Genetic epidemiology

HER Foundation's Dr. Marlena Fejzo Was Named to TIME's Annual Women of the Year List, Recognizing Extraordinary Leaders Fighting for a More Equal World

Retrieved on: 
Tuesday, March 12, 2024

PORTLAND, Ore., March 12, 2024 /PRNewswire/ -- TIME named Dr. Marlena Fejzo to its annual TIME Women of the Year list, recognizing extraordinary leaders fighting for a more equal world.

Key Points: 
  • PORTLAND, Ore., March 12, 2024 /PRNewswire/ -- TIME named Dr. Marlena Fejzo to its annual TIME Women of the Year list, recognizing extraordinary leaders fighting for a more equal world.
  • "I am truly honored to be recognized for my research on hyperemesis gravidarum (HG).
  • Dr. Fejzo will be presenting her research at the International Colloquium on Hyperemesis Gravidarum in Ventura (LA), California on November 6-7, 2024.
  • HER Foundation offers innovative clinical resources that improve the care and outcomes of those suffering from HG.

NGM Bio Announces New Clinical Data from Ongoing Trial of NGM707 in Advanced Solid Tumors and Outlines Evolved Strategy for Aldafermin and NGM120 to Focus on Rare Conditions with Significant Unmet Need

Retrieved on: 
Tuesday, January 9, 2024

NGM Bio also outlined its strategy to evolve clinical development of its product candidates aldafermin and NGM120 to focus on rare conditions characterized by significant unmet need.

Key Points: 
  • NGM Bio also outlined its strategy to evolve clinical development of its product candidates aldafermin and NGM120 to focus on rare conditions characterized by significant unmet need.
  • Recent landmark genetic research confirmed the link between this rare, devastating condition experienced during pregnancy to higher levels of GDF15.
  • Given our deep expertise in GDF15 biology, we believe we are well positioned to potentially pursue this indication for NGM120.
  • NGM Bio previously reported data from a randomized, double-blind, placebo-controlled Phase 2 study of aldafermin for the treatment of PSC.

MyOme Presents New Data: Improved 10-year Risk Prediction of Coronary Artery Disease through Polygenic Risk Scores Integrated with Clinical Factors Showcased at the American Society of Human Genetics Annual Meeting

Retrieved on: 
Thursday, November 2, 2023

MENLO PARK, Calif., Nov. 2, 2023 /PRNewswire/ -- MyOme, Inc., a pioneering clinical whole genome platform analysis company specializing in polygenic risk scores, will present data during the 2023 American Society of Human Genetics (ASHG) Annual Meeting taking place from November 1-5, 2023 in Washington, DC. The focus will be on the integrated polygenic risk score, caIRS, which combines genetics with traditional clinical risk factors to improve the identification of high-risk individuals for coronary artery disease (CAD) across diverse populations.

Key Points: 
  • The focus will be on the integrated polygenic risk score, caIRS, which combines genetics with traditional clinical risk factors to improve the identification of high-risk individuals for coronary artery disease (CAD) across diverse populations.
  • Traditionally, most CAD risk assessment tools and tests have been validated on a relatively narrow population.
  • Polygenic risk scores (PRS), which aggregate millions of genetic variants of small effect size into a single score, offer the potential to improve the accuracy of clinical risk assessment tools.
  • MyOme has developed and validated an integrated risk score that combines a cross-ancestry PRS with the PCE (caIRS).

PROSTATE CANCER FOUNDATION-FUNDED GENETIC STUDY OF MEN OF AFRICAN ANCESTRY FINDS NEW RISK FACTORS FOR PROSTATE CANCER

Retrieved on: 
Friday, March 3, 2023

LOS ANGELES, March 3, 2023 /PRNewswire/ -- One in six Black men in the United States will be diagnosed with prostate cancer in his lifetime versus one in eight white men. Black men are more likely to be diagnosed at a younger age, with more aggressive disease, and are more than twice as likely to die of prostate cancer. New findings from Prostate Cancer Foundation (PCF)-funded investigators shed light on the genetic underpinnings of this racial disparity and point the way toward more effective screening strategies.

Key Points: 
  • Studies have identified close to 270 genetic variants linked to prostate cancer risk, but genetic researchers have yet to explain the disproportionate risk among men of African ancestry.
  • Nor have they been able to predict which Black men face a high risk for aggressive prostate cancer.
  • The researchers found nine previously undiscovered genetic variants that increased the risk for prostate cancer in men of African ancestry, seven of which are found either largely or exclusively in Black men.
  • One new variant in the 8q24 region, long known to influence prostate cancer risk, is found only in men of African ancestry.

Genomic transposable elements modify the progression of Parkinson's disease

Retrieved on: 
Tuesday, November 8, 2022

This study, led by Dr. Koks, analyzed the variation of transposable elements and their impact on different trajectories of Parkinson's disease.

Key Points: 
  • This study, led by Dr. Koks, analyzed the variation of transposable elements and their impact on different trajectories of Parkinson's disease.
  • This allowed them to develop a comprehensive genomic screen for the transposable elements in these patients.
  • Some transposable elements predicted faster progression of the disease, with very fast deterioration of motor or cognitive functions.
  • At the same time, some transposable elements were protective and associated with a slower disease progression suggesting a slowing of neuronal loss and neurodegeneration.

