Latest news with #WashingtonUniversitySchoolofMedicine
Dominion Post
6 days ago
- Health
- Dominion Post
Larry K. Pickering
Dr. Larry K. Pickering, a distinguished leader in pediatric infectious disease and a dedicated mentor, passed away Tuesday, July 1, 2025, in San Diego, Calif. He was 81.A trailblazer in medical education, research, and public health, Dr. Pickering played a pivotal role in shaping immunization policy in the United States and around the world. His contributions profoundly impacted the health and lives of countless children in 1944, Dr. Pickering earned his medical degree from West Virginia University School of Medicine in 1970. He completed a pediatric residency and an infectious disease fellowship at Washington University School of Medicine, launching a remarkable career devoted to protecting children from infectious his career, Dr. Pickering held academic and leadership roles at the University of Texas-Houston, MD Anderson Cancer Center, Emory University, Eastern Virginia Medical School, and the Centers for Disease Control and Prevention (CDC). He served on the Advisory Committee on Immunization Practices (ACIP) and was editor of the American Academy of Pediatrics' Red Book for three editions – a definitive resource on pediatric infectious Pickering is survived by his beloved wife, Mimi; their children, Maggie and Andy; and three grandchildren, Kenan, Edie and Mae. He is also survived by his sister, Susan; brother-in- law, Mike; and two nephews, Lucas and was known for his sharp wit and infectious sense of humor, and he was willing to bet on almost anything. His granddaughters remember him as an inspiring and kind-hearted man who always had a joke to share. A master card player, he usually won, and graciously accepted checks from those who owed was deeply proud of his West Virginia roots and his alma mater, West Virginia University. He established a lasting scholarship there to support future generations of medical students, endowed Pickering Chair, and the Hogan Lecture Series.A memorial service will be held in September 2025 to honor his enduring legacy in pediatric infectious disease and public health. In lieu of flowers, the family requests donations to the West Virginia University Pediatric Department or Alzheimer's San Diego.
Mint
29-06-2025
- Health
- Mint
Three siblings, one fatal gene: A family's fight against early-onset Alzheimer's
Hannah Richardson is hopeful about her future and its endless possibilities. But the 24-year-old's plans are clouded by an unthinkable reality—there is a 50% chance she will develop Alzheimer's disease in her 30s. Hannah's family has a history of a rare genetic mutation that, when inherited, virtually guarantees that the carrier will die of an aggressive form of Alzheimer's early in life. No drug has been found to stop it. But now researchers are exploring a new avenue: Could pre-emptive treatment slow or even halt the memory-robbing disease in people at high risk of developing it? Hannah and her two siblings will help researchers test that theory. They are enrolling in a new clinical trial led by doctors at the Washington University School of Medicine. As part of the trial, the siblings will finally find out if they carry the fatal gene. 'I don't know if being in the trial is going to save me or my siblings. But in my head, it's the least I can do. Research is how cures are found," said Hannah, who dreams of becoming a physician assistant and is applying to graduate programs. Her brother Jacob, 22, and sister Rylee, 19, are both in college. Unlike most cases of Alzheimer's, which are unpredictable, 'in this population we know who will develop the disease and when they will develop it," said Heather Snyder, senior vice president of medical and scientific operations at the Alzheimer's Association, a major funder of the trial. Doctors have identified over 300 inheritable genetic mutations that cause early-onset Alzheimer's. These rare genes account for less than 1% of people with the condition, but researchers say that studying families like the Richardsons can offer insights into how to prevent and treat Alzheimer's in everyone. Among the people in Hannah's family who carry a mutation in what is known as the presenilin-1, or PSEN1, gene, the average age when Alzheimer's symptoms start is 39, according to the family. The disease is aggressive once symptoms appear and the decline is swift, the family said. 'I call it the monster," said Mary Salter, Hannah's grandmother. Hannah's grandfather and three of his four brothers died of Alzheimer's in their early 40s, soon after developing symptoms. Hannah's uncle died last year of the disease at the age of 44. And Hannah's mother, Carrie Richardson, started showing subtle signs of the disease in her early 40s. Now at age 44, Carrie has started to decline mentally. Carrie's children remember vividly the day in 2012 when she learned she was a carrier of the PSEN1 mutation. Her eyes were red and puffy when she picked the kids up from school. Pressed by Hannah to tell them why, a sobbing Carrie told them the news in the car. The siblings, who were all under 12, remember crying, too, though not fully understanding why. Today, Carrie has memory lapses and sometimes struggles to communicate, her children say. Her worsening symptoms