Sunday, December 12, 2010

Medical Research

"ALL OF US STUDY" BY NIH

First 100,000 Genome Sequences Opened for Research
That the most of the genome sequence research as of today is based on a monolithic set of samples of European descent has led the National Institutes of Health to undertake a gargantuan study, dubbed "All of Us", to diversify the pool of genetic sources among broader population groups in order to deliver the fruits of precision medicine on mass scale. The study is destined to collect more than 1 million genome sequences from various ethnic and racial groups in the U.S. Despite the pandemic that has slowed down the pace of the sample (blood or saliva) collection and experiment in the past two years, more than 474,000 people have agreed to participate in the study and at least 325,000 participants have provided their samples. On March 17, 2022, a database of 100,000 whole genome sequences from the first participants have been opened to researchers. 


ALZHEIMER

Eli Lily Drug Shows Promise
A Phase II trial finding shows some great promise for donanemab to slow down the Alzheimer's progression in an 18-month timeline and remove a protein, Amyloid, from patient's brain. The finding based on experiment conducted in 257 subjects has been virtually presented on March 13, 2021 at the International Conference on Alzheimer's & Parkinson's Diseases and is being concurrently published in the New England Journal of Medicine. The key outcomes of the trial are:
* Donanemab slows down the Alzheimer's progression by about 32% on a composite measure of cognition and function (compared to a placebo)
Donanemeb is credited for removing Amyloid from the brains of most of the subjects who have received the drug

FDA Approves First Alzheimer's Drug in 20 Years
In a controversial decision, Food and Drug Administration on June 7, 2021 approved a drug shown to have only marginal improvement for Alzheimer's patients. The drug, developed by Amherst, MA-based Biogen and Japanese company, Eisai Company, helps moderately slow down the brain-destroying disease's progression, raising questions about the severity of side effects compared to benefits. The intravenous infusion drug, aducanumab, will be marketed as aduhelm. Biogen and Elsai said in a statement that the annual cost of this drug would be $56,000. Based on the evidence, aduhelm slows down the decline in cognitive and functional activities by 22% that translates into a meager shift of 0.39 point on an 18-point scale of cognitive and functional ability. FDA on June 7, 2021 granted the so called accelerated approval for aducanumab, implying that Biogen and Eisai would have to continue with the trial. If the trial outcome does not stand up to the evidence upon which the approval has been granted, FDA can yank the drug out of the market. 

FDA Asks Inspector-General to Investigate Staff-Manufacturer Contact
Food and Drug Administration Acting Head Janet Woodcock on July 9, 2021 asked the inspector general of Health and Human Services to launch a probe into unusual contacts between the FDA staff and aduhelm maker Biogen. Despite lack of strong evidence of reversing the progression of Alzheimer's, FDA gave conditional approval for aduhelm in June 2021 over objection of many of its outside advisers. 

FDA Grants Accelerated Approval for Monoclonal Antibody-based Alzheimer's Drug
On January 6, 2023, Food and Drug Administration granted accelerated approval for a monoclonal antibody drug, Lecanemab, to be sold under the name Lequembi. In a mid-stage trial, the drug was found to slow down the Alzheimer's progression modestly for patients with cognitive impairment or mild dementia caused by Alzheimer's. The drug attacks the Amyloid Beta, a protein that causes Alzheimer's, and removes the chemical from the brain cells. A recent study, though, that is not leveraged by the FDA decision-makers yet, shows that Lecanemab slows down the progression of the debilitating neurological disease almost by 27%. In the trial, Clarity Study, that supported the "accelerated approval" decision, about 1,800 patients have been allowed to take the drug or placebo. On a scale of 18, the patients who decided to take the intravenous drug twice a month scored half-a-point better than the patients in the placebo group after 18 months. 
However, not all of the SMEs and medical experts are on board with the drug co-developed by Japanese pharmaceutical firm Eisai and Biogen has some serious effect, and at least three patients are reported to have died while under the trial. FDA received a plenty of flak on another Alzheimer's drug, Aduhelm, that was granted by the FDA in 2021. The benefit from Aduhelm was so minuscule that its approval--even the conditional approval--was widely panned. In 2021, Eisai and Biogen set the initial price for Aduhelm at $56,000 annually, inviting severe condemnation from all quarters. The Aduhelm price was later cut in half. The Institute for Clinical and Economic Review, which analyzes drug prices, has recently stated that the reasonable price range for Lecanemab should be between $8,500 and $20,600 per year to become viable and cost-effective for consumers.

