GENETICS BRINGS HOPE AND CHEER FOR 2024

2023 has been a tragic year with murderous conflicts between Russia and Ukraine as well as Israel and Hamas spreading to some other neighbouring regions too. We have witnessed severe droughts and floods caused by climatic changes brought about by humanity’s excessive consumption of fossil fuel and other natural calamities such as killer earthquakes in Turkey and elsewhere. Migration of peoples leading to tragic drownings and refugee crises in the USA and Europe were another source of tragedies. People all over the world have lost their buying power due to high inflation and dramatic price increases leading to an increased poverty level.

Amidst all this depressingly devastating news, the one ray of hope, sunshine and joy for humanity has been provided by science and more specifically genetics.  For the first time ever, in 2023, a revolutionary therapy has been approved by the authorities in USA and Europe that makes a dream come true: the application of CRISPR/Cas9 gene splicing technology to cure the debilitating inherited diseases Sickle Cell and Beta Thalassemia.

Our red blood cells are essential to transport oxygen to all the organs and tissues of the body. Sickle cell disease (SCD) is an inherited blood disorder that affects the red blood cells, which are essential for carrying oxygen to all organs and tissues of the body. A mutation in both copies of the haemoglobin beta (HBB) gene on chromosome 11 inherited from carrier parents i.e. the parents carry a mutation in only one copy, makes the red blood cells rigid and hampers the transport of oxygen. The disease causes anemia, severe pain, organ failure and premature death.

Beta Thalassemia caused by a similar mutation causes anemia, jaundice, fatigue and shortness of breath.

As a first therapy of its kind, CASGEVY™ (exagamglogene autotemcel [exa-cel]) launched by Vertex Pharmaceuticals Incorporated and CRISPR Therapeutics, is made specifically for each patient, using the patient’s own edited blood stem cells, and increases the production of a special type of hemoglobin called hemoglobin F (fetal hemoglobin or HbF) that is present at the fetal stage but disappears after birth. Thus, it does not directly undo the mutation on chromosome 11 but overcomes the problem via hemoglobin F synthesised by the patients own stem cells modified via CRISPR/Cas9 for this purpose.

The patient’s blood is taken in hospital, the stem cells are isolated and edited using CRISPR/Cas9 in a laboratory and subsequently administered to the patient during a one-time infusion.

There are many other CRISPR/Cas9 - based therapies in the pipeline designed to cure different types of cancers and other mutation-induced diseases. We can be hopeful that genetics will bring more good news and cheer in 2024. 

A very happy and healthy NEW YEAR 2024 to all the readers of my blog.

Early diagnosis of cancer using a simple blood sample combined with A.I.

It is well established that the earlier cancer is detected, the higher the chances of successfully treating a patient. A methodology using a simple blood sample combined with Artificial Intelligence to achieve this is now proven but will need to be tested in clinical trials and will probably take some years till it can be widely introduced as a diagnostic tool. 

A team headed by G. V. Shivashankar, (Mechano-Genomic Group, Division of Biology and Chemistry, Paul-Scherrer Institute, Villigen, Switzerland / Department of Health Sciences and Technology, ETH Zurich, Zurich, Switzerland) have shown that using a simple blood sample combined with Artificial Intelligence can detect cancerous tumours as well as distinguish between three tumour groups with a combined precision of about 85%: 

 "....chromatin imaging of PBMCs combined with machine learning methods provides such robust and predictive chromatin biomarkers. We show that such chromatin biomarkers enable the classification of 10 healthy and 10 pan-tumor patients. Furthermore, we extended our pipeline to assess the tumor types and states of 30 tumor patients undergoing (proton) radiation therapy. We show that our pipeline can thereby accurately distinguish between three tumor groups with up to 89% accuracy and enables the monitoring of the treatment effects. Collectively, we show the potential of chromatin biomarkers for cancer diagnostics and therapy evaluation." 

https://www.nature.com/articles/s41698-023-00484-8

What is death?

https://www.technologyreview.com/2023/11/17/1082937/what-is-death/

LIFE ON ANOTHER PLANET: Just a matter of time

The presence of water, and a chemical only produced on earth by life has been identified by NASA’s James Webb Space Telescope in the exoplanet K2-18 b: 

"These initial Webb observations also provided a possible detection of a molecule called dimethyl sulfide (DMS). On Earth, this is only produced by life. The bulk of the DMS in Earth’s atmosphere is emitted from phytoplankton in marine environments". 

Access to the article with the link below: 

https://www.nasa.gov/goddard/2023/webb-discovers-methane-carbon-dioxide-in-atmosphere-of-k2-18b

The discovery of life in an another planet is not a matter of "if" but "when". It is just a matter of time. 