Foresite Labs Appoints Mary Helen Black, Former Johnson & Johnson Department Head, to Vice President and Head of Human Genomics

Retrieved on: 
Tuesday, October 18, 2022

Today, Foresite Labs is pleased to announce the appointment of Mary Helen Black as its new vice president and head of genomics.

Key Points: 
  • Today, Foresite Labs is pleased to announce the appointment of Mary Helen Black as its new vice president and head of genomics.
  • Created in 2019, Foresite Labs mission is to found, build and scale life sciences initiatives at the intersection of healthcare and data science.
  • Prior to joining Foresite Labs, Black was the head of Population Analytics, Computational Sciences, at The Janssen Pharmaceutical Companies of Johnson & Johnson.
  • "After conducting genomics research for nearly two decades spanning academic, health care, clinical diagnostics, and pharmaceutical industries, Im excited to bring this experience to Foresite Labs," said Mary Helen Black.

RSNA: Smaller Lung Airways May Increase COPD Risk in Women

Retrieved on: 
Tuesday, August 2, 2022

OAK BROOK, Ill., Aug. 2, 2022 /PRNewswire-PRWeb/ -- Structural differences in lung airways between men and woman may be the cause of differences in chronic obstructive pulmonary disease (COPD) prevalence and outcomes between the sexes. According to a large, multicenter study published in the journal Radiology, researchers found that even among adults who have never smoked, or who have smoked less than 100 cigarettes in their lifetime, lung airways were smaller in women, which can lead to a higher risk for lung disease.

Key Points: 
  • According to a large, multicenter study published in the journal Radiology, researchers found that even among adults who have never smoked, or who have smoked less than 100 cigarettes in their lifetime, lung airways were smaller in women, which can lead to a higher risk for lung disease.
  • According to a large, multicenter study published in the journal Radiology , researchers found that even among adults who have never smoked, or who have smoked less than 100 cigarettes in their lifetime, lung airways were smaller in women, which can lead to a higher risk for lung disease.
  • "When airways narrow due to cigarette smoking, the impact on symptoms and survival is greater in women than in men."
  • The assumption that women have smaller airways is based on comparisons of the trachea and main stem bronchi, but few studies have compared distal airways in normal individuals or accounted for differences in lung size.

Cancer Genetics Expert Dr. Kelly Bolton Appointed to GoodCell’s Scientific Advisory Board

Retrieved on: 
Monday, July 25, 2022

Waltham, MA, July 25, 2022 (GLOBE NEWSWIRE) -- GoodCell , a Harvard Stem Cell Institute company, today appointed Kelly Bolton M.D., Ph.D., M.Phil., to its scientific advisory board.

Key Points: 
  • Waltham, MA, July 25, 2022 (GLOBE NEWSWIRE) -- GoodCell , a Harvard Stem Cell Institute company, today appointed Kelly Bolton M.D., Ph.D., M.Phil., to its scientific advisory board.
  • GoodCells investigative work in the area of acquired genetics is of particular interest to me, said Dr. Bolton.
  • Dr. Bolton received her Medical Degree from the David Geffen School of Medicine at UCLA and her Ph.D. in Genetic Epidemiology at the University of Cambridge.
  • We are honored to have Dr. Bolton join our esteemed team of advisors, said Chris Garcia, Chief Executive Officer, GoodCell.

'Massively Parallel' Gene Screening Tool Can Accelerate Research for Nearly Any Disease

Retrieved on: 
Friday, March 12, 2021

Up to300,000 peoplein theU.S.have lupus, and the disease causes or contributes toas many as2,000 deaths a year, according to the U.S.Centers for Disease Control and Prevention.

Key Points: 
  • Up to300,000 peoplein theU.S.have lupus, and the disease causes or contributes toas many as2,000 deaths a year, according to the U.S.Centers for Disease Control and Prevention.
  • Longer-term, the successful development of massively parallel gene screening has potential application for finding the genetic connections to virtually any disease.
  • Here's how:
    For nearly two decades, scientists have been using genome-wide association studies(GWAS) to uncover largesetsof clues about gene variations that might be causing a disease.
  • Crucially, the same screening process can be used tosiftsuspected gene association for nearly any complex disease.

Bionano Publishes Method for Identifying Genes Likely to Cause Neurological Diseases Based on a Model Developed by Lineagen to Improve Interpretation of Variants of Unknown Significance

Retrieved on: 
Monday, February 22, 2021

The resulting list of high scoring genes enhances Lineagens clinical interpretation capabilities allowing their genetic counsellors to better interpret variants of unknown significance (VUS), which can improve diagnostic abilities and provide for more precise counseling to patients and families.

Key Points: 
  • The resulting list of high scoring genes enhances Lineagens clinical interpretation capabilities allowing their genetic counsellors to better interpret variants of unknown significance (VUS), which can improve diagnostic abilities and provide for more precise counseling to patients and families.
  • The gene scoring model can also be integrated into Bionanos analysis software for Saphyr data, allowing scientists and clinicians to quickly identify and filter structural variants based on their increased risk of causing CNS diseases.
  • Armed with NeuroSCORE, scientists could discover novel genes not previously associated with CNS diseases, potentially enabling clinicians to more accurately diagnose patients with previously uncharacterized neurodevelopmental disease.
  • Despite this progress, many thousands of genes are poorly characterized and their function unknown.