Genetics News

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New AD in Sephardi Jews Study Launches

A new study funded by a grant of more than $13 million from the US National Institutes of Health will look into possible genetic reasons why Sephardic Jews are diagnosed with Alzheimer’s disease at younger ages than other people.

The project officially launched on May 5 as representatives of partner institutions met at Beilinson Hospital in Petah Tikva. Aside from Beilinson, the research consortium includes Rambam Medical Center in Haifa, Barzilai Medical Center in Ashkelon, Laniado Hospital in Netanya, and Prof. Lindsay A. Farrer from Boston University School of Medicine.

A kick-off meeting on May 5, 2024 for a five-hospital collaboration for an NIH-funded Alzheimer’s study is attended by: Beilinson Hospital Director of Cognitive Neurology Dr. Amir Glik; Prof. Lindsay Farrer, Director, Boston University Molecular Genetics Core Facility, Boston University School of Medicine; Rambam Health Care Campus Director of Cognitive Neurology Dr. Rachel Ben Hayun; Barzilai Medical Center Director of Cognitive Neurology Dr. Zeev Nitsan; and Prof. Bowirrat Abdalla, Senior Neurologist at Laniado hospital. (Courtesy of Beilinson Hospital)


This new research builds on a peer-reviewed study conducted at Beilinson and published in 2018 in the Journal of Alzheimer’s Disease. It showed a disparity between the prevalence of early-onset Alzheimer’s disease (EOAD) in Sephardi versus Ashkenazi Jews.

Read the full news article here.

New Collaboration: Boston University & Chosun University

On February 20th, 2024, Boston University's Chobanian & Avedisian School of Medicine and Chosun University, Korea signed a memorandum of understanding.

Their agreement recorded their intention to promote an academic and research collaboration. The two universities are aiming to collaborate more closely and explore additional ways to mutually benefit from sharing their resources and networks in the areas of public health and biomedical research.

Watch more of this event coverage by YTN, a Korean broadcast channel, below:

Can We Find a Cure for Alzheimer’s Disease?

BU researchers are taking on this daunting question through a variety of approaches—and studying how to care for a growing population of people with the disease.

Perhaps it starts with a quick memory lapse—a blank space where a loved one’s name should be, or a mysteriously empty key hook right before heading out. These are normal moments of forgetfulness that accompany aging. But then maybe this forgetting gets more concerning: long-cherished memories suddenly disappear and don’t come back easily (or at all), or behavioral changes cause unexpected hostility toward friends and family. By now, it’s clear: this is no longer simple, age-related memory loss; this is something more complex. Something such as Alzheimer’s disease.

Around the world, more than 55 million people have dementia, the majority with Alzheimer’s, a degenerative brain disorder that’s the result of damage to the brain’s nerve cells and causes memory loss, behavioral changes, confusion, and deterioration of language skills. In the United States, more than 6.7 million people over the age of 65 are living with Alzheimer’s, according to the Alzheimer’s Association, and the likelihood of developing the disease only goes up with age. And, while there are a number of therapeutic treatments available to people with the disease, there’s currently no cure.

Will there ever be?

That’s the question a number of researchers at Boston University are tackling, and with vastly different approaches. Among many others, there’s Ann McKee, the William Fairfield Warren Distinguished Professor of Neurology and Pathology, who is searching for answers to Alzheimer’s at a genetic level; Wendy Qiu, a Chobanian & Avedisian School of Medicine professor of psychiatry who is exploring the causes of Alzheimer’s; and Ioannis Paschalidis, a College of Engineering Distinguished Professor of Engineering, who has developed an artificial intelligence–powered program to detect the disease. The University is also home to the Alzheimer’s Disease Research Center, one of 33 such organizations in the US funded by the National Institutes of Health to advance research on Alzheimer’s disease and related dementias. At the same time, other BU researchers are exploring ways to improve the quality of care for patients who currently have the disease, as well as build out resources for their families and caregivers.

