Dyskeratosis Congenita News and Research

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Dyskeratosis congenita (DKC), also called Zinsser-Cole-Engman syndrome, is a rare progressive congenital disorder which results in premature aging similar to what is seen in progeria. The disease mainly affects the integumentary system with a major consequence being anomalies of the bone marrow.

ASU scientists discover an unusual RNA biogenesis pathway

For the very first time, a study led by Julian Chen and his group in Arizona State University's School of Molecular Sciences and the Biodesign Institute's Center for the Mechanism of Evolution, has discovered an unprecedented pathway producing telomerase RNA from a protein-coding messenger RNA (mRNA).

3 Oct 2022

Repeated injury to the epithelial tissue of airways causes "biological aging" of stem cells

Are prematurely aged or overworked stem cells a significant factor in chronic lung disease? Findings of a study just released in STEM CELLS Translational Medicine (SCTM) say this is likely so.

22 Sep 2021

New study may offer a breakthrough in treating telomere diseases

Capping decades of research, a new study may offer a breakthrough in treating dyskeratosis congenita and other so-called telomere diseases, in which cells age prematurely.

21 Apr 2020

Rapamycin worsens diseases and premature aging in mice with short telomeres

In the past few decades, it was discovered that the rate at which we age is strongly influenced by biochemical processes that, at least in animal models, can be controlled in the laboratory.

3 Mar 2020

ASU researchers uncover crucial step in telomerase enzyme catalytic cycle

Can we stay young forever, or even recapture lost youth? Research from the laboratory of Professor Julian Chen in the School of Molecular Sciences at Arizona State University recently uncovered a crucial step in the telomerase enzyme catalytic cycle.

27 Feb 2018

Gene editing technology shines light on rare dyskeratosis congenita

Using the gene editing technology CRISPR, scientists have shed light on a rare, sometimes fatal syndrome that causes children to gradually lose the ability to manufacture vital blood cells.

27 Jul 2017

Penn researchers uncover strategy to reverse effects of dyskeratosis congenita

Dyskeratosis congenita, or DC, is a rare, inherited disease for which there are limited treatment options and no cure.

18 Aug 2016

Study stresses importance of investigating telomeres to improve diagnoses, develop treatments for many diseases

Studying telomeres, the structures that protect the ends of chromosomes, has become a key issue in biology. In recent years, not only has their relation to ageing been confirmed; defective telomeres seem to be linked to more and more illnesses, including many types of cancer.

16 Jul 2015

Researchers report promising outcomes from clinical trial in patients with dyskeratosis congenita

Researchers at Dana-Farber/Boston Children's Cancer and Blood Disorders Center report promising outcomes from a clinical trial with patients with a rare form of bone marrow failure who received a hematopoietic stem cell transplant (HSCT) after pre-treatment with immunosuppressive drugs only. This is the first trial reporting successful transplant in dyskeratosis congenita (DC) patients without the use of any radiation or conventional cytotoxic chemotherapy beforehand.

8 Dec 2014

CHOP researchers advance stem cell studies in childhood leukemia, Diamond Blackfan anemia

First produced only in the past decade, human induced pluripotent stem cells are capable of developing into many or even all human cell types. In new research, scientists reprogrammed skin cells from patients with rare blood disorders into iPSCs, highlighting the great promise of these cells in advancing understanding of those challenging diseases-and eventually in treating them.

31 Jul 2013

New nanodevice lays foundations for future development of novel therapies against aging

A team of Spanish scientists has developed an intelligent nanodevice that lays the foundations for the future development of new therapies against aging. The device consists of nanoparticles that can selectively release drugs in aged human cells.

4 Oct 2012

Researchers identify how telomerase is recruited to chromosome ends

Stem cells are special. Nestled in muscle and skin, organ and bone, they bide their time over years or decades until called to replace damaged or lost tissue. One secret to their longevity is an enzyme called telomerase, which stills the relentless ticking of the molecular clock that limits the life span of other cells.

3 Aug 2012

UAB first in U.S. with cell-processing workstation

The University of Alabama at Birmingham has taken a significant step toward making sophisticated cell therapy a part of patient care with its acquisition of the first cell-processing workstation (CPWS) from SANYO North America Corporation (SANYO) in the United States.

8 Jun 2011

Scientists mimic dyskeratosis congenita through study of undifferentiated iPS cells

A rare genetic disease called dyskeratosis congenita, caused by the rapid shortening of telomeres, can be mimicked through the study of undifferentiated induced pluripotent stem cells, according to new findings from the Stanford University School of Medicine.

24 May 2011

Study: Short telomeres may predispose people to age-related diabetes

New evidence has emerged from studies in mice that short telomeres or "caps" at the ends of chromosomes may predispose people to age-related diabetes, according to Johns Hopkins scientists.

25 Mar 2011

DNA "end-caps" length linked to diabetes risk: New role for short telomeres

New evidence has emerged from studies in mice that short telomeres or “caps” at the ends of chromosomes may predispose people to age-related diabetes, according to Johns Hopkins scientists.

24 Mar 2011

Dr. Bessler joins Children's Hospital of Philadelphia

One of the world's leading experts in bone marrow failure and related blood disorders recently joined The Children's Hospital of Philadelphia. Hematology researcher Monica Bessler, M.D., Ph.D., arrived at the hospital this summer to establish a new program, the Pediatric and Adult Comprehensive Bone Marrow Failure Center.

5 Oct 2010

DKC establishes link between genetic mutation affecting telomerase function and human disease

The human genetic disease dyskeratosis congenita (DKC) is an autosomal dominant disease that leads to abnormalities in tissues with a rapid cell turnover - the skin, nails, bone marrow, lungs and gut. Patients with DKC experience life-threatening symptoms. Bone marrow failure increases their risk of fatal infections and cancer. Many die before the age of 30 and management of the disease is limited to trying to treat its symptoms.

19 Oct 2009

Researchers identify key step in maturation pathway of telomerase

The Stowers Institute's Baumann Lab has discovered an important step in the maturation pathway of telomerase, the enzyme that replenishes the sequences that are lost at chromosome ends with every cell division.

8 Dec 2008

Eroded telomeres are behind dyskeratosis congentia aging syndrome

Each time a cell divides, the protective caps at the ends of chromosomes shorten - and when these caps are gone, so are we. Now, by using an unconventional strategy to shorten telomeres in mice, researchers at Rockefeller University have not only created the first faithful mouse model for studying a rare yet fatal premature aging syndrome, but they have revealed the molecular defect behind the disease.

30 Jul 2008