forced her to quit her job as a preschool teacher and this month, she started the process of leaving her own home to move in with Mary. Carrie and her brother enrolled in a clinical trial that began at WashU Medicine in 2012. That trial tested whether the early use of experimental drugs that target a sticky protein in the brain known as amyloid could slow the progression of Alzheimer's in people who carried PSEN1 mutations and other rare genes. Hannah's uncle hadn't been able to join an extension of the trial because his symptoms became too pronounced, but her mom continues to be a participant and receives a bimonthly infusion of an antiamyloid drug. In a paper published in Lancet Neurology in March that detailed interim results of the extended trial, WashU Medicine researchers said treating people like Hannah's mom with antiamyloid drugs before Alzheimer's symptoms began, delayed the onset of the disease—in some cases lowering participants' risk of developing symptoms by 50%. The first antiamyloid drugs were approved by the Food and Drug Administration in 2021. These drugs clear accumulations, or plaques, of amyloid in the brain, which researchers once thought could be the root cause of Alzheimer's. But some doctors have since questioned this hypothesis, as well as whether the benefits of these treatments outweigh their risks. The drugs don't stop Alzheimer's in its tracks and though they have shown to reduce cognitive decline in some large clinical trials, the slowing was modest at best, said Dr. Scott Small, a Columbia University neurologist. Carrie Richardson prepares to blow out candles on her birthday cake surrounded by her children and mother.A sign honoring Bryan Salter hangs on Mary Salter's home. 'The science now predicts that amyloid plaques are not the root source of Alzheimer's," Small said. Swelling and bleeding in the brain is a possible side effect of antiamyloid drugs. Rarely, people have died from this complication. In about half of all patients in the WashU Medicine study, some brain swelling and microbleeds were detectable in MRI scans, though researchers said about 95% of participants had no symptoms from the medications. Antiamyloid drugs remain the only FDA-approved treatment available that can change the course of Alzheimer's. Dr. Randall Bateman, a neurologist who led the WashU Medicine study, said early use of the treatments could improve their efficacy and safety. He said he remains optimistic that removing—or even preventing altogether—the buildup of amyloid could slow or even halt the progression of the disease. Hannah and her siblings believe that antiamyloid drugs have helped stall their mom's Alzheimer's. That belief spurred them to enroll in a similar WashU Medicine clinical trial—one that seeks to treat carriers of rare genes with a different experimental antiamyloid drug, called remternetug, many years before they develop symptoms and, in some cases, even before amyloid has built up in their brains. Drugmaker Eli Lilly, which makes the drug, said it works similarly to earlier antiamyloid treatments but has the benefit of being administered as an injection rather than an intravenous infusion. Rylee Richardson, a cheerleader and rising sophomore at Tulane University, said she and her siblings thought long and hard about participating in the trial. They ultimately decided that it was worth the potential risks. 'I will do anything that gives me and my siblings a better chance," she said. Until now, Rylee and her siblings had decided not to find out if they carry the PSEN1 mutation out of fear that it could upend their lives. But if they want to participate in the extended phase of the trial, they will have to learn the truth. The initial phase will last for two years and focus on basic efficacy and safety questions, said Dr. Eric McDade, a colleague of Bateman's who is leading the trial. Only people who test positive for a high-risk genetic mutation will be randomized to either receive a low dose of the active drug or placebo. For those who test negative, they can stay in the trial if they choose not to find out their genetic status and would be given a placebo. Dr. Richard Isaacson, a neurologist at the Institute for Neurodegenerative Diseases who isn't involved in the trial, said he believes antiamyloid drugs could be helpful in slowing cognitive decline when used preventively in patients at risk of Alzheimer's. He himself prescribes them to patients at his clinics in New York and Florida, but only in people who already have some amyloid buildup. He questioned whether it made sense to use these drugs in people who don't have amyloid at all. 'That is not something that sits well with me," said Isaacson. WashU Medicine researchers said that in animal experiments, antiamyloid treatments were most effective when used before evidence of amyloid buildup. But such an experiment has yet to be conducted in people. Alzheimer's has been a specter that has haunted the Richardson siblings since they were children. The three of them made a pact years ago to not have children if they learned that they carried the Alzheimer's gene. 'We decided that we would be the last three. No one has to suffer anymore from our family," Hannah said. 'We want to do everything we can to stop it for us and everybody else."