FDA Grants First Full Approval of Alzheimer's Drug
In the first of its kind, Food and Drug Administration on July 6, 2023 granted a full approval for Alzheimer's drug Leqembi that had shown mild improvement in preventing the decline of cognitive and functional workstreams while posing not-so-trivial risks from side effect and cost effectiveness. The drug, which had been granted on accelerated approval earlier, was found from a later-stage study to slow the cognitive and functional decline by 27% in a later-stage study compared to the Placebo, translating a rough timeline of five months of relative efficacy of the drug.
However, there is some substantial side effect--also known as ARIA, or Amyloid-Related Imaging Abnormalities--including brain swelling and bleeding. The risk of side effect increases if two copies of a genetic variant--APOE4--thought to be highly correlated with the Alzheimer's progress are present in the patient. Before the drug is intravenously administered into a patient, a test on APOE4 is recommended to be carried out. The drug, a monoclonal antibody that targets Amyloid protein, is to be intravenously administered every other week. There is a differing point of views on the efficacy and safety of Leqembi. The reputable medical journal Lancet said in an editorial in December 2022 that the impact of the drug might "not be clinically meaningful". The annual cost of $26,000 may be another prohibitive factor. However, CMS Administrator Chiquita Brooks-LaSure issued a statement on July 6, 2023, vowing to provide nation's elderly to "timely access to innovative treatments". 

Innovative Tool to Inject Drug Found Efficient, Research Shows
Researchers reported that focused ultrasound approach could loosen the blood-brain barrier to let the Alzheimer's medication flow into the targeted region of the brain. The blood-brain barrier works as a preventive wall against germs getting entry into brain cells. However, it also works as a repellent to the drugs from getting into targeted brain regions to remove Beta Amyloid, the protein that causes the mind-robbing disease. The focused ultrasound tool injects microscopic bubble into the blood and it then sends the sound waves through a helmet-like device to temporarily create openings in the blood-brain barrier. Researchers with the West Virginia University's Rockefeller Neuroscience Institute led by Dr. Ali Rezai conducted the research and their findings were published in the New England Journal of Medicine, according to a front-page article of The Dallas Morning News on January 4, 2024
Dr. Rezai's team gave three patients with mild Alzheimer's monthly doses of Aduhelm for six months. After every IV injection of the drug, the researchers used the focused ultrasound to accelerate the flow of the drug into a targeted region of the brain. A PET Scan after six months showed that the reduction of the plaque in the targeted region was on the average 32% more compared to the region on the opposite side of the targeted region. 

Strong Correlation between Alzheimer's, Ambient Air Pollution Reported 
The Dallas Morning News reported on February 24, 2024 that people who were exposed to ambient air  pollution were more likely to have cognitive decline, including memory-robbing Alzheimer's. Ambient air pollution is measured as concentration of fine particulate matter, or PM2.5, in the air. The research findings were reported in the journal Neurology. The research found that people who were exposed to high degree of traffic pollution were more likely to develop protein plaques in brain. The odds to develop Alzheimer's are high for people having APOE gene, a key genetic marker for Alzheimer's, if they are exposed to the higher degree of PM2.5. The odds become even higher for the people who don't have APOE gene if they are exposed to higher degree of ambient air pollution. 

FDA Advisors Recommends Third Alzheimer's Medication 
The advisory committee to the Food and Drug Administration on June 10, 2024 voted 11-0 to approve the third drug for Alzheimer's patients. Eli Lily's Donanemab is not a cure or even reverses the mind-robbing disease. Instead it's shown to slow down the cognitive decline in the early stages by almost 35% over 18 months. The FDA is not obliged to follow the recommendation of the advisory committee, but they often do. If FDA approves the Donanemab, it will be the third Alzheimer's drug approved by regulators. 

FDA Grants Approval to Eli Lily Drug Donanemab
Food and Drug Administration on July 2, 2024 granted approval to Donanemab

Muscle Building May Trigger Brain Health too, Research Finds
A research undertaken by the scientists from the Washington University School of Medicine in St. Louis and other institutions presented in a radiological conference in Chicago this month shows the benefit of "strength training" in brain health, according to an article published in the December 21, 2025, edition of The Dallas Morning News. The research looked at middle-age men and women and how training the muscle mass could enhance an younger brain. 
Earlier there was evidence of workout having beneficial effect on brain health. Research has shown mice producing a chemical, Brain-Derived Neurotrophic Factor, or BDNF, that is shown to produce new neurons in brain cells. Now, there is a distinct possibility that adding a strength training to cardio-vascular exercise regime has an additive effect on the brain health and facilitating a relatively younger brain as humans age. 
However, the visceral fat, a kind of deep belly fat, seems to do the opposite to the brain health. 


