From Larry Luxner, first published on the Rare Disease Advisor website - edited for clarity 

In 2002, Don Brockman was diagnosed with amyloidosis. The following year, he and his wife launched the nonprofit Amyloidosis Foundation, and in 2007, fellow patient Dennis Krysmalski merged his Amyloidosis Support Network with the foundation.

For the past 20 years, Brockman’s widow, Mary O’Donnell, has led the small charity from Clarkston, Michigan. Today, as executive director and CEO, she supervises 3 employees and an annual budget of around $500,000. Among other things, the group exhibits at 5 medical conferences throughout the year, including those held by the American Society of Hematology, the American Association of Nurse Practitioners, the American College of Cardiology, and the Heart Failure Society of America.

According to Mary O’Donnell, executive director and CEO of the Amyloidosis Foundation "At the beginning, our primary mission was to support medical and scientific research for amyloidosis,” O’Donnell said. “Over the years, we started putting more emphasis on advocacy and patient support. We still have a primary role in providing research grants, but we also provide help for patients and their caregivers.”

One of the group’s grantees is Heather Landau, MD, a board-certified oncologist and hematologist at Memorial Sloan Kettering (MSK) Cancer Center on the Upper East Side of New York City. In 2015, the foundation awarded Dr. Landau a $50,000 research grant to study gene expression changes in light chain, or AL, amyloidosis. In early 2025, MSK won a $125,000 fellowship to support the training of a hematologist in the field of amyloidosis diagnosis and treatment.

An expert on amyloidosis, Dr. Landau recently spoke to Rare Disease Advisor from her 22nd-floor office on the eve of National Amyloidosis Awareness Month. Every March, patient advocates mark the month with a “Light the Night” campaign by illuminating hundreds of porches, bridges, and buildings in red to raise awareness about this complex, often misunderstood disease.

Dr. Landau said the future appears bright for amyloidosis treatment, which is diagnosed in at least 4000 Americans per year. Two rare forms of this disease are transthyretin-mediated amyloid cardiomyopathy (ATTR-CM) and transthyretin amyloid polyneuropathy (ATTR-PN).

“Finally, pharmaceutical companies are partnering with us to try to develop drugs in this space,” she said. “For many years, because of the risk of sudden cardiac death in patients who presented with advanced cardiomyopathy, nobody wanted to study their drugs in a patient population who had that risk. That’s why we’ve lagged behind the drug development paradigm, compared to multiple myeloma.”

According to a 2019 article in the Journal of Cardiac Failure, 1 of 25 Black Americans carries the genetic mutation that can lead to ATTR-CM. But that doesn’t mean all such carriers will develop the condition. A separate type of the disease, known as wild-type ATTR, occurs for no apparent reason and is more likely in men and those over 65, according to the Cleveland Clinic.

Until relatively recently, Dr. Landau said, AL amyloidosis was the most common amyloid disease in the developed world, because the transthyretin (TTR) amyloid cases weren’t being diagnosed due to little awareness. But that’s changing. “Awareness is driving the incidence of diagnoses substantially,” she said. “Now that we have drug development in this space, this may be even more common than light chain amyloidosis because as we age—in mostly older men—their liver takes a wild-type or a normal transthyretin protein that begins to misfold, similar to a man developing prostate cancer. If you live long enough, you may develop wild-type TTR.”

One of the problems with amyloidosis, Dr. Landau said, is that its symptoms often mimic those of more common conditions. “When patients show up to their primary care physician or even a cardiologist with nonspecific symptoms, they don’t necessarily think of amyloidosis,” she said, adding that both ATTR-CM and ATTR-PN are caused by a misfolded transthyretin, a protein produced in the liver.

In January 2021, the US Food & Drug Administration (FDA) approved its first therapy for newly diagnosed AL amyloidosis. Daratumumab (marketed as Darzalex®), in combination with bortezomib, cyclophosphamide, and dexamethasone—the Dara-VCD regimen—was shown in a randomized trial to triple hematologic response rates and double organ response rates.

“It’s sad but true. In 2025, we still have only 1 FDA-approved treatment for this condition. But it happens to be very effective,” she said. “After that first-line therapy, nearly 60% of patients achieve a complete hematologic response. This leaves about 30-40% who need additional therapy, and we don’t have anything in that space,” Dr. Landau explained.

To that end. Dr. Landau is currently conducting the first CAR T-cell trial specifically for AL amyloidosis at MSK. “We have just passed our safety metric, and now we’re opening it to other centers,” she said. 

Originally published on the New York Stem Cell Foundation website 2/26.

INAD is a rare neurological disease affecting children, often referred to as a “pediatric Parkinson’s,” which is typically diagnosed between six months to three years of age. It is caused by mutations in a single gene (PLA2G6), but presents differently in each child, and there are currently no treatments available. 

In the study, NYSCF scientists made stem cell models from INAD patients, which in a recent international collaborative were used to identify new features of the disease, and four drugs that might reverse these features. The team also tested a potential gene therapy in mice that delayed neurodegeneration and prolonged lifespan. The study, published in eLife, included NYSCF Research Institute scientists led by Baylor College of Medicine’s Hugo Bellen, DVM, PhD. 

This study pinpoints novel hallmarks of cells affected by INAD and offers potential therapeutic options for the disease in the form of drugs or gene therapy. These findings could also be used to further our understanding of related, more common diseases such as Parkinson’s. 

