International Genetics and Genomics of Diseases

UNC Fast-Tracks Personalized Treatment for Twins with Ultra Rare Genetic Disorder In May 2022, Yael Shiloh-Malawsky, MD, a neurologist at the UNC School of Medicine, met two new patients combatting a rare and fatal neurodegenerative disorder called Batten disease. With help from UNC, the twin girls were able to get personalized treatment from bench to bedside in record time. When Karen and David Kahn’s daughters, Amelia and Makenzie, were born in 2010, they knew life with twins would be different. But after just 18 months, the Kahn family was forced onto an unexpected and harrowing path. Amelia began failing her speech and behavior milestones. At age two, she was diagnosed with autism. Then, at 7-years-old, both girls started experiencing unexplained vision loss and were declared legally blind. Desperate to find a diagnosis, the Kahns reached out to a geneticist for testing, eventually learning that both girls had an extremely rare and progressive genetic disorder of the nervous system...

Distant relatedness in biobanks harnessed to identify undiagnosed genetic disease An innovative analysis of shared segments within the genome — an indication of distant “relatedness” — has identified undiagnosed cases of Long QT syndrome, a rare disorder that can lead to abnormal heart rhythms, fainting and sudden cardiac death. The findings, reported in the journal Nature Communications , illustrate the feasibility of the new approach developed by researchers at Vanderbilt University Medical Center to detect undiagnosed carriers of rare disease-causing genetic variants. “Rare genetic diseases are usually studied in referral populations — people who have been referred to specialty clinics for evaluation — but this approach often overestimates the true population impact, which would be better assessed in large non-referral populations, such as biobanks,” said Jennifer (Piper) Below , PhD, professor of Medicine in the Division of Genetic Medicine and senior corresponding author of the ne...

Experts discover the deadly genetics of cholera, which could be key to its prevention Experts have used a cutting-edge computational approach to discover the genetic factors that make the bacteria behind cholera so dangerous—which could be key to preventing this deadly disease. The breakthrough study, published in Nature Communications, is led by Professor Tania Dottorini from the University of Nottingham, in collaboration with Bangladesh's Institute of Epidemiology, Disease Control and Research (IEDCR), International Center for Diarrheal Disease Research, Bangladesh, and North South University. The innovative research combines machine learning , genomics, genome-scale metabolic modeling (GSMM), and 3D structural analysis to uncover the genetic secrets of Vibrio cholerae—the bacteria behind cholera . Cholera is a deadly diarrheal disease that continues to threaten millions worldwide, with up to 4 million cases and as many as 143,000 deaths each year. In Bangladesh alone, where cho...

Most new recessive developmental disorder diagnoses lie within known genes, say scientists Scientists have conducted the largest and most diverse study to date on how recessive genetic changes contribute to developmental disorders. They found that most undiagnosed cases that are due to recessive causes are linked to genes we already know about, and suggest a shift in research focus could improve diagnosis rates. Researchers from the Wellcome Sanger Institute and their collaborators at GeneDx analyzed genetic data from nearly 30,000 families affected by developmental disorders —six times more families with greater diversity in ancestral backgrounds compared to previous work. While discovering several genes that were previously not linked to these conditions, researchers found that known genes explain over 80% of cases caused by recessive genetic variants. This is a significant increase from previous estimates. The study also revealed the contribution of recessive genetic variants to de...

The Role of Genetics in Cholesterol, Heart Disease Risk At the 2024 Family Heart Global Summit , Helen Hobbs, MD, investigator for the Howard Hughes Medical Institute and professor of internal medicine and molecular genetics at the University of Texas Southwestern Medical Center, shared groundbreaking insights into the genetic roots of high cholesterol and offered a detailed look at how genetic discoveries are reshaping the landscape of cardiovascular disease prevention and treatment. Her presentation centered on decades of research into familial hypercholesterolemia (FH) and cholesterol regulation, and highlighted key topics like the French Canadian deletion, low-density lipoprotein receptor (LDLR) mutations, and the implications of lifelong low LDL cholesterol levels on coronary heart disease (CHD). The French Canadian Deletion: A Historical Genetic Anomaly Hobbs began by recounting one of her most compelling discoveries: the French Canadian deletion. This mutation, which affects th...