Our human ancestors nearly became extinct 900,000 years ago due to climatic upheavals

 https://cosmosmagazine.com/history/palaeontology/human-ancestor-bottleneck/

EARTH BIOGENOME PROJECT

https://www.newyorker.com/science/elements/the-race-to-save-the-worlds-dna 

MY ORIGINS (as found by Family Tree DNA)

Humans have 23 pairs of chromosomes: 22 autosomal and one pair of sex chromosomes. The autosomal chromosomes that are inherited from both the paternal and maternal lines and therefore provide a rich source of information on our total inherited ancestry. 

A customer can get his or her autosomal chromosomes tested by Family Tree DNA FTDNA and get a copyrighted report from DNA on one's deep origins. The following is the copyrighted FTDNA report on my origins and confirms that they are deeply linked with the Indus Valley Civilisation and the ensuing migration from the Harappa region after its fall as I have described in detail in my book The Last Prabhu. 

The report finds my origins to be 98% Central/South Asian broken down into 45% Central Asia and 53% South Central Asia.  There is a trace amount of East Central Africa, probably remnants from the first humans who migrated out of Africa and a trace amount from Oceania that may be simply background noise.

 

Central Asia

45%

The Central Asia cluster consists of present day Pakistan, Kashmir, Northern India, and Western Nepal. Trade was a paramount factor for populations and civilizations in this cluster, not only facilitating growth, but also aiding in the downfall of some of the large civilizations in Central Asia.

The extensive history of conquest and trade between the Central Asia cluster and surrounding populations has resulted in shared similarities with populations of the Middle East, and Europe. However, for thousands of years, populations in Northern India remained linguistically, technologically, and genetically divergent from populations in South India until a shift in interaction roughly 4,200 years ago.

One of the early societies of this region is the Indus Valley civilization of Harappa, which experienced both a rapid growth as well as a swift fall; both of which may largely be attributed to changes in trade with other civilizations – namely along the Persian Gulf, and the Mesopotamian cities of Sumer and Elam. The enormous size of Harappa (500,000 sq.km at its most mature) necessitated trade, as the urban centers were located on floodplains and were almost completely devoid of raw materials. Harappa lasted from 2600 – 1900 BCE and is credited with its standardization of script (which has yet to be deciphered), urban planning, and even a common weight series.

Invasions and conquests from Persia in 516 BCE, and Alexander the Great two centuries later, left lasting imprints in this region and contributed to the genetic and cultural heritage of Central Asia. Following Alexander the Great’s conquest, warring kingdoms along the Ganges valley in Nepal were unified and the Mauryan Empire spread in all directions. The Mauryan Empire remained the leading force in Central Asia from 325 – 185 BCE, and maintained regular contact with populations in the Persian Gulf, the Red Sea, and Mainland China. The trade routes discovered by the Mauryan Empire are still in use today, as they were the first to exploit the monsoon winds of the Indian Ocean, connecting them to the Roman empire.

South Central Asia

53%

The South India cluster is comprised of present day Southern India, and Sri Lanka. Until roughly the 6th millennium BCE, Peninsular India and Sri Lanka were connected by land. Modern humans arrived in this region roughly 34,000 years ago. However, complex societies did not develop until much later, and much of the ancient history of the South India cluster is comprised of smaller, largely egalitarian and sometimes mobile communities.

In present day context, this cluster is intimately connected to the Central Asian cluster; however, early divergence between the Central Asia cluster and the South India cluster is evident until roughly 4,000 years ago, and is typically divided by the Narmada River. This division is further encouraged by the use of different language families, as well as a staggered timeline for both the adoption of farming practices, and the admixture of Indo-European influence between these regions. The end of this division coincides with the fall of the Indus Valley civilizations, as well as increased trade with Roman sailors. This suggests that these two populations were culturally isolated from one another until this fall, with civilization centers moving east and south to the Ganges, thus facilitating interaction between these two clusters.

Ancient populations in the South India cluster spoke languages from the Dravidian family, a family of languages that is not found outside of Southern Asia. Smaller agrarian and pastoral communities who are known for their complex megalithic tombs, dominated in this cluster until roughly the 1st century CE when Roman traders in the Indian Ocean appeared. This cultural convergence opened the South India cluster up to intensified international trade, which was further encouraged with participation along the Silk Road.

With increased trade and urbanization, the South India cluster witnessed its first large civilization – the Satavahana dynasty which lasted from 27 BCE to the 3rd century CE. All rulers of this dynasty are recognized as having participated in trade along the Silk Road, further solidifying the importance the Silk Road played on the rise and fall of ancient civilizations.