ARTIFICIAL INTELLIGENCE IN MEDICINE

AI Likely to Accelerate Clinical Trial for New Drugs 
A Farmers Branch-based pharmaceutical company, Praedicare, is using the Predictive AI to assess the viability of accelerating the timeline for new, promising drug approval process. Under the current mechanism, the first step is to develop a drug. The second step is to take the developed drug into a pre-clinical research, where it's tested in the animal or test tube model. If the drug proves out to be a not toxic, it goes to the FDA-approved clinical trial, involving four stages:

* STAGE I: Evaluate safety and dosage
* STAGE II: Evaluate efficacy and side effects
* STAGE III: Monitor adverse reactions in a larger participation pool
* STAGE IV: Evaluate safety and effectiveness using several thousand volunteers

Praedicare CEO Dr. Tawanda Gumbo made it his lifelong mission to cut down the time needed for the new drugs to go through the pipeline of pre-clinical research and clinical trial as part of the approval process. He also stressed on getting more precision out of the pre-clinical research and clinical trial findings by focusing on testing the drug on hollow fiber system (HFS)--involving human cells--compared to testing on animals. Praedicare's new drug, Ceftriaxone, is reported to have an 80% cure rate after using for six months, compared to an average of 43% cure rate under the existing 18-month, three-antibiotic regime to curate five Mycobacterium Avium Complex, or MAC, strains of the bacterial infection of human lungs. The Predictive AI model simplified and streamlined the pre-clinical research and the first two stages of the clinical trial by leveraging tens of thousands of simulation models in a record amount of time. FDA approved the HFS Model a decade ago to bring more precision to the pre-clinical research and clinical trial findings. Now, Praedicare is going to seek approval from FDA for Predictive AI Model that has yielded the same degree of precision as HFS Model, but in a significantly shorter timeframe. The finding has been reported in the The Journal of Infectious Diseases, according to a front-page article of the February 19, 2024, edition of The Dallas Morning News

AI to Detect Allergy More Precisely
The University of Texas Arlington researchers are at the forefront of making some epic-making discoveries on the Artificial Intelligence application aimed at precisely identifying the type of pollens, according to the June 20, 2025, edition of The Dallas Morning News. Their research, co-authored by UT Arlington's Behnaz Balmaki, an Assistant Professor of Biology, and Masoud Rostami, an Assistant Professor in Data Science, along with researchers from Virginia Tech and University of Nevada, Reno, was recently published in the journal Frontiers in Big Data. They explored nine different AI-based solution, but based on precision and performance, chose RESNET101 AI System
RESNET101 AI System can distinguish and identify six types of pollens from fir, spruce and pine trees--three morphologically similar conifer--with 99% accuracy. The model leverages 101 filtering layers to distinguish six tree pollens. 
The model development requires collecting as many as 400 grains for these six type of spruce, fir and pine tree pollens obtained from the University of Nevada's Museum of Natural History and placing them on a slide and taking a photo under microscope. Developing and using multiple filtering layers adds to the precision, but slows down the performance. The nine AI Models that researchers have tested out span in range from 201 layers to 18 layers. Eventually, the researchers made the final call for RESNET101 AI Model
The challenge is now to scale up the AI model to distinguish far large number of pollen types in the environment from various sources without sacrificing accuracy or performance. 

 

AUTISM

Latest Report Pegs Autism Rate at 1 in 44
Based on the data collected in 2018 from counties and sites in 11 states, Centers for Disease Control and Prevention on December 2, 2021 reported a higher rate of autism among the nation's children and  more children with the symptom getting detected earlier in life. The findings do not represent an actual increase in autistic children, instead reflecting the nation's increasing awareness about it and parents reaching out to seek diagnosis and treatments. The CDC analysis based on 2018 data shows an 1-in-44 autism rate compared to 1-in-54 rate back in 2016. The CDC analysis also shows that children are 50% more likely to be diagnosed in autism at the age of four in 2018 compared with 2014, implying wider coverage of network of autism services in 2018. The autism rate varies from state to state, with California (1-in-26) having better diagnosis and treatment services reporting higher autism prevalence rate than Mississippi (1-in-60)

CHILDHOOD-ONSET STRIATONIIGRAL DEGENERATION

Scottish Rite Geneticist Rewarded NIH Grant to Find a Treatment for a Rare Neurological Disorder
After showing promising results by using gene therapy, Director of Molecular Genetics of the Scottish Rite for Children in Dallas Jonathan Rios won a grant from the National Institute of Health to research a cure for Childhood-onset Striatonigral Degeneration, according to the March 31, 2025, edition of The Dallas Morning News
Childhood-onset Striatonigral Degeneration is known to be caused by a mutated version of the gene VAC14 on Chromosome 16. If a child inherits two copies of the mutated version of VAC14 gene, it may cause to create a holes in brain's neurons, with soap bubble-type of swelling filling those neurons. That can lead to a very fast deterioration of speaking ability and muscular dystrophy, which are fatal. 