Indeed, where some might see grim statistics and an uphill battle, dozens of geneticists, medical scientists, and other researchers at BU see opportunity—a chance to take on one of society’s greatest medical challenges. The Brink explores three approaches, by three different researchers, aimed at improving treatment, diagnosis, and care for people with Alzheimer’s. Read the full article by Molly Callahan here.

BU Study Finds Ashkenazi Jews are More Likely to Suffer from Alzheimer’s

June 1, 2023 - Study author Dr. Lindsay Farrer, and other researchers including Dr. Donghe Li and Dr. John Farrell, had their article, Novel loci for Alzheimer's disease identified by a genome-wide association study in Ashkenazi Jews, published in the journal Alzheimer's & Dementia.

Donghe Lifarrell

Farrer and his colleagues conducted a genome-wide association study for AD in a sample of 3,500 people whose ancestry was almost exclusively Ashkenazi Jewish, including roughly equal numbers of persons with AD and cognitively normal individuals who were identified in a much larger group of EA (European ancestry) participants in large national AD genetics studies using an approach that compared genetic signatures with members of an Ashkenazi Jewish reference sample.

“Our study illustrates the greatly increased power for detection of genetic associations in communities like Ashkenazi Jews who trace their lineage to a relatively small group of ancestors," said Farrer. "In such communities, disease-associated variants may be much more frequent compared to samples ascertained from large, mixed populations".

Trans-ethnic studies have shown that population differences in genetic background can be leveraged to make novel discoveries that might require a sample size several orders of magnitude larger to achieve similar success studying a single population, according to the study.

“Similarly, studies of small samples from founder populations (ethnic or religious groups whose origins can be traced to a limited number of ancestors and thus have a more homogeneous genetic background) have successfully detected robust and subsequently validated associations of AD with several genes,” the researchers wrote.

The researchers identified several genetic risk factors for AD, including some previously known (APOE, TREM2) and several novel ones that are strong biological candidates (RAB3, SMAP2, ZNF890P, SPOCK3, GIPR). Study author Dr. Lindsay Farrer said there are lessons to be learned here about genetic diseases in communities with a smaller gene pool. He said the genes highlighted by the study could be relevant to diagnosing and treating Alzheimer's in other populations.

Read the full article in The Jerusalem Post

Dr. Farrer’s Radio Interview SiriusXM-Doctor Radio’s Internal Medicine show hosted by Dr. Ira Breite (NYU Langone Health)

January 9, 2023, Dr. Farrer and Dr. Subramanian were featured guests on SiriusXM-Doctor Radio’s Internal Medicine show hosted by Dr. Ira Breite (NYU Langone Health, gastroenterologist & Clinical Associate Professor of Medicine).

The talk discussed the recent study on the relationship between age-related macular degeneration as a risk factor for COVID-19 infection and severe disease.

Headshot of Lindsay Farrer

Age-Related Macular Degeneration a Risk factor for Covid-10 Infection

Recent evidence has emerged to suggest that age-related macular degeneration (AMD) is a clinical risk factor for increased risk for infection and mortality. AMD has been reported to confer higher risk of severe complications of SARS-CoV-2 infection, including respiratory failure and death (25 percent), a risk which is higher than Type 2 diabetes (21 percent) and obesity (13 percent).

Considering these observations, researchers from Boston University Chobanian & Avedisian School of Medicine hypothesized that AMD and COVID-19 share common genetic risk factors and designed and executed a study that identified a novel association of the two diseases with variants in the PDGFB gene. This gene encodes a platelet derived growth factor (PDGF) which has a role in the formation of new blood vessels and is involved in the abnormal blood vessel changes that occur in AMD. They also found that more severe COVID-19 outcomes were associated with AMD likely arising from genetic predisposition to dysfunction involving complement proteins, as well as with a higher level of PDGF in blood serum.