“This research is focused on advancing our understanding of the underlying mechanisms of INAD so we can develop therapeutics to target the relevant pathways,” said INADcure, the patient advocacy charity that funded the work and a NYSCF partner. “Screening compounds on INAD disease models (including flies and patient cells) and pre-clinical gene therapy studies in mice provides valuable information that will help the research community and the INADcure Foundation in our mission to accelerate the development of therapeutics for INAD.”

NYSCF’s role in the study was to make stem cells from INAD-affected patients using NYSCF’s automated robotic platform, The NYSCF Global Stem Cell Array®. NYSCF has had a longstanding partnership with INADcure to collect cells from INAD patients and create human models of the disease to accelerate much-needed discovery. Our scientists then used gene editing technology to correct the disease-causing mutation in PLA2G6, and then converted both sets of stem cell lines into neurons, which are primarily affected in the disease.

“It seemed that the knowledge we can gain from looking at stem cells was important for understanding the disease mechanisms and ultimately coming up with a more effective treatment option,” noted INADcure founder Leena Panwala, whose daughter Ariya is affected with the disease. 

The scientists then turned their attention to how these hallmarks could be reversed with potential drugs. They began by choosing 20 drugs (several of which are currently being explored as options for treating Parkinson’s disease). Testing these drugs on INAD-affected neurons created from stem cells, as well as fruit fly models of the disease yielded four candidates – Ambroxol, Desipramine, Azoramide, and Genistein – that could ameliorate INAD features.

The researchers then wondered whether targeting PLA2G6 directly could improve INAD prognosis. The team tested a gene therapy approach in mouse models, introducing a healthy version of the PLA2G6 gene to compensate for the malfunction of the mutated copy. Excitingly, mice who received the gene therapy showed delays in neurodegeneration as well as a prolonged lifespan. This exciting pre-clinical work suggests that such a therapy could be effective in humans.

Not only will all of this be important for INAD patients, but could also be informative for studies of more common diseases like Parkinson’s, which shares many characteristics with INAD.

“This study is an excellent demonstration of the power of stem cell models to help us understand and treat rare diseases,” said Rick Monsma, PhD, NYSCF’s SVP of Scientific Operations, who oversees the NYSCF laboratories. “NYSCF is proud to bring our technology to bear on this important, unmet need, and we are hopeful that the therapeutic leads from this study will pay off in our continued work with INADCure and Dr. Bellen’s lab.”

Originally published by Spectrum News Staff on Jan. 26, 2026

Construction has begun on the $1.7 billion Wadsworth Center Laboratory on the W. Averell Harriman Campus in Albany, Gov. Kathy Hochul announced Monday, saying the public health facility will allow New York to detect, prevent and respond to emerging health threats. 

The project brings the five unconnected Wadsworth labs and about 800 employees together on one 27-acre site. 

Gilbane Building Company, Turner Construction Company and HOK architects designed the new five-story, 663,000-square-foot laboratory, Hochul said. Years in planning, she said it will be completed in 2030. 

“The lab will allow the State to better predict and prepare for emerging threats to public health and will be one of the most authoritative public health laboratories in the country, impacting public health policy and practice at the state, national and international level,” the governor said in a statement.

The Wadsworth Center is 125 years old this year. The new center's location will allow for closer collaboration with nearby SUNY Albany and the neighboring New York State Department of Agriculture and Markets Food Laboratory.

State Sen. Pat Fahy called the project the largest public investment in the Capital Region in decades. 

State Health Department Commissioner Dr. James McDonald said, the facility "will help us ensure our nation-leading public health research laboratory remains on the cutting edge of biomedical and environmental research critical to protecting public health.” 

Additional renderings of the new construction can be seen here.

Originally published 2/26 on the NYS Department of Health website

In October 2023, the New York State Newborn Screening Program launched a landmark one-year pilot study to screen every infant born in the state for congenital cytomegalovirus (cCMV). The results of this study, funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, were recently published in JAMA Network Open, confirming the feasibility of using dried blood spots for large-scale cCMV screening. While cytomegalovirus is common and often harmless in most people, infection in utero can lead to severe complications. It is the leading cause of nonhereditary childhood hearing loss and can result in microcephaly, visual impairment, and seizures.

The program utilized quantitative polymerase chain reaction (qPCR) to analyze dried blood spots from approximately 208,000 newborns. The screening identified several key data points regarding the prevalence of CMV infection and treatment for cCMV:

• Screening Results: 529 newborns (1 in 393) screened positive, referred for specialty care.

• Confirmed Diagnoses: 276 infants were confirmed to have cCMV (1 in 755).

• Clinical Presentation: Among the confirmed cCMV cases, 24.6% were symptomatic, 71.4% were asymptomatic, and 4.0% presented with isolated hearing loss.

• Treatment: Notably, 70.6% of symptomatic infants received antiviral medication. Many were treated as a direct result of early detection by newborn screening.

The study successfully demonstrated that universal screening allows families to access subspecialists early, which could lead to improved developmental and hearing outcomes. However, the pilot also identified challenges to implementation of universal cCMV screening, including the high frequency of detecting postnatally-acquired CMV (which is less severe than congenital infection), false-positive and false-negative results, and the complexities of managing long-term follow-up for infants who are asymptomatic at birth but may be at risk for later-onset developmental issues or hearing loss. 

For more on the NYS Dept. of Health Newborn Screening Program CLICK HERE