CHOLESTEROL

Alternative to Statin Effective, Study Says, in Preventing Cardiac Problems
After a five-year study covering more than 14,000 patients, researchers found an alternative to Statin could be an effective remedy to treating the so called "bad" Cholesterol, or LDL, paving the way for patients with serious side effects from Statins such as Lipitor and Crestor to have another option. Nexletol lowers a group of major cardiac problems by 13%, including 23% reduced risk in heart attack. The study was funded by Esperion Therapeutics, maker of Nexletol. The findings were reported in the New England Journal of Medicine and presented at a meeting of the American College of Cardiology on March 4, 2023

CONCUSSION

UTSW Research Finds Artificial Turf Better than Grass Field
The Dallas Morning News has reported on September 7, 2024 in a front-page article that artificial turf may be better in reducing the impact of concussion than grass field. The research conducted by the researchers of the University of Texas Southwestern Medical Center focused on 62 Football players ages between 10 and 24 who had concussion from helmet-to-surface collision. 33 players sustained injuries on the grass fields, while 29 on the turf. What researchers have found is eye-opening. The players receiving concussion on the grass fields have shown, on the average, 10 symptoms associated with the concussion, while the players with injuries from turf have displayed 6 symptoms. Moreover, the severity of the symptoms such as blurred vision, noise sensitivity, feeling fogginess, difficulty remembering and state of confusion is far more serious in injuries received on the grass fields compared to those of artificial turfs. 

COW MANURE TO FERTILIZER AND PROTEIN FEED CONVERSION
The Department of Entomology of the Texas A&M recently has won a prestigious Department of Agriculture grant to study the effectiveness of how Black Soldier Fly larvae can decompose the cow manure. Texas is one the largest beef-producing as well as one of the largest diary states in the nation, thus producing abundant cow manure, a source of methane and other harmful emissions. According to The Dallas Morning News' January 6, 2024, editorial, Black Soldier Fly larvae may come as a savior to the rural communities and farm workers as people are forced to smell the miasma of manure as part of their job and lifestyle. Hopefully, this ground-breaking research will provide some sort of relief to them and transform a nuisance to nascent source of possibilities for sustainable farming. The Black Soldier Fly larvae do feast on manure and the byproduct resembles ground coffee that can be used in fertilizer. The larvae themselves gain weights and become a likely source of protein in the animal feedlot.  

DIABETES

GLP-1 Drugs Found Beneficial for Pregnancy
GLP-1 [Glucagon-like Peptide-1 receptor agonist] drugs such as Novo Nordisk A/S' Ozempic and Eli Lilly & Co's Mounjaro are known to treat diabetes and obesity of millions of people. However, little is known about their efficacy in mitigating the adverse impact of the Polycystic Ovary Syndrome (PCOS) on potential pregnancy. The Dallas Morning News reported on April 19, 2024 that with increased frequency it is found that PCOS-affected women who are taking GLP-1 drugs are having relatively easier pregnancy compared to those of who are dependent on insulin. 

