Population-based pathogenic variant testing identified breast cancer susceptibility gene carriers who would often be missed by clinical risk models, even when polygenic risk scores were added. In the WISDOM Study analysis, fewer than 1% of high-penetrance variant carriers would have received the same high-risk screening recommendation using clinical plus polygenic risk alone.

1 Jun 2026

MD Anderson researchers present promising clinical trial results at AACR 2025

Researchers from The University of Texas MD Anderson Cancer Center will present promising results from clinical trials in three minisymposia abstracts at the American Association for Cancer Research (AACR) Annual Meeting 2025.

26 Apr 2025

Review of fasting-mimicking diets in cancer treatment

Researchers present the role of cyclic fasting and fasting-mimicking diets (FMD) in cancer therapy.

8 Aug 2024

Combo of targeted and immunotherapy may boost NSCLC treatment by overcoming immune resistance and enhancing anti-tumor activity

Researchers evaluated rational combination treatment regimens for advanced/metastatic non-small-cell lung cancer (NSCLC).

15 Feb 2024

Study sheds light on specific variants responsible for rare and serious disorder

Many disorders are caused by genetic variants; to make matters worse, the genetic origin of most disorders remains unknown.

15 Nov 2023

How chromatin compartmentalization affects DNA damage response

Researchers uncover novel insights into how chromatin compartmentalization influences the DNA damage response (DDR) after double-stranded breaks (DSBs), shedding light on the mechanisms behind genomic integrity maintenance and the risk of translocations. Their findings reveal the importance of chromosomal design in DNA repair and the potential implications for genome stability and cancer translocations.

22 Oct 2023

Groundbreaking discovery reveals how brain proteins can help alleviate DNA replication stress

A team of researchers from the Department of Biological Sciences at UNIST has achieved a significant breakthrough in understanding how brain proteins can help alleviate complications arising from DNA replication stress.

12 Sep 2023

Study shows SARS-CoV-2 causes DNA damage and elicits an altered DNA damage response

Researchers assessed the association between SARS-CoV-2 infection and DNA damage and cellular senescence.

14 Mar 2023

SARS-CoV-2 WA1/2020, Delta and Omicron strains found to infect human sensory neurons

Researchers evaluated the impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) on the peripheral nervous system (PNS).

13 Jan 2023

Vitamin D can help the immune system fight tuberculosis, study says

Most people probably associate tuberculosis with a leaky loft in 20th-century Paris. But as a matter of fact, tuberculosis is not ancient history.

6 Jan 2023

The role of oxidative stress in congenital syndromes

Researchers discuss the role of oxidative stress in genetic conditions.

10 Oct 2022

Research identifies unique vulnerabilities in ALT cancers that can serve as novel therapeutic targets

In a study recently published in Cancer Research, a journal of the American Association for Cancer Research, a team of researchers led by C. Patrick Reynolds, M.D., Ph.D., director for the Texas Tech University Health Sciences Center School of Medicine Cancer Center, sought to expand upon his lab's previous research that showed ALT tumors identified by a biomarker known as C-circles share a common biology that confers vulnerabilities to be exploited for cancer therapy.

10 Aug 2022

The known and proposed interactions of SARS-CoV and SARS-CoV-2 with DNA damage response pathways

Researchers reviewed the consequences of infection with sSARS-CoVs on the host DNA damage response.

19 Jul 2022

The potential mechanisms of SARS-CoV-2 to induce DNA damage

Researchers described potential mechanisms of coronaviruses that could lead to DNA damage and the potential link between SARS-CoV-2 activity and such mechanisms.

14 Jun 2022

Research describes how DNA damage can affect neural health and function

A new research paper in the journal EMBO Reports describes how DNA damage can affect neural health and function.

12 May 2022

New tactic to disrupt cancer repair mechanism could lead to a potential treatment strategy

While cancer therapies targeting specific genes or disease pathways have extended lives, they can also lead to highly resistant tumors when small reservoirs of cancer cells survive treatment, grow, and spread.

30 Mar 2022

SARS-CoV-2 may have consequences to host cells beyond evoking an immune response

A recent study examined the ability of SARS-CoV-2 to impact DNA damage response and telomere stability in Vero E6 cells.

13 Sep 2021

Adding berzosertib to standard treatment for metastatic urothelial cancer does not extend patient survival

A Phase 2 trial led by City of Hope, a world-renowned research and treatment center for cancer and diabetes, suggests that adding the novel ataxia telangiectasia and Rad3-related (ATR) inhibitor drug berzosertib to standard-of-care chemotherapy for patients with metastatic urothelial cancer does not extend progression-free survival.

27 Aug 2021

Study: Pleotropic drugs can have both favorable and unfavorable effects on cell growth, survival

The cover for issue 37 of Oncotarget features Figure 7, "The combination of romidepsin and KU60019 is synergistic in a xenograft model of MCL," by Scotto, et al. which reported that the antiproliferative effect induced by histone deactylase inhibitors is associated with the up-regulated expression of the cyclin-dependent kinase inhibitor p21.

17 Sep 2020

DNA topological problems may cause lymphoma, study shows

Researchers from the Spanish National Cancer Research Centre, Madrid, and the Andalusian Molecular Biology and Regenerative Medicine Centre, Seville, published today a paper in Nature Communications that shows that DNA topological problems may cause endogenous DNA breaks that have a causal relationship with cancer.

24 Feb 2020