Genetics

Rare disease PTEN Hamartoma Tumor Syndrome (PHTS) Obtaining the International Classification of Diseases (ICD) code

Rare disease PTEN Hamartoma Tumor Syndrome (PHTS) Obtaining the International Classification of Diseases (ICD) code

CHELTENHAM, England–(BUSINESS WIRE)–PTEN Research Foundation, a charitable organization that funds and facilitates research with the goal of developing new and better treatments for PTEN hamartoma tumor syndrome (PHTS), today announced that the rare genetic disorder, PHTS, has received a new and unique disease code in the International Classification of Diseases Revision 10, Clinical Modification System …

Rare disease PTEN Hamartoma Tumor Syndrome (PHTS) Obtaining the International Classification of Diseases (ICD) code Read More »

Sarah D. 'Sally' Isaacs, who had been coordinator of a long-term prostate gene study project at Johns Hopkins, dies

Sarah D. ‘Sally’ Isaacs, who had been coordinator of a long-term prostate gene study project at Johns Hopkins, dies

Sarah D. “Sally” Isaacs, who had been project coordinator for the prostate gene study at Johns Hopkins University School of Medicine, died Sept. 23 of ovarian cancer at her home in Phoenix. , in northern Baltimore County. She was 72 years old. “For more than 20 years, Sally was the coordinator of the Johns Hopkins …

Sarah D. ‘Sally’ Isaacs, who had been coordinator of a long-term prostate gene study project at Johns Hopkins, dies Read More »

PHOTO GALLERY |  Breast Cancer Awareness |  Goal 'busier': Windber center stresses need for preventive genetic testing

PHOTO GALLERY | Breast Cancer Awareness | Goal ‘busier’: Windber center stresses need for preventive genetic testing

WINDBER, Pa. — Kimberly Knapp estimates the Joyce Murtha Breast Care Center performs 20 genetic tests per month for people looking for signs of hereditary cancer risk, including breast cancer. Knapp, manager of the center’s clinical research site, said she would like to see that number triple. Given current advances in genetic testing, the tests …

PHOTO GALLERY | Breast Cancer Awareness | Goal ‘busier’: Windber center stresses need for preventive genetic testing Read More »

Rare disease PTEN Hamartoma Tumor Syndrome (PHTS) Obtaining the International Classification of Diseases (ICD) code

Rare disease PTEN Hamartoma Tumor Syndrome (PHTS) Obtaining the International Classification of Diseases (ICD) code

The International Classification of Diseases Clinical Modification, Revision 10, Clinical Modification System (ICD-10-CM) will now include PHTS. A unique code for PHTS (Q85.81) will be incorporated into the revision to be released on October 1, 2022. The code will improve patient care and facilitate future clinical, natural history, and epidemiological research. CHELTENHAM, England–(BUSINESS WIRE)–PTEN Research …

Rare disease PTEN Hamartoma Tumor Syndrome (PHTS) Obtaining the International Classification of Diseases (ICD) code Read More »

Cancer Cells Dividing Illustration

Ancestral heritage and cancer: a new connection discovered

The study also identified a new taxonomy of prostate cancer. Two groundbreaking studies recently published in journals Nature and Genome medicine found genetic signatures that explain ethnic disparities in prostate cancer severity, particularly in sub-Saharan Africa. By genetically analyzing prostate cancer tumors from Australian, Brazilian and South African donors, the team has developed a new …

Ancestral heritage and cancer: a new connection discovered Read More »

Nationwide screening leads to more Fabry diagnoses in the Czech Republic...

Nationwide screening leads to more Fabry diagnoses in the Czech Republic…

Implementing nationwide screening programs for Fabry disease in people with a heart condition called hypertrophic cardiomyopathy (HCM) can help improve diagnosis of the disease, a study in the Czech Republic has found. In the country, the program led to the diagnosis of Fabry in four men and two women among the 589 HCM patients screened. …

Nationwide screening leads to more Fabry diagnoses in the Czech Republic… Read More »

Magel2 gene activity study reveals potential treatment for PWS...

Magel2 gene activity study reveals potential treatment for PWS…

Reduced activity of the Magel2 The gene, which is defective in Prader-Willi syndrome (PWS), specifically in the nerve cells that supply the brain’s amygdala, reduced susceptibility to diet-induced weight gain by increasing activity physical. The researchers noted that these unexpected results from a mouse study could provide a new therapeutic strategy to treat excess body …

Magel2 gene activity study reveals potential treatment for PWS… Read More »

Scientists sequence world's largest pangenome to help unlock genetic mysteries behind finer silk

Scientists sequence world’s largest pangenome to help unlock genetic mysteries behind finer silk

Phenotypic diversity in silkworms. Credit: BGI Genomics BGI Genomics, in collaboration with Southwest University, the State Key Laboratory of Silkworm Genome Biology and other partners, has constructed a high-resolution pan-genome dataset representing nearly all of a silkworm’s genomic content. This research paper, providing genetic information on artificial selection (domestication and breeding) and ecological adaptation, was …

Scientists sequence world’s largest pangenome to help unlock genetic mysteries behind finer silk Read More »

Study: Maternal stress in the postpartum period is associated with altered human milk fatty acid composition. Image Credit: Ko Poom/Shutterstock

Does maternal psychological and biological stress affect the composition of human breast milk?

In a recent study published in Clinical Nutritionresearchers investigated the influence of postpartum biological and psychological maternal stress on the fatty acid composition of breast milk through a prospective cohort study in Amsterdam. Study: Maternal stress during the postpartum period is associated with a change in the fatty acid composition of breast milk. Image Credit: …

Does maternal psychological and biological stress affect the composition of human breast milk? Read More »