UC Irvine-led research team builds first tandem repeat expansions genetic reference maps

A research team led by the University of California, Irvine has built the first genetic reference maps for short lengths of DNA repeated multiple times which are known to cause more than 50 lethal human diseases, including amyotrophic lateral sclerosis, Huntington’s disease and multiple cancers.

Movement of crops, animals played a key role in domestication

Over the last 15 years, archaeologists have challenged outdated ideas about humans controlling nature. Writing in the Proceedings of the National Academy of Sciences, Xinyi Liu in Arts & Sciences at Washington University in St. Louis argues for a new conceptual bridge connecting the science of biological domestication to early food globalization.

Lab-grown liver organoid to speed up turtle research, making useful traits easier to harness

A team of Iowa State University researchers developed protocols for growing organoids that mimic a turtle liver, the first organoids developed for a turtle and only the second for any reptile. The discovery will aid deeper study of turtle genetics, including the cause of traits with potential medical applications for humans such as the ability to survive weeks without oxygen.

Families living with Noonan Syndrome call for more social support and medical awareness

A survey of more than 60 families living with Noonan Syndrome has highlighted the need for more social support and medical awareness.
Noonan Syndrome, though classed as a ‘rare’ genetic condition, is estimated to affect between 1 in 2000 to 1 in 2500 births in the UK, causing diverse health issues.
The findings of the collaborative study between Loughborough University and the Noonan Association Syndrome are being shared as part of a month-long awareness campaign.
One of the key survey findings is that there is a lack of awareness of the rare genetic condition – even among medical professionals, which can lead to difficulties in accessing care.
Another theme that emerged is that the social and emotional impacts of living with Noonan Syndrome are overlooked for individuals and carers.
The researchers and charity are now calling for greater awareness, research, and support systems.
Individuals and families – including Ian Legg, the Fay family, and Andrea Reid-Kelly – are sharing t

Weedy rice gets competitive boost from its wild neighbors

Weedy rice is an agricultural pest with a global economic impact. It is an aggressive weed that outcompetes cultivated rice and causes billions of dollars in yield losses worldwide. A study from Washington University in St. Louis offers new insights into genetic changes that give weedy rice its edge over cultivated rice in tropical regions of the world.

Researchers Show SARS-Cov-2 Infection Affects Energy Stores in the Body, Causing Organ Failure

An international research team, including Jonathan C. Schisler, PhD, in the UNC School of Medicine, has found how SARS-CoV-2 causes widespread “energy outages” throughout major organs, and how these effects contribute to debilitating long COVID symptoms.

Jean-Laurent Casanova is Recipient of 2023 Maria I. New International Prize for Biomedical Research

The Icahn School of Medicine at Mount Sinai will award its 2023 Maria I. New International Prize for Biomedical Research to Jean-Laurent Casanova, MD, PhD, for revolutionizing our understanding of human infectious diseases through the discovery of genetic and immunological determinants that underpin both rare and common infectious illnesses. The prize honors medical pioneers in the tradition of Maria I. New, MD, a world-renowned researcher in pediatric genetic disorders with a special focus on endocrinology over her six-decade career. Dr. Casanova will receive a prize of $20,000 and will present the Maria I. New Distinguished Lecture during a ceremony to be held in at Icahn Mount Sinai in New York City on November 21, 2023.

Holy immunity! Bat genes key against COVID, cancer

Bats have acquired remarkable traits throughout their evolution. They’re the only mammals that can fly, and they live much longer than other animals their size. But perhaps most impressive is their robust immune system. It protects bats from viruses that wreak havoc in humans, like COVID-19 or Ebola. It also keeps bats relatively cancer-free. How? According to Cold Spring Harbor Laboratory (CSHL) scientists, it’s all in the genes.

Protein p53 regulates learning, memory, sociability in mice

Researchers at the Beckman Institute for Advanced Science and Technology have established the protein p53 as critical for regulating sociability, repetitive behavior, and hippocampus-related learning and memory in mice, illuminating the relationship between the protein-coding gene TP53 and neurodevelopmental and psychiatric disorders.

Ohio State researchers publish national guidelines for ALS genetic testing, counseling

Researchers at The Ohio State University Wexner Medical Center and led the creation of evidence-based consensus guidelines for genetic testing and counseling for patients with amyotrophic lateral sclerosis (ALS), a neurodegenerative disease that affects the cells in the brain and spine.

Green Genetic Engineering: Making Mendel’s Dream Come True with Molecular Scissors

Molecular biologist Professor Holger Puchta from Karlsruhe Institute of Technology (KIT) is granted funding within a Reinhart Koselleck Project by the German Research Foundation (DFG) for work on specific restructuring of plant genomes. Puchta, a pioneer of green genetic engineering,…

Historical DNA Study Connects Living People to Enslaved and Free African Americans at Early Ironworks

A first-of-its-kind analysis of historical DNA ties tens of thousands of living people to enslaved and free African Americans who labored at an iron forge in Maryland known as Catoctin Furnace soon after the founding of the United States.

The study, spurred by groups seeking to restore ancestry knowledge to African American communities, provides a new way to complement genealogical, historical, bioarchaeological, and biochemical efforts to reconstruct the life histories of people omitted from written records and identify their present-day relatives.

NIH funds study of ultrasound with genetics to treat brain disorders

Researchers have developed methods to study and manipulate areas of the brain, though many of those methods are restricted by the limited depth that light can reach within the brain. A multidisciplinary team at Washington University in St. Louis plans to overcome that limitation by integrating ultrasound with genetics to precisely modify neurons in the brain.

Faster progression of multiple sclerosis associated with newly identified genetic variant

In a new study of more than 22,000 people with multiple sclerosis (MS), an international team identified for the first time a genetic variant associated with faster progression of the disease and accumulation of disability. Despite the development of effective…

Novel Gene Therapy Proving Safe and Successful in Sickle Cell Patients Treated at Cleveland Clinic Children’s

Researchers presenting preliminary data from a clinical trial aimed at discovering a cure for sickle cell disease reveal positive results among its first patients. Sickle cell disease, a genetic blood disorder, is a painful and debilitating condition for which there are few approved therapies.

Penn Medicine at the American Society of Gene and Cell Therapy 26th Annual Meeting

Researchers from the Gene Therapy Program (GTP) at the Perelman School of Medicine at the University of Pennsylvania will present nine abstracts highlighting their translational science and discovery research on gene therapy, gene editing, and adeno-associated virus (AAV) vector technology at the American Society of Cell and Gene Therapy (ASGCT) 26th Annual Meeting on May 16–20, 2023 in Los Angeles, California.

Cleveland Clinic Rare Disease Center Recognized as a National Center of Excellence by National Organization for Rare Disorders

Cleveland Clinic has been designated a Rare Disease Center of Excellence by the National Organization for Rare Disorders (NORD). The new Cleveland Clinic Center for Rare Diseases is one of 40 U.S. academic medical centers selected to join the first-of-it-kind national network dedicated to diagnosing, treating and researching all rare diseases.

Stay CALM when the heart skips a beat

A new CALM mutation causes lethal arrhythmia in humans. Using cardiomyocytes — or heart muscle cells — from human iPS cell and recombinant calmodulin proteins, the group studied catecholaminergic polymorphic ventricular tachycardia — or CPVT, a rare and life-threatening genetic condition. The team was able to reproduce severe arrhythmia in patient-derived iPS cell models of exercise-induced CPVT with calmodulin mutations.