A rare genetic disorder carries her name. Her research has helped scientists understand how human cells control their genes, and her leadership has taken her to the highest ranks of one of the world's most prestigious research organisations.
For Professor Dr Asifa Akhtar, the journey began in Karachi, where she was born in 1971, long before she became an internationally recognised molecular biologist and one of the leading figures in European scientific research.
Now serving as Vice President of the Biology and Medicine Section of Germany's Max Planck Society and Director of the Department of Chromatin Regulation at the Max Planck Institute of Immunobiology and Epigenetics in Freiburg, Akhtar has built a career around a deceptively simple question: how do cells containing essentially the same genetic instructions develop and perform such different functions?
Her scientific contributions have helped illuminate the mechanisms that regulate gene activity, advancing research into developmental disorders, cellular biology and the molecular processes associated with diseases such as cancer.
In March 2026, Germany's state of Baden-Württemberg recognised those contributions by awarding her its Order of Merit, one of the state's highest distinctions.
The recognition follows a remarkable series of honours, including her election as a Foreign Member of the Royal Society in 2025, the FEBS–EMBO Women in Science Award and Germany's Gottfried Wilhelm Leibniz Prize.
Yet one of the most significant measures of her scientific impact is found not in an award citation, but in medical genetics: Basilicata–Akhtar syndrome, an extremely rare inherited-genetic disorder whose underlying mechanism was identified through collaborative research involving her laboratory.
A rare genetic syndrome bearing her name
Basilicata–Akhtar syndrome is an exceptionally rare X-linked neurodevelopmental condition associated with disease-causing variants in the MSL3 gene.
The disorder is characterised by developmental delays beginning in infancy and may involve intellectual disability, muscle weakness or reduced muscle tone, feeding difficulties, speech impairment and neurological abnormalities.
Its scientific significance extends beyond the small number of patients identified worldwide.
The disorder demonstrates how abnormalities in the molecular systems responsible for regulating gene expression can disrupt human development, linking fundamental research in epigenetics to the clinical understanding of rare diseases.
In September 2018, a collaborative international research team published findings in the journal Nature Genetics identifying the relationship between previously unrecognised developmental abnormalities and mutations in MSL3.
The study, led by researchers including M. Felicia Basilicata and Asifa Akhtar, examined how these genetic changes disrupt an important chemical modification of proteins associated with DNA.
The condition subsequently became known as Basilicata–Akhtar syndrome, acknowledging scientific contributions associated with its characterisation.
The association between MSL3 and the disorder has since been recognised by established medical genetics resources, including ClinGen and the US National Center for Biotechnology Information.
Importantly, the discovery does not mean that a cure has been developed. Its value lies in establishing a clearer molecular explanation for the condition, supporting genetic diagnosis and providing a foundation for future research into possible treatments.
For Akhtar, whose laboratory has spent years studying the molecular machinery of gene regulation, the finding demonstrates why basic biological research matters to medicine.
From Karachi to the laboratories of Europe
Akhtar's interest in biology began during her school years.
Born in Karachi, she spent parts of her upbringing in Pakistan, Abu Dhabi and Paris before moving to Britain for university education.
She initially considered a career in medicine but became increasingly interested in the fundamental biological processes operating inside cells.
Rather than focus directly on treating disease, she chose to investigate the molecular mechanisms that make living organisms function.
She completed a Bachelor of Science in Biology at University College London in 1993, followed by doctoral research at the Imperial Cancer Research Fund in London.
Working under Professor Richard Treisman, she investigated transcriptional regulation — the processes that determine how genetic information is used by cells — and completed her doctorate in 1997, according to her more recent institutional biographies.
The Imperial Cancer Research Fund's research operations subsequently evolved through Cancer Research UK's London Research Institute and became part of the Francis Crick Institute.
Akhtar then moved to Germany, where she pursued postdoctoral research at the European Molecular Biology Laboratory (EMBL) in Heidelberg, working in the laboratory of Professor Peter Becker, and at the Adolf Butenandt Institute in Munich.
In 2001, she returned to EMBL Heidelberg as a group leader, taking an important step towards establishing an independent research career.
Her laboratory moved to the Max Planck Institute of Immunobiology and Epigenetics in Freiburg in 2009.
Four years later, in 2013, she became a Scientific Member and Director, heading the institute's Department of Chromatin Regulation.
The appointment placed her among the senior researchers responsible for advancing scientific work at one of Germany's leading centres for fundamental biological research.
Understanding how genes are switched on and off
At the heart of Akhtar's work is epigenetics, the study of mechanisms that influence gene activity without changing the underlying DNA sequence.
Human cells generally carry the same genetic blueprint, yet a nerve cell behaves differently from a liver cell or a skin cell.
One reason is that cells use different parts of their genetic instructions.
Epigenetic mechanisms help determine when and where particular genes are active, allowing cells to develop specialised identities and carry out essential functions.
Akhtar's research focuses on chromatin, the combination of DNA and associated proteins that helps organise genetic material inside the cell.
Her laboratory has made important contributions to understanding MOF, also known as KAT8, an enzyme involved in modifying proteins called histones and regulating access to genetic information.
Another major focus is dosage compensation, the biological process that balances the activity of genes carried on the X chromosome.
Because males and females have different numbers of X chromosomes, organisms require mechanisms to regulate gene expression appropriately.
Akhtar's studies, particularly those involving fruit flies, have helped explain how molecular complexes and regulatory RNA molecules contribute to that balance.
