Chromosome News and Research

Latest Chromosome News and Research

Researchers reveal molecular cause for severe multi-organ disorder

Three unrelated families on three continents (from continental Portugal, the United States and Brazil), all with healthy ancestors, had children with a very rare disease.

18 Jul 2019

BU professor awarded NIH grant to study Down syndrome

Tarik F. Haydar, PhD, professor of anatomy and neurobiology at Boston University School of Medicine, has been awarded a two-year Exploratory/Developmental Research Grant Award (R21) from the National Institutes of Health.

16 Jul 2019

Exciting study shows how centrioles center the process of cell division

All life on earth depends upon the process of mitosis or cell division in which the chromosomal content of a cell is equally divided between two new cells.

12 Jul 2019

Research reveals genetic cause of deadly digestive disease in children

Nearly 10 years ago, a group of Israeli clinical researchers emailed Lawrence Berkeley National Laboratory (Berkeley Lab) geneticist Len Pennacchio to ask for his team's help in solving the mystery of a rare inherited disease that caused extreme, and sometimes fatal, chronic diarrhea in children.

11 Jul 2019

Researchers pinpoint treatment target for rare liver cancer in adolescents, young adults

New findings show how a genetically aberrant, fused protein promotes a rare form of liver cancer in adolescents and young adults. The researchers also saw that a certain mix of drugs could target the fused protein and the enzymes that it recruits.

10 Jul 2019

Targeted treatment offers symptom relief for patients with psychosis

Treatment for individuals who experience psychosis, such as hallucinations and delusions as a result of a psychiatric illness, can be targeted to a specific structural mutation, according to a study published by researchers from McLean Hospital and other institutions in the journal Biological Psychiatry.

3 Jul 2019

New study could change our understanding of how stem cells differentiate

A pioneering new study led by Florida State University biologists could fundamentally change our understanding of how embryonic stem cells differentiate into specific cell types.

24 Jun 2019

New mutation discovered in the leptin gene

The global obesity epidemic is so far-reaching it now has an overarching name: globesity. Texas Biomed Staff Scientist Raul Bastarrachea, M.D., is part of a team that discovered a new mutation in the gene that regulates the key hormone suppressing hunger called leptin.

22 Jun 2019

New genetic marker linked to higher risk of premenopausal breast cancer

University of Alberta researchers have added a new genetic marker to the breast cancer map, helping to expand the list of genetic mutations clinicians can watch for in cancer screenings.

20 Jun 2019

Study links high number of copies of chromosomal region to chemotherapeutic drug resistance

Researchers at the Bellvitge Biomedical Research Institute, with the participation of collaborators from the Baylor College of Medicine and the University Institute of Oncology of Asturias, publish today in Cancer Research a study where they relate the high number of copies of a chromosomal region with the appearance of resistance to a chemotherapeutic drug.

19 Jun 2019

Study uncovers potential modifier genes in patients with Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease is the most common inherited neurological disorder affecting peripheral motor and/or sensory nerves in humans.

18 Jun 2019

Research opens up new avenues for understanding the causes of schizophrenia

Schizophrenia causes hallucinations and memory or cognition problems inter alia. This psychiatric illness affects 0.5% of the general population, and it may be related to genetic abnormalities of chromosome 22, known as 22q11 deletion syndrome.

17 Jun 2019

Researchers find salmonella resistant to antibiotics of last resort in the U.S.

Researchers from North Carolina State University have found a gene that gives Salmonella resistance to antibiotics of last resort in a sample taken from a human patient in the U.S. The find is the first evidence that the gene mcr-3.1 has made its way into the U.S. from Asia.

13 Jun 2019

Researchers identify new sarcoma familial risk gene

A team of WA researchers has uncovered new genes that could play an important role in the development of sarcoma, a group of rare bone, muscle and connective tissue cancers.

12 Jun 2019

Researchers identify genetic factor linked to development of diabetic peripheral neuropathy

Researchers from Joslin Diabetes Center, using a genome-wide association study, have identified a genetic factor linked to the development of diabetic peripheral neuropathy.

12 Jun 2019

Rettsyndrome.org funds research that will benefit boys and girls with MECP2-related disorders

Rettsyndrome.org announced their funding of two new research projects today. Jeannie T. Lee, MD, Ph.D. of Massachusetts General Hospital is awarded a two-year ANGEL Grant for $600,000 to focus on reactivating the silent X chromosome for Rett syndrome and Davut Pehlivan, MDof Baylor College of Medicine is awarded a two-year Mentored Clinical Fellowship for $250,000 to study MECP2 Duplication syndrome.

6 Jun 2019

Study clarifies how 3D organization of genome is regulated at onset of skeletal muscle formation

A new study from the University of Minnesota Medical School clarifies how the three-dimensional organization of the genome is regulated at the onset of skeletal muscle formation.

25 May 2019

Research sheds new light on the function of frequently mutated cancer protein

New research from The Wistar Institute sheds light on the function of the ARID1A protein, encoded by a gene that is among the most frequently mutated across human cancers.

24 May 2019

Novel program that provides comprehensive care for Turner syndrome earns national recognition

A novel program designed to provide comprehensive care for Turner syndrome at The University of Texas Health Science Center at Houston and UT Physicians is one of the first in the U.S. to be designated an adult clinic by the Turner Syndrome Global Alliance.

24 May 2019

Rutgers-led study pinpoints key gene linked to impaired memory in Down syndrome

Targeting a key gene before birth could someday help lead to a treatment for Down syndrome by reversing abnormal embryonic brain development and improving cognitive function after birth, according to a Rutgers-led study.

24 May 2019