Trio of Researchers Awarded for Pioneering Work Leading to Iconic Diabetes Drugs
Often serendipitous discoveries may entail to epoch-making innovation and iconic discoveries that sustain the path forward through humongous benefits to humankind to decades to come. The story of the evolution and maturity roadmap for GLP-1 [Glucagon-like Peptide-1 receptor agonist] drug falls one of such breathtaking and most profound success stories in the medical history. 
The Lasker Foundation on September 19, 2024 awarded the annual Lasker medical award in clinical category to trio of scientists who had devoted and dedicated more than five decades on the basic research related to diabetes and weight loss and subsequent discoveries that often came through serendipitous findings. The scientists named are (1) Joel Habener, a physician-investigator at Mass General Research Institute and Harvard Medical School professor; (2) Svetlana Mojsov, a chemist at Rockefeller University; and (3) Lotte Knudsen, a Novo Nordisk scientist. 
The genesis of the journey goes back to 1970s when Joel Habener has been focused on a hormone, Glucagon, and its impact on blood sugar. Habenar's team soon deciphered the genetic structure of Glucagon. The team ran into, quite serendipitously, a similar hormone, but that would work toward lowering the blood sugar. 
Soon Svetlana Mojsov, a colleague of Habenar's at Mass General, synthesized the active portion of what eventually came to be known as GLP-1. What she found was noteworthy and stunning: it not only lowers the blood sugar, but also psychologically transmits message of stomach being full. As she was researching the GLP-1 further, another scientist informed her that it worked fantastically in rats. Then Svetlana Mojsov and another scientist, David Nathan, expanded their research to human studies. Their joint publication in 1992 focused on the effectiveness of GLP-1 in lowering blood sugar. However, one handicap to scaling up this to sustainable level was GLP-1's ephemeral presence in human bloodstream.
Then came the last piece of puzzle from the Pharma intervention. It's all about scalability, stability and sustainability. Novo scientist Lotte Knudsen led research to find a slow-ejecting GLP-1 treatment that would eventually become the linchpin for megaprofit drugs Ozempic and Wegovy. Across the Atlantic, Eli Lilly built its own portfolio of GLP-1 drugs such as Mounjaro and Zepbound. According to research, the GLP-1 market is estimated to reach $100 billion in 2030.

Potential for New Therapy for Diabetic Pain Gets Brighter with Research Findings
The Dallas Morning News has reported a promising research evidence in its May 27, 2025, edition, pointing out a strong association between Peripheral Diabetic Neuropathy, a painful, burning or numbing condition on legs and feet, and damaged nerve cells in the dorsal root ganglia, which are located near spine and relay communications on pain to brain cells. In dorsal root ganglia, the so called Nageotte Nodules are found to be more likely to be mangled without restoration for diabetic patients. Scientists are trying to find a way forward to come up with a therapy that will suppress the pain communication from the damaged nerve cells to the brain.

EPILEPSY
SMU at the Center of SUDEP Research
Most of the people have little idea about the so called Sudden Unexpected Death in Epilepsy, or SUDEP, until the death of Disney Channel star Cameron Boyce in 2019. The symptom strikes 1 in 1,000 people and causes nearly 3,000 deaths a year. One of the most interesting and insightful researches in SUDEP has been published this month in the Brain Communication journal, according to The Dallas Morning News' February 18, 2025, edition. SUDEP stokes Epilepsy along with striking hard the breathing and cardiological functions, leading to increasing risks of fatalities. The research published in the Brain Communication has been conducted by SMU Biology Professor Edward Glasscock and Postdoctoral researcher Kelsey Paulhus.  
The research in mice showed neurons in the brain's Corticolimbic system--a combination of regions that include Neocortex (responsible for learning and consciousness), Hippocampus (learning and memory) and Amygdala (emotional processing)--lacking in a protein regulating electrical activity, called Kv1.1, might lead to higher propensity of SUDEP symptoms. 


FRIENDSHIP AND NEURO-BEHAVIOR
A research article authored by Lisa Feldman Barrett in the online journal of Nature Neuroscience strives to link the degree of social intimacy to the size of an area deep in the brain. The article dated December 27, 2010 argues that bigger the size of Amygdala, more likely the individual is to have keenness to have longing for more friends. However, it is not sure whether which one is likely to help set the trigger.

Strength of Love and Feeling likely to be Tied with Chemicals in Brain
The Dallas Morning News in a front-page article on February 12, 2023 reported that when someone has a strong cute feeling for a person they have met, a cascade of chemicals in the brain is released. These chemicals are known as neurotransmitters. One of the neurotransmitters is Dopamine which causes feelings of pleasure. Another neurotransmitter is Norapinephrim, which is associated with excitement and alertness.

Fear Factor: Research Points at Goldilocks Region in Brain
Fear is an overwhelming and impactful factor in human lives. It may alter human lives, family lives and community lives significantly. Fear phobia, anxiety disorder and PTSD affect a large number of people and may cause severe quality of life issues. The Dallas Morning News in its February 9, 2025, edition published a research on fear conducted by the University College London's Sainsbury Welcome Center.
The research was conducted on mice who had been threatened by an expanding shadow, mimicking the threat of a predator. Initially, rodents scrambled to seek shelter and hide. After 50 or so simulations, rodents ignored the threat and continued with foraging and running without showing any fear. The electronic neural probe inserted in the mammals' brains showed where those threat memories were shelved and unlearned. It's an area of the brain known as Ventrolateral Geniculate Nucleus, or vLGN, located between Neocortex, that identifies the threat, and Brain Stem, which activates body response. Previously scientists believed that the brain's Visual Cortex played a crucial role in suppressing the fear. Although that's still true, vLGN is the [unlearning] area of the brain where memories [of fear] are stored. 
The finding holds promise someday for medical researchers to come up with innovative therapies and intervention, targeting vLGN to treat fear phobia, PTSD and anxiety disorder. 

