Chromosome News and Research

Latest Chromosome News and Research

Novel Cornelia de Lange syndrome gene discovered

Scientists have discovered that mutations in the histone deacetylase 8 gene can cause the rare genetic disorder known as Cornelia de Lange syndrome, which is characterized by intellectual disability, limb deformity, and other disabilities resulting from problems in early development.

13 Aug 2012

Researchers identify new gene in Cornelia deLange syndrome

Genetics researchers have identified a key gene that, when mutated, causes the rare multisystem disorder Cornelia deLange syndrome (CdLS). By revealing how mutations in the HDAC8 gene disrupt the biology of proteins that control both gene expression and cell division, the research sheds light on this disease, which causes intellectual disability, limb deformations and other disabilities resulting from impairments in early development.

13 Aug 2012

Researchers discover gene mutations linked to spinocerebellar ataxia

A global hunt for the cause of a crippling inherited nerve disorder has found its target. The discovery opens the door for better diagnosis and treatment of this particular disease - but also for better understanding of why nerves in the brain's movement-controlling center die, and how new DNA-mapping techniques can find the causes of other diseases that run in families.

13 Aug 2012

HDAC8 gene mutations cause Cornelia deLange syndrome

13 Aug 2012

Research focuses on evolution of sex and gamete function

The propagation of every animal on the planet is the result of sexual activity between males and females of a given species. But how did things get this way? Why two sexes instead of one? Why are sperm necessary for reproduction and how did they evolve? These as-yet-unresolved issues fascinate Timothy Karr, a developmental geneticist and evolutionary biologist at Arizona State University's Biodesign Institute.

13 Aug 2012

FDA approved drug to treat Ph- acute lymphoblastic leukemia

The U.S. Food and Drug Administration today approved Marqibo (vincristine sulfate liposome injection) to treat adults with a rare type of leukemia called Philadelphia chromosome negative (Ph-) acute lymphoblastic leukemia (ALL). ALL is a rapidly progressing form of blood and bone marrow cancer that is more commonly diagnosed in children than adults.

10 Aug 2012

New class of drugs reduces adverse effects of cellular damage from cancer chemotherapy

Chemotherapy kills tumor cells, but it also wreaks havoc on the rest of the body. A team of researchers led by Igor Roninson of the South Carolina College of Pharmacy just reported the discovery of a new class of drugs that reduces the adverse effects of cellular damage from chemotherapy.

8 Aug 2012

Researchers discover genetic cause of type VII mucopolysaccharidosis in Brazilian Terriers

The genetics research group led by Professor Hannes Lohi, based at the University of Helsinki and the Folkh-lsan Research Center, has, in collaboration with Adjunct Professor Kirsi Sainio's research group, discovered the cause of a life-threatening skeletal disorder affecting Brazilian Terriers. The disease is caused by a mutation in the GUSB gene.

7 Aug 2012

New research center to expedite study of gene transfer approach

In an alliance aimed at bringing a new, personalized immunotherapy approach to patients with a wide variety of cancers, the University of Pennsylvania and Novartis announced today an exclusive global research and licensing agreement to further study and commercialize novel cellular immunotherapies using chimeric antigen receptor (CAR) technologies.

6 Aug 2012

Associate director of Clinical Genetics receives Angelo DiGeorge Medal of Honor

Donna McDonald-McGinn, M.S., CGC, associate director of Clinical Genetics and program director of the "22q and You" Center at The Children's Hospital of Philadelphia, received the Angelo DiGeorge Medal of Honor on July 6 at the 8th Biennial International 22q11.2 DS Conference in Lake Buena Vista, Florida. Ms. McDonald-McGinn, who began her career at CHOP in 1985, is the second person to receive this highly esteemed honor.

6 Aug 2012

Novartis, Penn partner to study and commercialize novel cellular immunotherapies for cancer

6 Aug 2012

Similar molecular pathways involved in intellectual disability due to Fragile X and Down syndromes

Intellectual disability due to Fragile X and Down syndromes involves similar molecular pathways report researchers in The EMBO Journal. The two disorders share disturbances in the molecular events that regulate the way nerve cells develop dendritic spines, the small extensions found on the surface of nerve cells that are crucial for communication in the brain.

3 Aug 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

Three papers focus on nucleosomes and may help uncover the rules governing gene transcription

A trio of groundbreaking publications from researchers in Northwestern University's Physical Sciences-Oncology Center (PS-OC) report important methodological advances that will enable a better understanding of how gene expression is regulated, both in normal cells and in cancer cells. This knowledge could lead to the development of more effective therapeutic agents to treat cancer patients.

2 Aug 2012

Orc1 mutations may explain pathology in manifestations of Meier-Gorlin syndrome

Research published Aug. 1 by scientists at Cold Spring Harbor Laboratory (CSHL) links gene mutations found in some patients with Meier-Gorlin syndrome (MGS) with specific cellular dysfunctions that are thought to give rise to a particularly extreme version of dwarfism, small brain size, and other manifestations of abnormal growth which generally characterize that rare condition.

1 Aug 2012

ARIAD Pharmaceuticals commences ponatinib Phase 3 trial in newly diagnosed CML

ARIAD Pharmaceuticals, Inc. today announced the initiation of the randomized Phase 3 trial of ponatinib, its investigational pan-BCR-ABL inhibitor, in adult patients with newly diagnosed chronic myeloid leukemia (CML).

28 Jul 2012

PedBrain Tumor network publishes evaluation of first 125 genome analyses of medulloblastomas

Brain tumors are the primary cause of cancer mortality in children. Even if a cure is possible, young patients often suffer from the stressful treatment which can be harmful to the developing brain. The most common childhood brain tumors are medulloblastoma and pylocytic astrocytoma.

27 Jul 2012