The Hindu
08-05-2025
- Health
- The Hindu
MDRF, U.S. researchers call for precision treatment following discovery of a new subtype of monogenic diabetes
Scientists from the Madras Diabetes Research Foundation (MDRF), Chennai, in collaboration with Washington University School of Medicine in St. Louis, United States, have discovered a previously unrecognised subtype of Maturity-Onset Diabetes of the Young (MODY), and have called for wider access to genetic screening and precision treatment for diabetes patients, particularly in India. The findings were presented to the media at a conference held at the MDRF here on Thursday. MODY is a rare, inherited form of diabetes caused by mutations in a single gene, typically appearing in adolescents and young adults. While 13 MODY subtypes have been recognised to date, the newly identified variant challenges long-standing assumptions about the condition, doctors said. Need for genetic testing in diabetes management Researchers say the breakthrough not only adds to scientific understanding but also underscores the urgent need to integrate genetic testing into routine diabetes care. This, they noted, could mark a turning point in improving diagnosis, treatment, and long-term disease management for thousands of individuals living with undetected or misclassified forms of monogenic diabetes. The study, published in the journal — Diabetes —of the American Diabetes Association, identifies Loss of Function (LOF) mutations in the ABCC8 gene (it helps regulate insulin release in the pancreas by controlling a channel that responds to glucose levels, allowing insulin to be released into the bloodstream, when needed), in contrast to the Gain of Function (GOF) mutations previously linked to MODY and neonatal diabetes. The new variant results in early-life hypoglycemia, followed by later-onset diabetes — a progression previously undocumented in MODY cases. Colin G. Nichols, lead researcher, Washington University School of Medicine, highlighted in the study that the LOF mutation impairs potassium channel function in pancreatic beta cells, disrupting insulin secretion. He said the study marked the first observed switch from congenital hyperinsulinism to diabetes in maturity-onset diabetes of the young context. Clinical implications and treatment possibilities Radha Venkatesan, executive scientific officer, head of molecular genomics at MDRF and co-lead author, emphasised the clinical implications of this discovery. 'This variant does not respond to conventional treatments such as sulphonylureas, which are effective in other MODY forms. Understanding the underlying genetic mechanism is key to guiding appropriate therapy,' she said. V. Mohan, chairman of MDRF, reiterated the importance of incorporating genetic testing into standard diabetes diagnosis. 'Many patients with MODY remain undiagnosed or misclassified as having type 1 or type 2 diabetes. This discovery strengthens the case for precision diagnosis and treatment,' he said. The findings are based on clinical data and laboratory analysis of Indian patients. Researchers believe that expanding access to genetic testing could lead to earlier detection and more effective care for individuals with monogenic forms of diabetes.
Time of India
08-05-2025
- Health
- Time of India
Indian and US Scientists Discover New Subtype of MODY Diabetes
New Delhi: In a major discovery that could transform diabetes care worldwide, researchers from the Madras Diabetes Research Foundation (MDRF), Chennai, and Washington University School of Medicine, St. Louis, have identified a previously unknown genetic subtype of Maturity-Onset Diabetes of the Young (MODY). The study has been published ahead of print in the prestigious journal 'Diabetes', published by the American Diabetes Association. This breakthrough reveals a novel disease mechanism linked to the ABCC8 gene, which plays a key role in insulin production in the pancreas. The newly discovered MODY subtype arises from Loss of Function (LOF) mutations in this gene — a sharp contrast to the Gain of Function (GOF) mutations previously associated with this gene in other forms of diabetes. Prof Colin G Nichols, the lead researcher of this work from Washington University School of Medicine, St Louis, Missouri, USA states: 'Usually ABCC8 mutations work through Gain Of Function (GOF) mutations which lead to enhanced ABCC8 protein activity. This can occur in neonatal period when it is known as Neonatal Diabetes. In adults it occurs as ABCC8 MODY or MODY 12). Through our collaborative work with MDRF, using various experiments in the laboratory, we were able to show some novel mutations in the Indian patients with MODY which occur as Loss Of Function (LOF)." "LOF mutations, abolish or reduce the activity of protein and they normally lead to Congenital Hyperinsulinism (CHI) which presents as persistent low blood glucose levels (hypoglycemia) in childhood. These patients seem to have had CHI earlier but crossed over to the opposite condition, of high blood sugar (diabetes) in later life. This is the first demonstration of this mechanism in a MODY subtype to our knowledge," Prof Nichols added. The research