GENE EDITING AND GENE THERAPY

Rare Disease Slowed by Gene Editing
A rare disease that has affected a 9-and-1/2-month boy is shown to be thwarted by an innovative gene editing technology. A team of researchers from the University of Pennsylvania published the finding on May 15, 2025 in the New England Journal of Medicine. The boy has suffered from CPS1, or Carbamoyl Phosphate Synthetase 1, in which the body lacks an enzyme that purges ammonia from blood. Researchers leveraged CRISPR to orchestrate the so called "base editing" that flips the the mutated gene "letter". After the gene editing is performed in February 2025, the boy is now reported to be thriving.

Liver and Lung Rare Disease, Alpha-1, Antitrypsin Deficiency, May be Targeted by Gene Therapy
Tiny Lipid Nanoparticles, 100,000 times tinier than a paper, can be injected into bodies of mice to treat the Alpha-1, Antitrypsin Deficiency in liver and lung cells, according to the findings of a research, led by the UT Southwestern Medical Center scientists led by Dr. Daniel Siegwart, published last month in the journal Nature Biotechnology, The Dallas Morning News has reported in its July 12, 2025, edition. The research results hold tremendous promise for about 80,000 to 100,000 people in the U.S. affected per year by this rare liver and lung disease. 
The Alpha-1, Antitrypsin deficiency is known to have been caused by a mutation in a gene called the SERPINA1 gene. What researcher had done was to inject a load of Lipid Nanoparticles in the mice whose genes had been altered to have generated Alpha-1, Antitrypsin Deficiency. The load blobs targeted the affected cells and corrected 40% of the liver cells and 10% of the lung cells in the mice, a remarkable finding that has stirred enthusiasm and excitement in the innovative therapy. 
The Lipid Nanoparticles make up of four lipids: 
(1) Ionizable Aminolipid, that grabs onto the genetic cargo and delivers it inside the targeted cells
(2) Cholesterol
(3) Phospholipid, borrowed from the early days Liposomes, discovered in the 1960s and considered the precursor of Lipid Nanoparticles
(4) Polyethylene Glycol-Lipid that facilitates the stability of nanoparticles and improves how they travel through the body
However, one flip side is that these four lipids that combine to form Lipid Nanoparticles have natural tendency to travel and coalesce in the liver, which is good for liver, but not so much for other organs such as lung. That's where Dr. Daniel Siegwart played another innovation powerplay. Adding the Lipid Nanoparticles with a fifth lipid--DORI--that has transformed the trajectory of nanoparticles to have a beeline to the lungs, bypassing entirely the liver. 
The next phase of the research hopefully will focus on humans in its quest to scale up and size up a gene therapy that is going to remediate tens of thousands of patients living with one of the rare genetic diseases, Alpha-1, Antitrypsin Deficiency.



GENOME DECODING

Full Genome Coding Unveiled
A research paper published on March 31, 2022 in the journal Science claimed that scientists were able to decode human genome in its entirety almost two decades after the human genome had been unveiled as part of the Human Genome Project. At that time, about 8% of the human genome decoding remained incomplete. Now, the scientists have a clear insight into the full spectrum of genetic composition of the human. The human genome is made of 3.1 billion DNA subunits, pairs of chemical bases designated by A, C, G and T. Genes are strings of these lettered pairs that contain the instruction to create Protein, basic building block of human cells. There are 30,000 genes organized in 23 groups called the Chromosomes that can be found in the nucleus of each human cell. 

HEARING

Chemical Associated with Hearing Loss Identified
The University of Pittsburgh researchers may have found the causal factors behind human hearing loss, and that may be related to the accumulation of "labile" Zinc in the inner ear. According to a paper published on February 12, 2024 in the Proceedings of the Natural Academy of Sciences, mice have been exposed to 100 decibels of sound for two hours and experimenters have tracked the mice's "labile" Zinc in the inner ears. They have found a post-noise bump of a "huge dysregulation of zinc signaling". 
In the next step, researchers injected the experimental group of the mice a couple of days before the noise test with a solution gel that would chelate zinc aimed at trapping the accumulated zinc to prevent them from free-floating inside the ear. The mice who received the "chelate gel" could hear significantly better than the group who didn't receive it, based on the electrode auditory response measurement after the mice--both in experimental and control groups--had been exposed to 100 decibel of sound for two hours. 

