Tack­ling rare and or­phan diseases

Financial Mirror (Cyprus) - - FRONT PAGE -

Rare diseases are com­monly ne­glected, sim­ply be­cause they are, well, rare. In the ag­gre­gate, how­ever, they af­fect huge num­bers of peo­ple. In the United States, rare diseases are de­fined as those that af­fect fewer than 200,000 peo­ple. But there are more than 6,800 of th­ese con­di­tions, and world­wide they af­flict hun­dreds of mil­lions of peo­ple. And yet only about 250 treat­ments are avail­able for th­ese diseases.

One reason for this is that small num­bers of pa­tients make study­ing ill­nesses and test­ing drugs dif­fi­cult. As a re­sult, med­i­cal pro­fes­sion­als of­ten know lit­tle about the symp­toms and bi­ol­ogy of th­ese diseases.

Ear­lier this year, I par­tic­i­pated in a Rare Dis­ease Day pro­gramme in Cal­i­for­nia. The topic was an ob­scure but large col­lec­tion (more than 70) of diseases caused by a spe­cific type of ge­netic er­ror – one that takes place in the ma­chin­ery of cells that chem­i­cally at­taches sug­ars to pro­teins and lipids.


is known about what causes

the mu­ta­tions that give rise to th­ese con­gen­i­tal dis­or­ders, and treat­ments ex­ist for only a few. Th­ese de­fects can lead to a wide spec­trum of prob­lems, be­cause ac­cu­rate gly­co­sy­la­tion, as the process is called, is es­sen­tial for the func­tion­ing of many sig­nal­ing mol­e­cules, such as hor­mones and neu­ro­trans­mit­ters, as well as the re­cep­tors to which th­ese mol­e­cules bind.

Along with health pro­fes­sion­als, the au­di­ence at the con­fer­ence in­cluded chil­dren af­flicted with th­ese diseases, along with their fam­i­lies.

For an en­tire af­ter­noon, the health pro­fes­sion­als met in small groups with the fam­i­lies and chil­dren. As the dis­cus­sion went on, one child would oc­ca­sion­ally let out a blood-cur­dling scream. An­other would pe­ri­od­i­cally make quacking noises. Still others sat in var­i­ous stages of de­te­ri­o­ra­tion.

At one point, I was sit­ting about a foot away from an adorable lit­tle girl – I think she was about two years old – and ev­ery cou­ple of min­utes she would have a seizure. Her eyes would roll back, and her head would drop to her chest. The med­i­ca­tions she is tak­ing are able to pre­vent only the most vi­o­lent and gen­er­alised of her seizures. Then she would re­cover and re­sume press­ing the screen of her lit­tle child’s lap­top. Her an­guished fa­ther spent the en­tire ses­sion stroking her arm.

Watch­ing the par­ents was dif­fi­cult. Some were hy­per-alert, ask­ing lots of ques­tions; they seemed to have de­voured ev­ery sci­en­tific paper, blog, and news­pa­per ar­ti­cle in ex­is­tence. Others just seemed con­fused. The worst were those with blank stares of deep de­spair.

For most of the par­ents, the ran­dom bad luck of their child’s ge­netic de­fect had stolen their lives, turn­ing their days into a se­ries of end­less vis­its to med­i­cal spe­cial­ists. Most of the kids need large num­bers of medicines. Many must be fed via gas­tric feed­ing tubes in­serted sur­gi­cally through an in­ci­sion in their ab­domens. One wo­man was there with her 32-year-old son.

There is much that gov­ern­ments can do to help those dealing with rare diseases. First, they can re­di­rect re­search fund­ing from less crit­i­cal pursuits to projects in molec­u­lar ge­net­ics that can of­fer in­sights into meta­bolic dis­or­ders.

Sec­ond, they can re­duce the bur­den of reg­u­la­tory red tape on the very small clin­i­cal tri­als of new treat­ments for rare diseases. Fi­nally, pol­i­cy­mak­ers can cre­ate fi­nan­cial in­cen­tives – which could in­clude tax breaks on re­search and de­vel­op­ment – to en­cour­age drug com­pa­nies to de­velop ther­a­pies that oth­er­wise would not pro­vide an at­trac­tive re­turn on in­vest­ment.

In the world of medicine, prac­ti­tion­ers of a few dif­fi­cult, drain­ing spe­cial­ties are – in my book – well on the path to saint­hood. I would in­clude among them pe­di­atric on­col­o­gists, the staff of burn units, the vol­un­teers who treat pa­tients with lethal in­fec­tious diseases such as Ebola, and the pro­fes­sion­als who di­ag­nose and treat de­bil­i­tat­ing ge­netic diseases and work with the af­flicted fam­i­lies. Th­ese un­sung heroes need all the sup­port we can pro­vide.

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