A new genetic analysis of animals in the Wuhan market in 2019 may help find COVID-19's origin Scientists searching for the origins of COVID-19 have zeroed in on a short list of animals that possibly helped spread it to people, an effort they hope could allow them to trace the outbreak back to its source. Researchers analyzed genetic material gathered from the Chinese market where the first outbreak was detected and found that the most likely animals were racoon dogs, civet cats and bamboo rats. The scientists suspect infected animals were first brought to the Wuhan market in late November 2019, which then triggered the pandemic. Michael Worobey, one of the new study's authors, said they found which sub-populations of animals might have transmitted the coronavirus to humans. That may help researchers pinpoint where the virus commonly circulates in animals, known as its natural reservoir. "For example, with the racoon dogs, we can show that the racoon dogs that were (at the...

  Key mechanism behind common genetic cause of age-related visual loss discovered Important insights into the mechanisms behind Fuchs endothelial corneal dystrophy (FECD) , a common cause of age-related visual loss, have been revealed in a new study led by UCL researchers. FECD is a common, inherited eye condition that primarily affects the cornea, the clear front part of the eye. It is one of the leading causes of vision loss as people age and is the most common reason for corneal transplants in high-income countries. FECD affects the corneal endothelial cells, which form a layer responsible for controlling fluid balance in the cornea. When these cells are lost more quickly than usual in people with FECD, the cornea becomes swollen and cloudy, leading to blurred vision. The research, led by a team in Dr. Alice Davidson's Inherited Corneal Disease Lab at UCL Institute of Ophthalmology, has revealed how FECD progresses at a molecular level, and highlights the importance of understan...

Food fussiness a largely genetic trait from toddlerhood to adolescence The study, published in the Journal of Child Psychology & Psychiatry and funded by the UK mental health charity MQ Mental Health Research, compared survey results of parents with identical or non-identical twins in England and Wales from the ages of 16 months to 13 years. The research team found that average levels of food fussiness were relatively stable during this period, peaking somewhat around the age of seven and declining slightly after that. They concluded that genetic differences in the population accounted for 60% of the variation in food fussiness at 16 months, rising to 74% and over between the ages of three and 13. Environmental factors shared between twins, such as the types of foods that are eaten at home, were found to be significant only in toddlerhood, while environmental factors unique to each twin (i.e., not shared by co-twins), such as individual personal experiences (e.g., having different ...

Searching for a vaccine against an ancient scourge: Syphilis genetics study points to a potential target Syphilis cases have surged worldwide, leaving public health officials scrounging for ways to stop the spread. Now, a large, collaborative study of syphilis genetics from four continents has found hints of a possible target for a vaccine. Syphilis is a sexually transmitted illness that first appeared in Europe about 500 years ago. Its initial symptoms can vary, but the spiral shaped bacterium that causes it can persist in the body for years, often in the central nervous system, and cause birth defects when it infects infants in utero. Syphilis cases decreased in the middle 20th century as easy, effective treatment with injectable penicillin became available, and became uncommon in the 1990s due to changes in sexual behavior in the wake of the HIV epidemic. But recently, syphilis has made an unwelcome comeback. There were 207,255 cases in the U.S. in 2022, according to the Centers fo...

Why some women enter menopause early — and how that could affect their cancer risk Two studies of more than 100,000 women have revealed a suite of genes that help to regulate when a person enters menopause and thus the length of their reproductive span. Some of the genes could also influence the risk of cancer. Age at menopause can vary widely and is known to be influenced by both environmental and genetic factors. The hope is that these genetic catalogues will help researchers to develop treatments for infertility and create methods for predicting when a person will enter menopause . The studies were published in Nature on 11 September 1 and in Nature Genetics on 27 August2. Rare but powerful These studies join a bevy of recent efforts to identify genes that contribute to premature menopause. But most of those studies looked for genetic variants that are common in the population, whereas the new projects instead focused on DNA sequences that are rare but which might have a grea...

The Medical Minute: Genetics play big role in ovarian cancer In 2024, about 19,680 women in the United States will receive a new diagnosis of ovarian cancer and 12,740 women will die from the disease, said Dr. Shaina Bruce , a gynecologic oncologist at Penn State Cancer Institute . The median age of all patients who develop ovarian cancer is 63. Historically, women at increased risk for ovarian cancer are recommended to have their fallopian tubes and ovaries removed when they have completed having children. Taking that step to protect themselves comes at a heavy price ― surgical menopause. But Bruce said medical science is catching up with ovarian cancer. Studies could lead to new methods for preventative care and the surgery needed to lower risk may be easier than it once was. Below, during Gynecologic Cancer Awareness Month, Bruce discusses the disease and why acting to reduce your risk is worth it. What’s the connection between heredity and ovarian cancer? About 25% of all cases of ...