HEART TRANSPLANT

First Transplant of Pig Heart in Human
In the first ever, hopefully successful, animal-to-human transplant, also known as Xenotransplantation, the heart from a genetically modified pig was implanted in a dying man, 57-year-old David Bennett. The transplant was performed by Dr. Bartley Griffith, a distinguished professor at the University of Maryland Medical Center. The medical team took more than seven hours to perform the transplant on January 7, 2022. On January 10, 2022, a statement was issued on behalf of the medical center, saying that Mr. Bennett was doing well. If Mr. David Bennett continues to improve, it will herald a new era of organ transplant. Previously, xenotransplantation was tried, but human bodies had rejected those organs. Most notably, in 1984Baby Fae, a dying infant, survived 21 days with a baboon heart. But this time, it is different as the pig used for heart transplant has to go through the gene-editing process to remove a sugar in its cells that's responsible for hyper-fast organ rejection. The organ came from Revivicor, a division of United Therapeutics

Bennett Dies 
David Bennett, who made news after receiving a curated pig's heart in January 2022 and apparently was doing well in the aftermath of the transplant, died on March 8, 2022. The surgeon who led the transplant surgery, Dr. Bartley Griffith, issued a statement on March 9, 2022, calling Bennett "a brave and noble patient who fought all the way to the end". 

Second Patient to Receive Pig Heart Transplant Reported Doing Well after a Month
Lawrence Faucette became the second patient to receive a highly genetically modified heart from a pig. The surgeons at the University of Maryland Medical Center on September 20, 2023 performed the highly experimental procedure to implant a pig heart in Faucette. The first patient to receive xenotransplantation died after two months. Although the exact cause for the death of David Bennett was not known, there were traces of virus found in his transplanted heart. That gave some lessons in terms of better full-proofing the process with more precise virus testing and other improved protocols in the second xenotransplantation
On October 20, 2023, a month after the transplantation, a video of a relatively healthy Lawrence Faucette was released by the medical center. The head of the transplantation team, Dr. Muhammad Mohiuddin, said that Faucette's "heart is doing everything on its own". 

Faucette Dies Six Weeks After Pig Heart Transplant
Lawrence Faucette passed away six weeks after a successful transplant of pig heart into his body, according to a statement issued on October 31, 2023 by the University of Maryland Medical Center

KIDNEY TRANSPLANT

Successful Pig Kidney Transplant in Human
Massachusetts General Hospital doctors on March 16, 2024 made a historical leap in advancing the pig-to-human organ transplantation as they performed a four-hour medical procedure to transplant a genetically edited pig kidney into Richard Slayman

LARYNGEAL TRANSPLANT

Nation's Third Voice Box Transplant Deemed a Success
On February 29, 2024, six surgeons at the Mayo Clinic in Phoenix, Arizona carried out an hours-long surgery to replace a cancerous Larynx with a healthy one donated from a deceased person. The Mayo Clinic Proceedings reported the scientific novelty and medical miracle on July 9, 2024. The laryngeal transplantation is very rare, and prior to Massachusettsian Marty Kedian's surgery, there were only two other known laryngeal transplants: at Cleveland Clinic in 1998 and University of California in 2010. In both cases, the subjects lost the functions of their voice box due to injury. 
The surgery involves removing the ailed organ, planting a healthy larynx and adjoining tissues, including thyroid, parathyroid glands, pharynx, upper part of trachea and tiny blood vessels. 

LEAD POISONING

46% Bald Eagles Suffer from Lead Poisoning
A new research published in the journal Science on February 17, 2022 provides the insight into scale of lead poisoning in our biodiverse ecosystem. Our national bird, Bald Eagle, is the latest victim to lead poisoning, the lingering effect even decades after DDT has been banned as pesticide in 1972. Between 2010 and 2018, scientists obtained samples from 1,210 Bald Eagles to run tests on blood specimen from live eagles as well as on feathers, bones, or livers from dead eagles, and found an astonishingly high proportion of 46% of Bald Eagles suffering from lead poisoning. 