Her laboratory has also demonstrated that some of these regulatory proteins perform functions beyond chromatin and gene expression, including roles connected with mitochondrial activity and cellular metabolism.
These discoveries are relevant to understanding how failures in gene regulation may contribute to developmental abnormalities and disease.
They have also helped establish Akhtar as an important international researcher in chromatin biology and epigenetics.
In a profile published by Nature Index, Iain Mattaj, former Director General of EMBL, described Akhtar as a scientist known for pursuing original questions in a highly competitive research field.
Breaking barriers at the Max Planck Society
Akhtar's contribution has extended beyond laboratory research.
On July 1, 2020, she became the first international woman to serve as Vice President of the Max Planck Society's Biology and Medicine Section.
The appointment marked a significant leadership milestone within one of Europe's most influential scientific organisations.
Founded in 1948 as the successor to the Kaiser Wilhelm Society, the Max Planck Society conducts fundamental research across the natural sciences, life sciences, social sciences and humanities.
The organisation currently counts 31 Nobel laureates across its history and that of its predecessor, reflecting its longstanding contribution to major scientific discoveries.
As Vice President, Akhtar helps guide the Biology and Medicine Section, contributes to institutional leadership and supports the development of research careers and scientific opportunities.
She was re-elected for a second term in June 2023.
Her leadership priorities include strengthening diversity, improving career pathways for younger researchers and reducing barriers facing women in science.
She has supported initiatives designed to improve mentoring, encourage international recruitment and make scientific leadership more accessible.
These efforts reflect a central belief that scientific excellence depends not only on individual achievement, but also on the environment in which researchers are able to work.
As she explained in a Max Planck Society interview:
“My heart beats for the young scientists!”
The commitment has also produced measurable results.
According to the Max Planck Institute, nine former junior researchers from Akhtar's laboratory, six of them women, have gone on to establish their own independent research groups.
Germany's €2.5 million Leibniz Prize
One of the defining moments of Akhtar's career came when she was selected for the 2021 Gottfried Wilhelm Leibniz Prize, widely regarded as Germany's most prestigious research funding award.
The German Research Foundation (DFG) selected ten researchers from 131 nominations for that year's awards.
Each recipient was allocated €2.5 million in research funding, with substantial freedom to pursue scientific work over a period of up to seven years.
Akhtar was recognised for her pioneering contributions to understanding epigenetic gene regulation, including the molecular mechanisms governing X-chromosome activity.
The award acknowledged discoveries that have advanced understanding of fundamental biological processes and their relationship to human health and disease.
For Akhtar, the honour also reflected the collective effort of the scientists who had worked in her laboratory over the years.
Rather than treating her achievements as the work of one individual, she has consistently acknowledged the contributions of her colleagues and students.
From the Royal Society to Germany's Order of Merit
Akhtar's international recognition has continued to grow.
Her early distinctions included the European Life Science Organization's Early Career Award in 2008, election to the European Molecular Biology Organization (EMBO) in 2013 and the Feldberg Prize in 2017.
In 2019, she became a member of the German National Academy of Sciences Leopoldina.
She subsequently received the Leibniz Prize in 2021 and the Ellis Island Medal of Honor in 2023.
In 2025, she was recognised with the FEBS–EMBO Women in Science Award, honouring both her scientific discoveries and her commitment to improving opportunities for women in research.
The same year, she was elected a Foreign Member of the Royal Society, Britain's historic national academy of sciences.
Membership recognises internationally distinguished scientists who have made substantial contributions to scientific knowledge.
Her election placed her within a scientific institution whose membership has historically included figures such as Isaac Newton, Charles Darwin and Stephen Hawking.
Most recently, on March 27, 2026, Baden-Württemberg's Minister-President Winfried Kretschmann presented the state's Order of Merit to distinguished individuals, including Akhtar, in recognition of their exceptional contributions.
For Akhtar, the honour acknowledged not only her scientific achievements but also her role in developing Freiburg as an important centre for epigenetics research and supporting the next generation of scientists.
A scientific journey with a message for Pakistan
Although Akhtar's professional career has largely unfolded outside Pakistan, her origins remain an important part of her personal story.
In an earlier interview with Dawn, she recalled her childhood experiences in Karachi and the importance of family support in allowing her to pursue an academic career.
She also reflected on the difficulties that women can encounter when professional ambitions are weighed against social expectations and family responsibilities.
Her experience illustrates the value of allowing young people, particularly girls interested in science, to pursue demanding and unconventional academic pathways.
The path from studying biology to leading a molecular research laboratory can take many years, often without certainty of professional recognition.
Akhtar's career demonstrates how such long-term scientific commitment can lead to discoveries with consequences far beyond the laboratory.
It is also a reminder that important advances in medical science frequently begin with questions that have no immediate clinical application.
Research into how genes are regulated may appear distant from the everyday practice of medicine. Yet discoveries about these fundamental mechanisms can eventually help explain why diseases develop, how they might be diagnosed and where future therapeutic approaches could emerge.
For Pakistan's scientific and medical community, Akhtar's achievements offer an example of the international contribution that researchers of Pakistani origin can make to biomedical knowledge.
Her legacy already extends across scientific discoveries, institutional leadership, international honours and the careers of researchers she has mentored.
And in the increasingly complex field of medical genetics, that legacy has acquired a particularly lasting recognition.
A rare human disorder now carries the name Basilicata–Akhtar syndrome — linking the scientific contributions of a Karachi-born researcher to the continuing effort to understand some of medicine's most challenging developmental diseases.
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