Dr. Charles Scriver was a pioneer of medical genetics

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The Volkswagen Beetle carrying a young Charles Scriver and his family was suddenly sideswiped by a vehicle that drove off without stopping. The hit caused the Beetle to roll over into oncoming traffic.

Dr. Scriver, at age 31, believed his life was about to end, right there on the highway between Montreal and Quebec City. He called out to his wife, his children – or, as he put it, to whomever was listening – what might have been his last words.

“It’s been great,” he said.

His utterance was followed by a sense of profound stillness, which he’d later compare to T.S. Eliot’s “the still point of the turning world.”

When the danger passed, he took in the scene. The family car was upside down. The windows were broken. But he and everyone else were miraculously alive.

For the doctor, it was a defining moment.

“I realized that I had been given another chance, and I’d better use the rest of my life,” Dr. Scriver said in a video, recorded for his induction into the Canadian Medical Hall of Fame in 2001.

He wasted no time. Later that same day, he went on to write his accreditation exams in pediatrics in Quebec City, which had been the purpose of the near-fatal road trip. And in the years and decades to come, he poured his energy into improving the lives of children and their families across Canada and beyond.

Dr. Scriver was a pioneer of medical genetics. Over the course of his career, he conducted ground-breaking research into the causes and treatments of inherited metabolic disorders, pushed for the addition of vitamin D in milk in Quebec to prevent rickets, set up community screening programs for genetic diseases and set in motion the Human Genome Project, earning him international recognition. The Canadian Medical Hall of Fame called him “the father of modern genetics in Quebec.” He died on April 7 at the age of 93.

Colleagues and family members remember him for his kindness, gratitude, intellect and curiosity, which extended beyond science into music, literature, theatre and photography.

“He was a Canadian icon,” said David Rosenblatt, the Dodd Q. Chu and Family chair in medical genetics at McGill University. “The best of the best.”

Charles Robert Scriver was born in Montreal on Nov. 7, 1930. He was the only child to doctors Walter Scriver and Jessie Boyd Scriver (née Boyd). His mother, known by many as “Dr. Jessie,” was among the first female medical school graduates at McGill. She was also the first female pediatrician in Montreal, first female head of pediatrics at the Royal Victoria Hospital, and first female president of the Canadian Paediatrics Society. Her emphasis to “treat the patient, not the disease” later became the model for her son’s approach to medicine.

When Dr. Scriver was a child, family dinners were frequently interrupted by the telephone they kept at their table, which often led to one of his parents dashing off to the hospital, or out to make a house call.

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At Lower Canada College, he was taught by teachers who ordinarily worked at the postsecondary level, but found themselves teaching high school when their university students went off to war. From them, he learned Latin and developed a love of poetry.

He earned his undergraduate degree at McGill University in geography and comparative literature, before switching gears to study medicine. He didn’t believe he would get into medical school, but applied anyway at the encouragement of his future wife Esther Peirce, known as Zipper.

He and Zipper met at the ages of 16 and 15 respectively. Their parents knew each other, as Zipper’s father was chief of radiology at the Royal Victoria Hospital. Urged by his parents, a reluctant Charles showed up at a coming-out party for Zipper’s older sister – an event he attended straight after playing basketball. As he was not wearing the proper attire for the occasion, he stayed in the kitchen with Zipper, who was helping her mom with the party.

“That’s how they connected,” their son Paul Scriver said.

The two married in 1956, the year after Dr. Scriver graduated from McGill with a medical degree cum laude. Zipper was a nurse. They had four children.

According to their daughter Julie Scriver, he often mentioned he couldn’t have accomplished his life’s work without his wife; she was his anchor.

Dr. Scriver continued his training at the Children’s Hospital at Harvard Medical School and at the laboratory of Charles Dent at University College, London. Returning to Montreal, he brought with him the techniques of using amino acid chromatography, which opened the door to new discoveries about metabolic disorders.

He joined the medical faculty at McGill in 1960, and founded the DeBelle Laboratory for Biochemical Genetics at the Montreal Children’s Hospital, where he established himself as a leader in biochemical genetics, focusing on the study of inherited disorders called inborn metabolic errors.