MALARIA

COVID-19 Vax Co-maker to Begin Trial on Malaria Vaccine
By leveraging the mRNA platform, BioNTech is targeting malaria that has infected, according to the World Health Organization, 229 million people worldwide and killed about 409,000, 67% of them are children of age 5 and under, in 2019. BioNTech CEO Ugur Sahin said that the company would soon start a clinical trial for an mRNA vaccine for Malaria. BioNTech is already working on HIV and TB, and now it is going to add a third vaccine portfolio in addition to Coronavirus vaccine. However, vaccine against malaria will be trickier as the Plasmodium genome is more complex than virus genome. Plasmodium is the parasite responsible for Malaria in humans. 


It is encouraging to see the news coming from the American Heart Association conference in Chicago that there is a potential new cholesterol drug Anacetrapib that may not only lower the LDL levels, it also increases the HDL levels. Most of the Statin drugs including Lipitor and Zocor lower LDL. The results on Merck and Co.'s bumper drug have been presented at the conference on November 17, 2010.

Polypill + Aspirin Cut Heart Risk by One-third
A research published in the New England Journal of Medicine on November 13, 2020 highlighted the benefit of polypill in reducing the heart risk when taken along with aspirin. Polypills are cheap combo blood pressure and cholesterol drugs. Dr. Salim Yusuf of McMaster University, Ontario, who led the 7-year study, called the results promising and cost-effective way to treat for patients in “all sensible countries”. The duration of the study was cut short to over four years because of Coronavirus pandemic. The trial has involved Polycap, a pill manufactured by an Indian pharmaceutical company, Cadila Pharmaceutical Ltd., that contains three blood pressure drugs—Ramipril, Atenolol and “water pill” Hydrochlorothiazide—and one statin that treats cholesterol. Researchers enrolled more than 5,700 people, primarily from India and Philippines as well as Bangladesh, Malaysia, Colombia, Indonesia, Tanzania, Tunisia and Canada. The enrollees have been divided into groups: (1) getting only low-dose aspirin (75 milligrams), (2) Polycap and aspirin, (3) only Polycap, and (4) Placebo pill. In this double-blind study, Polypill alone showed modest benefit, but combo plus aspirin demonstrated the maximum benefit, with reduction in heart problems and deaths by almost 31%.

Genetic Engineering Reported to Cure Cancer
Ten years after treating leukemia with a novel treatment method, it seems that the cancer has been cured altogether for Doug Olson, according to the February 2, 2022, edition of the journal Nature. In 2010, Olson was given a novel gene therapy, CAR-T cell therapy. As part of this innovative treatment, T cells were obtained from the patient's blood. T cells are White Blood cells which are key to body's immune system. Scientists genetically engineered the T cells and infused these modified T cells into the patient's body through IV. These modified cells then worked as cancer cell killers. After 10 years, Olson's leukemia was absolutely cured. CAR-T cell therapy experiment has been carried out by the researchers from the University of Pennsylvania

SHINGLES

Shingles Vaccines Found to Cut Dementia Risk
What could be an additional benefit for people in America older than 50 years for whom the public health recommendation is to roll up the sleeves to get Shingles vaccination? A new study released on April 2, 2025 in the science journal Nature shows that the vaccine cuts the risk of dementia by 20%. The study is carried out with the first generation of vaccine among the people around 80 years old in Wales. 

VISION
Nacuity Focused on Cutting-edge Vision Technology to Help Eye Health
Nacuity Pharmaceuticals Inc. on June 15, 2022 has announced $16.5 million in new funding to support the  Clinical Trials I/II for two categories of patients: (1) Retinitis Pigmentosa patients with Usher Syndrome and (2) patients with Vitrectomy, a kind of surgery that requires removing Vitreous Humor to reach retina. Nacuity is in the middle of a very comprehensive and complex trial to assess how NPI-002 implant works. 

VITAMIN C

Researchers Find Plausible Reasons of Why Humans Can't Produce Vitamin C
The Dallas Morning News reported in its January 10, 2026, edition, based on a research article published in the Proceedings of the National Academy of Sciences, that the researchers might have found a reason of why Vitamin C production mechanism had been abolished in the human body. There might have been an evolutionary process that had led to humans stopping Vitamin C production eventually. This may be linked to a specific class of parasitic infection. Schistosomes, a class of parasitic worms responsible for Schistosomiasis disease, can lay eggs and thrive under the presence of Vitamin C. 

Scientists infected Vitamin C-deficient mice and normal mice with Schistosomes. They observed that the worms in the Vitamin C-deficient mice did struggle to lay eggs while there were smooth egg-laying process in the normal mice. The finding explains why humans might have stopped producing Vitamin C as part of the evolution to ward off attack by Schistosomes