“Our findings add to the body of evidence for the increased risk of infection and mortality from COVID-19 among AMD patients. Our analysis lends credence to previously reported clinical studies that found those with AMD have a higher risk for COVID-19 infection and severe disease, and that this increased risk may have a genetic basis,” explained co-corresponding author Lindsay A. Farrer, PhD, chief of biomedical genetics. Read more here



Dr. Xiaoling Zhang interview with Medical News Today: Risk of Alzheimer’s linked to cholesterol, blood sugar levels at age 35

March 29, 2022, Dr. Xiaoling Zhang interviewed with Annie Lennon from Medical News Today, and discussed about the recent study published in Alzheimer's and Dementia: The Journal of the Alzheimer's Association, Farmingham Heart Study.

Dr. Xiaoling Zhang told MNT that improved blood flow in the brain might also explain some of their findings.

She explained that HDL could increase transportation and thus reduce the accumulation of amyloid-beta plaques, which are protein build-ups characteristic of AD.

When asked about the link between AD and glucose levels, Dr. Zhang said that higher glucose levels in the blood are linked to higher brain glucose concentrations and more severe plaques in AD brains.

Find more information of the interview here.

Dr. Farrer Interview with CNN: Fight Alzheimer’s in your mid-30s by tracking these warning signs

On Wednesday, March 23, 2022, Dr. Lindsay Farrer interviewed with Sandee LaMotte from CNN, and discussed about the recent study published in Alzheimer's and Dementia: The Journal of the Alzheimer's Association, Farmingham Heart Study.

Dr. Lindsay Farrer"What's unique about the study is the large sample of individuals that are examined every four years or so, starting at age 35, and followed into the age when an Alzheimer's diagnosis may occur," Farrer said.

According to the Study, People 35 to 50 could lower their Alzheimer's risk by 15.4% if they raised their high-density lipoprotein, or HDL, by 15 milligrams per deciliter. People between the ages of 51 and 60 who raised their HDL reduced their risk by 17.9%.

    "The take-home message is that people who are in their 30s and early 40s need to have their lipids and blood sugar measured. That's the only way you'll detect any issues," Farrer said.
    "But many people that age feel they're healthy and say, 'Why do I need to see a doctor all the time?' So it's encouragement for people to start having regular checkups at that period of your life," he added.
    Find more information of the Interview here.

    Dr. Huiping Zhang Funded R01 Grant

    Identifying Brain Epitranscriptomic Changes Associated with Alcohol Use Disorder


    Huiping Zhang, PhD

    Award Number: 1R01AA029758-01

    Chronic alcohol consumption may result in methyl-adenosine modification of brain RNAs, thus altering the stability and expression of brain RNAs involved in reward or addiction-related pathways. This R01 project will (1) identify differentially methylated and expressed messenger RNAs (mRNAs) in multiple regions of postmortem brains of subjects with alcohol use disorder (AUD), (2) validate AUD-associated brain mRNA methylation and expression changes by mouse modeling, and (3) confirm the effect of AUD-associated brain mRNA methylation changes on mRNA expression and neuronal activity by an innovative epitranscriptome editing approach. The findings will provide insight into a novel epitranscriptomic mechanism of AUD and facilitate the design of a novel AUD therapeutic strategy through altering the methylation status of specific mRNAs.

    Here for more information about the research

    Dr. Huiping Zhang Recieved 2022 Wing Tat Lee Award

    Congratulation to Dr. Huiping Zhang who has recieved the 2022 Wing Tat Lee Award

    Headshot of Dr. Zhang.Dr. Zhang will collaborate with Ying Liu, PhD, associate professor of genetics at Soochow University, to study the genetic mechanism of 22q11.2 deletion syndrome (22q11.DS), which is a disorder characterized by heart abnormalities, recurrent infections and distinctive facial features. They will use genome editing techniques to study the function of genes and genetic variants within the 22q11.2 deletion region. Functional genetic variants identified in this deletion region could be useful diagnostic biomarkers for 22q11.DS