involved in-depth genetic and functional studies of Indian patients clinically diagnosed with MODY. It was spearheaded in India by Dr. Radha Venkatesan, Executive Scientific Officer and Head of Molecular Genetics at MDRF, who called the discovery a "significant advancement in understanding the functional dynamics of potassium ATP (K-ATP) channels in pancreatic beta cells." Dr. Venkatesan explained that this subtype behaves differently from other well-known forms of MODY, such as MODY 3, MODY 1, and MODY 12, all of which typically respond well to sulphonylurea medications. However, individuals with this new subtype do not respond to such drugs, emphasizing the need for personalized treatment strategies. Dr. V. Mohan, Chairman of MDRF, said, 'This is a major milestone in diabetes research from India. The discovery highlights the importance of genetic testing for precision diagnosis. By identifying these distinct subtypes of MODY, we are paving the way for tailored therapies and improved outcomes for patients who would otherwise be misdiagnosed or inadequately treated.' MODY is a rare, inherited form of diabetes caused by mutations in a single gene and usually manifests in adolescence or early adulthood. To date, 13 MODY subtypes have been recognized. This newly identified variant challenges conventional understanding of how MODY develops and points to the need for broader access to genetic screening, particularly in low- and middle-income countries where such diagnostics are often unavailable. Researchers say the finding could guide the development of novel diabetes drugs targeting this specific genetic pathway and stress the importance of functional studies alongside genetic testing in unraveling complex diseases.
Observer
02-05-2025
- Health
- Observer
Breast cancer is becoming less deadly for younger women: US study
Young US women with breast cancer are not dying from the disease as often as a decade ago, researchers reported at the American Association for Cancer Research 2025 meeting in Chicago. From 2010 to 2020, breast cancer deaths among women ages 20-49 declined significantly across all breast cancer subtypes and racial and ethnic groups, with marked declines starting after 2016, according to an analysis of data from the national Surveillance, Epidemiology and End Results registry. Overall, the breast cancer death rate in this age group fell from 9.70 per 100,000 women in 2010 to 1.47/100,000 in 2020. The decline was sharper after 2016, likely due to advancements in treatment options, greater uptake of precision medicine, and expanded access to care and screening in women ages 40-49, study leader Adetunji Toriola of the Washington University School of Medicine in St. Louis said in a statement. While breast cancer mortality declined in every racial and ethnic group, non-Hispanic Black women had the highest rate in both 2010 (16.56/100,000) and 2020 (3.41/100,000). Non-Hispanic white women had the lowest rates in 2010 (9.18/100,000) and 2020 (1.16/100,000). 'We have made tremendous advances in reducing mortality from breast cancer in young women but there are still opportunities for improvements, especially in relation to eliminating disparities,' Toriola said. 'We must continue to perform impactful research to ensure a further reduction in breast cancer mortality, including research into understanding the tumour biology and molecular mechanisms driving carcinogenesis and treatment response in younger women.' GLP-1 DRUGS MAY CURB ATRIAL FIBRILLATION GLP-1 drugs that are used to treat diabetes and have become wildly popular for weight loss, may also be useful for controlling the common heart rhythm disorder atrial fibrillation, researchers reported at the Heart Rhythm 2025 meeting in San Diego. Researchers looked at more than 2,500 patients with type 2 diabetes, atrial fibrillation and obesity at 170 US Veterans Affairs medical centres. Those who were receiving a GLP-1 drug experienced a 13% reduction in major AF-related events during a median follow-up of three years, compared to patients receiving other medications for their diabetes. AF-related events included hospitalisations for the disorder, need for electroshock therapy to reset the heart rhythm, and ablation procedures to heat heart tissue in order to create scars that interrupt the electrical signals causing the arrhythmia. Researchers did not identify the drugs being taken but common examples of GLP-1 medicines for diabetes include Novo Nordisk's Ozempic, Rybelsus and Victoza, and Eli Lilly's Mounjaro and Trulicity. Because patients were taking low doses of GLP-1 drugs, rather than higher doses used for weight loss, the results suggest the arrhythmia benefits are independent of any weight-loss benefit, the researchers noted. The study was not designed to prove the GLP-1 drugs caused the reduction in AF events. But study leader Dr Varun Sundaram of the Louis Stokes Cleveland VA Medical Center and Case Western Reserve University said, 'Given the growing obesity epidemic and the rising prevalence of atrial fibrillation,' it lays the foundation for a new approach to treating AF if larger trials confirm the potential benefits. — Reuters