As Dr. Scriver told McGill’s Health e-News publication in 2017, when he started at the university, the general understanding was that genetic diseases are like stamp collecting: “They’re odd things, so why bother about them because you can’t do anything about them.”

His discoveries proved otherwise.

The team he assembled was diverse, with different skills and interests. According to Dr. Rosenblatt, who was an undergraduate student when they met and worked in Dr. Scriver’s lab, he cared more about a person’s abilities than their credentials on paper. He worked closely with Caroline Clow, who had no formal training in genetics but was nonetheless a strong researcher. Having lost a child of her own, she was sensitive to the suffering of families of sick children. Together, they and other lab members put together screening programs for hereditary illnesses and advanced what he called “community genetics,” combining genetics, medicine and public health.

In collaboration with teaching hospitals across the province, he and his team helped establish the Quebec Network of Genetic Medicine in 1969, a newborn screening program to identify and provide early treatment for congenital disorders that became a model internationally.

That same year, after discovering vitamin D deficiency was the cause of rickets among poorer children who were fed milk instead of infant formula, Dr. Scriver enlisted the help of Arnold Steinberg of Steinberg’s grocery chain to demand that Quebec milk suppliers add vitamin D to their product. Ontario and New Brunswick had added vitamin D to their bottled milk in 1965, resulting in an immediate decline in rickets, according to McGill’s Health e-News. Dr. Scriver and Mr. Steinberg’s efforts led to a dramatic decrease in the bone disease in their province, as well.

His partnership with Mr. Steinberg also led to the creation of The National Food Distribution Centre for the Treatment of Metabolic Diseases, which is dedicated to distributing special diet products to those with genetic metabolic diseases.

His efforts were not al ways welcomed. Paul Scriver recalled his father encountered resistance to his advocacy for amniocentesis as a diagnostic tool to know about the treatment a child may need when it is born. Also contentious was his introduction of screening programs for hereditary diseases that were prevalent among specific communities, such as for Tay-Sachs disease in the Ashkenazi Jewish community. Particularly among Holocaust survivors, some worried about having their blood taken and genetic information collected. Others were concerned that the scientists were interfering with the natural order of things.

“It was very difficult for him and hurtful at times,” Paul said, but added he was also not afraid to talk with those groups about the potential positive and negative aspects of this work.

Beyond his contributions as a clinician-scientist, Dr. Scriver was known as a gifted teacher and lecturer, and the editor of the comprehensive multi-volume text, The Metabolic and Molecular Bases of Inherited Disease.

Dr. Rosenblatt recalled he had a talent for making every lecture interesting.

Stephen Scherer, chief of research at Toronto’s Sick Kids Hospital, said he, too, often read and cited Dr. Scriver’s work.

“The breadth of his knowledge was astounding, he was clearly a polymath (I think Charles may prefer ‘Universal’ or ‘Renaissance’ Man),” Dr. Scherer wrote in an e-mail. “He took very seriously every opportunity to convey his thoughtful influence, tuning every word and honing every phrase.”

Dr. Scriver also played a role in initiating The Human Genome Project, which generated the first sequence of human genome and was completed in 2003. In 1986, while at the Howard Hughes Medical Institute in the U.S., he brought together key researchers and funders for a meeting to pursue the project, according to his colleague John Bergeron, emeritus professor of medicine at McGill.

“This was his idea to get things going,” Dr. Bergeron said, noting that today, there are many others who take credit for the project. “But the record shows that this was the start and that’s due to him, due to his prescience about exactly how … we could get hold of the best technology to address human disease.”

Among his many accolades, Dr. Scriver received honourary doctorate degrees from multiple universities in Canada and abroad, including his alma mater McGill, as well as the title of Companion of the Order of Canada. In 1979, he received the Canada Gairdner International Award.

In the final years of his life, Dr. Scriver lived with Parkinson’s Disease. He developed aphasia, losing the ability to speak, and later dementia. But his children said he faced declining health without bitterness.

“He just basically accepted that and said, ‘I’m going to enjoy what I’ve got,’ and he did,” Paul said. “He never stopped loving being alive and being grateful.”

He leaves Zipper, his children Do-Ellen, Peter, Julie and Paul, and seven grandchildren.